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223 results on '"Cooper-Knock, Johnathan"'

1. Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study

Author: Julian, Thomas H., Girach, Zain, Sanderson, Eleanor, Guo, Hui, Yu, Jonathan, Cooper-Knock, Johnathan, Black, Graeme C., and Sergouniotis, Panagiotis I.
Published: 2023
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2. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author: van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia
Subjects: Human Genome, Neurodegenerative, Clinical Research, Rare Diseases, Prevention, ALS, Neurosciences, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Brain, Cholesterol, Disease Progression, Female, Genome-Wide Association Study, Glutamine, Humans, Male, Mendelian Randomization Analysis, Microsatellite Repeats, Mutation, Neurodegenerative Diseases, Neurons, Quantitative Trait Loci, RNA-Seq, Risk Factors, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
Published: 2021

3. Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis

Author: Harvey, Calum, Weinreich, Marcel, Lee, James A.K., Shaw, Allan C., Ferraiuolo, Laura, Mortiboys, Heather, Zhang, Sai, Hop, Paul J., Zwamborn, Ramona A.J., van Eijk, Kristel, Julian, Thomas H., Moll, Tobias, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Quinn, John P., Pfaff, Abigail L., Kõks, Sulev, Poulton, Joanna, Battle, Stephanie L., Arking, Dan E., Snyder, Michael P., Veldink, Jan H., Kenna, Kevin P., Shaw, Pamela J., and Cooper-Knock, Johnathan
Published: 2024
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4. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Author: Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J. F. A., Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A. J., van der Spek, Rick A. A., Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R., Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R., Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E., Dobson, Richard, van Es, Michael A., McLaughlin, Russell L., Vourc’h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P., Mora, Jesus S., Shaw, Pamela J., Landers, John E., Glass, Jonathan D., Shaw, Christopher E., Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., and Al-Chalabi, Ammar
Published: 2022
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5. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

Author: Neurologen, Projectafdeling ALS, Brain, Neurogenetica, Genetic Risks, Marriott, Heather, Spargo, Thomas P, Al Khleifat, Ahmad, Andersen, Peter M, Başak, Nazli A, Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E, McLaughlin, Russell, Pardina, Jesús S Mora, Morrison, Karen E, Pinto, Susana, Shaw, Christopher E, Shaw, Pamela J, Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H, Vourc'h, Patrick, Weber, Markus, Veldink, Jan H, Dobson, Richard J, Schwab, Patrick, Al-Chalabi, Ammar, Iacoangeli, Alfredo, Project MinE ALS Sequencing Consortium, Neurologen, Projectafdeling ALS, Brain, Neurogenetica, Genetic Risks, Marriott, Heather, Spargo, Thomas P, Al Khleifat, Ahmad, Andersen, Peter M, Başak, Nazli A, Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E, McLaughlin, Russell, Pardina, Jesús S Mora, Morrison, Karen E, Pinto, Susana, Shaw, Christopher E, Shaw, Pamela J, Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H, Vourc'h, Patrick, Weber, Markus, Veldink, Jan H, Dobson, Richard J, Schwab, Patrick, Al-Chalabi, Ammar, Iacoangeli, Alfredo, and Project MinE ALS Sequencing Consortium
Published: 2024

6. Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis

Author: Neurogenetica, Brain, Genetic Risks, Neurologen, Translational Neuroscience, Harvey, Calum, Weinreich, Marcel, Lee, James A.K., Shaw, Allan C., Ferraiuolo, Laura, Mortiboys, Heather, Zhang, Sai, Hop, Paul J., Zwamborn, Ramona A.J., van Eijk, Kristel, Julian, Thomas H., Moll, Tobias, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Quinn, John P., Pfaff, Abigail L., Kõks, Sulev, Poulton, Joanna, Battle, Stephanie L., Arking, Dan E., Snyder, Michael P., Veldink, Jan H., Kenna, Kevin P., Shaw, Pamela J., Cooper-Knock, Johnathan, Project MinE ALS Sequencing Consortium, Neurogenetica, Brain, Genetic Risks, Neurologen, Translational Neuroscience, Harvey, Calum, Weinreich, Marcel, Lee, James A.K., Shaw, Allan C., Ferraiuolo, Laura, Mortiboys, Heather, Zhang, Sai, Hop, Paul J., Zwamborn, Ramona A.J., van Eijk, Kristel, Julian, Thomas H., Moll, Tobias, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Quinn, John P., Pfaff, Abigail L., Kõks, Sulev, Poulton, Joanna, Battle, Stephanie L., Arking, Dan E., Snyder, Michael P., Veldink, Jan H., Kenna, Kevin P., Shaw, Pamela J., Cooper-Knock, Johnathan, and Project MinE ALS Sequencing Consortium
Published: 2024

7. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

Author: Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M., Başak, Nazli A., Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al-Chalabi, Ammar, Iacoangeli, Alfredo, Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M., Başak, Nazli A., Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús S. Mora, Morrison, Karen E., Pinto, Susana, Shaw, Christopher E., Shaw, Pamela J., Silani, Vincenzo, Ticozzi, Nicola, van Damme, Philip, van den Berg, Leonard H., Vourc'h, Patrick, Weber, Markus, Veldink, Jan H., Dobson, Richard J., Schwab, Patrick, Al-Chalabi, Ammar, and Iacoangeli, Alfredo
Abstract: Objective: Neurofilament heavy-chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to determine if NEFH variants modify ALS risk. Methods: Genetic data of 11,130 people with ALS and 7,416 controls from the literature and Project MinE were analysed. We performed meta-analyses of published case–control studies reporting NEFH variants, and variant analysis of NEFH in Project MinE whole-genome sequencing data. Results: Fixed-effects meta-analysis found that rare (MAF <1%) missense variants in the tail domain of NEFH increase ALS risk (OR 4.55, 95% CI 2.13–9.71, p < 0.0001). In Project MinE, ultrarare NEFH variants increased ALS risk (OR 1.37 95% CI 1.14–1.63, p = 0.0007), with rod domain variants (mostly intronic) appearing to drive the association (OR 1.45 95% CI 1.18–1.77, pMadsen–Browning = 0.0007, pSKAT-O = 0.003). While in the tail domain, ultrarare (MAF <0.1%) pathogenic missense variants were also associated with higher risk of ALS (OR 1.94, 95% CI 0.86–4.37, pMadsen–Browning = 0.039), supporting the meta-analysis results. Finally, several tail in-frame deletions were also found to affect disease risk, however, both protective and pathogenic deletions were found in this domain, highlighting an intricated architecture that requires further investigation. Interpretation: We showed that NEFH tail missense and in-frame deletion variants, and intronic rod variants are risk factors for ALS. However, they are not variants of large effect, and their functional impact needs to be clarified in further studies. Therefore, their inclusion in routine genetic screening panels should be reconsidered.
Published: 2024
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8. Characterisation of genotype-phenotype relationships in ALS associated with hexanucleotide repeat expansion of C9orf72

Author: Cooper-Knock, Johnathan, Shaw, Pamela J., Kirby, Janine, and Rattray, Magnus
Subjects: 610
Abstract: The papers selected represent characterisation of amyotrophic lateral sclerosis (ALS) patients belonging to the C9orf72 genetic variant. The general introduction describes ALS more broadly, both clinically and pathologically, including a summary of proposed molecular mechanisms of pathogenesis. It goes on to discuss the discovery that GGGGCC-repeat expansions of C9orf72 represent the most common genetic variant of this disease. The first group of papers in section 3 relate to clinical and pathological characterisation of the C9orf72 genetic variant. This includes genetic screening of cohorts of patients suffering from ALS, frontotemporal dementia (FTD), multiple sclerosis and parkinsonism. The second group of papers in section 4 describes the use of transcriptome analysis, biochemical techniques and immunohistochemistry to study pathogenic mechanisms in C9orf72-ALS. Characterisation of the interactions and behaviour of RNA foci derived from the C9orf72 repeat expansion suggest that these foci sequester proteins important to mRNA splicing. Novel methodology was then used to describe an increase in the splicing error rate in lymphoblastoid cell lines derived from C9orf72-ALS patients, which correlates with disease severity. The final group of papers in section 5 describes the study of genetic modifiers of the C9orf72-disease phenotype. This includes the development and use of a Southern blotting protocol to size the expansion. This led to some interesting suggestions: that patients with intermediate length, but reputedly pathogenic, expansions do not exhibit haploinsufficiency or typical C9orf72-neuropathology. Finally contribution was made to a larger study of the interaction between TMEM106B genotype and C9orf72-disease.
Published: 2015

9. The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)

Author: Boddy, Sarah L., Giovannelli, Ilaria, Sassani, Matilde, Cooper-Knock, Johnathan, Snyder, Michael P., Segal, Eran, Elinav, Eran, Barker, Lynne A., Shaw, Pamela J., and McDermott, Christopher J.
Published: 2021
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10. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Author: Gallagher, Michael D, Suh, Eunran, Grossman, Murray, Elman, Lauren, McCluskey, Leo, Van Swieten, John C, Al-Sarraj, Safa, Neumann, Manuela, Gelpi, Ellen, Ghetti, Bernardino, Rohrer, Jonathan D, Halliday, Glenda, Van Broeckhoven, Christine, Seilhean, Danielle, Shaw, Pamela J, Frosch, Matthew P, Alafuzoff, Irina, Antonell, Anna, Bogdanovic, Nenad, Brooks, William, Cairns, Nigel J, Cooper-Knock, Johnathan, Cotman, Carl, Cras, Patrick, Cruts, Marc, De Deyn, Peter P, DeCarli, Charles, Dobson-Stone, Carol, Engelborghs, Sebastiaan, Fox, Nick, Galasko, Douglas, Gearing, Marla, Gijselinck, Ilse, Grafman, Jordan, Hartikainen, Päivi, Hatanpaa, Kimmo J, Highley, J Robin, Hodges, John, Hulette, Christine, Ince, Paul G, Jin, Lee-Way, Kirby, Janine, Kofler, Julia, Kril, Jillian, Kwok, John BJ, Levey, Allan, Lieberman, Andrew, Llado, Albert, Martin, Jean-Jacques, Masliah, Eliezer, McDermott, Christopher J, McKee, Ann, McLean, Catriona, Mead, Simon, Miller, Carol A, Miller, Josh, Munoz, David G, Murrell, Jill, Paulson, Henry, Piguet, Olivier, Rossor, Martin, Sanchez-Valle, Raquel, Sano, Mary, Schneider, Julie, Silbert, Lisa C, Spina, Salvatore, van der Zee, Julie, Van Langenhove, Tim, Warren, Jason, Wharton, Stephen B, White, Charles L, Woltjer, Randall L, Trojanowski, John Q, Lee, Virginia MY, Van Deerlin, Vivianna, and Chen-Plotkin, Alice S
Subjects: Humans, Amyotrophic Lateral Sclerosis, Genetic Predisposition to Disease, Intercellular Signaling Peptides and Proteins, Proteins, Membrane Proteins, Nerve Tissue Proteins, Cohort Studies, Age Factors, Age of Onset, DNA Repeat Expansion, Genotype, Heterozygote, Polymorphism, Single Nucleotide, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Frontotemporal Lobar Degeneration, C9orf72 Protein, Progranulins, Rare Diseases, Aging, Neurosciences, Alzheimer's Disease Related Dementias (ADRD), Brain Disorders, Neurodegenerative, Prevention, Genetics, Dementia, Frontotemporal Dementia (FTD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Aetiology, 2.1 Biological and endogenous factors, Neurological, TMEM106B, C9orf72, Frontotemporal dementia, Frontotemporal lobar degeneration, Amyotrophic lateral sclerosis, Genetic modifier, Clinical Sciences, Neurology & Neurosurgery
Abstract: Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common genetic cause of both neurodegenerative diseases. Genetic variants at TMEM106B influence risk for the most common neuropathological subtype of FTLD, characterized by inclusions of TAR DNA-binding protein of 43 kDa (FTLD-TDP). Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (GRN) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. Here, we report that rs1990622 genotype affects age at death in a single-site discovery cohort of FTLD patients with C9orf72 expansions (n = 14), with the major allele correlated with later age at death (p = 0.024). We replicate this modifier effect in a 30-site international neuropathological cohort of FTLD-TDP patients with C9orf72 expansions (n = 75), again finding that the major allele associates with later age at death (p = 0.016), as well as later age at onset (p = 0.019). In contrast, TMEM106B genotype does not affect age at onset or death in 241 FTLD-TDP cases negative for GRN mutations or C9orf72 expansions. Thus, TMEM106B is a genetic modifier of FTLD with C9orf72 expansions. Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.
Published: 2014

11. Mendelian Randomization Study With Clinical Follow-Up Links Metabolites to Risk and Severity of Pulmonary Arterial Hypertension.

Author: Alhathli, Elham, Julian, Thomas, Girach, Zain Ul Abideen, Thompson, A. A. Roger, Rhodes, Christopher, Gräf, Stefan, Errington, Niamh, Wilkins, Martin R., Lawrie, Allan, Wang, Dennis, and Cooper-Knock, Johnathan
Published: 2024
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12. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, Georgios, Appel, Stanley H., Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard, Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Allen, Andrew S., Appel, Stanley, Bedlack, Richard S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, D’Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Mazzini, Letizia, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Al Kheifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A. Nazli, Blair, Ian P., Chio, Adriano, Cooper-Knock, Jonathan, de Carvalho, Mamede, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hardiman, Orla, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Kooyman, Maarten, Landers, John, McLaughlin, Russell, Middelkoop, Bas, Mill, Jonathan, Neto, Miguel Mitne, Moisse, Mattieu, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shatunov, Aleksey, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van der Spek, Rick, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, van Vugt, Joke, Veldink, Jan, Weber, Markus, Williams, Kelly L., Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Messina, Sonia, Simone, Isabella L., Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Wyman, Stacia K., LeNail, Alex, Van Eyk, Jennifer E., Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L.M.A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Van Eijk, Kristel R., Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Fifita, Jennifer A., Nicholson, Garth A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Rogaeva, Ekaterina, Zinman, Lorne, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Van Damme, Philip, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
Published: 2018
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13. Long non-coding RNA Neat1 regulates adaptive behavioural response to stress in mice

Author: Kukharsky, Michail S., Ninkina, Natalia N., An, Haiyan, Telezhkin, Vsevolod, Wei, Wenbin, Meritens, Camille Rabesahala de, Cooper-Knock, Johnathan, Nakagawa, Shinichi, Hirose, Tetsuro, Buchman, Vladimir L., and Shelkovnikova, Tatyana A.
Published: 2020
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14. Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing

Author: Crooks, Lucy, Cooper-Knock, Johnathan, Heath, Paul R., Bouhouche, Ahmed, Elfahime, Mostafa, Azzouz, Mimoun, Bakri, Youssef, Adnaoui, Mohammed, Ibrahimi, Azeddine, Amzazi, Saaïd, and Tazi-Ahnini, Rachid
Published: 2020
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15. A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations

Author: Allen, Scott P., primary, Al Sultan, Afnan, additional, Kabucho Kibirige, Elaine, additional, Tonkiss, Erin, additional, Hamer, Keaton J., additional, Castelli, Lydia M., additional, Lin, Ya-Hui, additional, Roscoe, Sarah, additional, Stefanidis, Nikolaos, additional, Mead, Richard J., additional, Highley, J. Robin, additional, Cooper-Knock, Johnathan, additional, Hautbergue, Guillaume M., additional, Heath, Paul R., additional, Kirby, Janine, additional, and Shaw, Pamela J., additional
Published: 2023
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16. Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence

Author: Chapman, Laura, primary, Cooper-Knock, Johnathan, additional, and Shaw, Pamela J, additional
Published: 2023
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17. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Author: Adey, Brett N., primary, Cooper-Knock, Johnathan, additional, Al Khleifat, Ahmad, additional, Fogh, Isabella, additional, van Damme, Philip, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Hardiman, Orla, additional, McLaughlin, Russell, additional, Gotkine, Marc, additional, Drory, Vivian, additional, Silani, Vincenzo, additional, Ticozzi, Nicola, additional, Veldink, Jan H., additional, van den Berg, Leonard H., additional, de Carvalho, Mamede, additional, Pinto, Susana, additional, Mora Pardina, Jesus S., additional, Povedano Panades, Mónica, additional, Andersen, Peter M., additional, Weber, Markus, additional, Başak, Nazli A., additional, Shaw, Christopher E., additional, Shaw, Pamela J., additional, Morrison, Karen E., additional, Landers, John E., additional, Glass, Jonathan D., additional, Vourc’h, Patrick, additional, Dobson, Richard J. B., additional, Breen, Gerome, additional, Al-Chalabi, Ammar, additional, Jones, Ashley R., additional, and Iacoangeli, Alfredo, additional
Published: 2023
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18. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Author: Adey, Brett N., Cooper-Knock, Johnathan, Al Khleifat, Ahmad, Fogh, Isabella, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, Silani, Vincenzo, Ticozzi, Nicola, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Pinto, Susana, Mora Pardina, Jesus S., Povedano Panades, Mónica, Andersen, Peter M., Weber, Markus, Başak, Nazli A., Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Vourc’h, Patrick, Dobson, Richard J. B., Breen, Gerome, Al-Chalabi, Ammar, Jones, Ashley R., Iacoangeli, Alfredo, Adey, Brett N., Cooper-Knock, Johnathan, Al Khleifat, Ahmad, Fogh, Isabella, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, Silani, Vincenzo, Ticozzi, Nicola, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Pinto, Susana, Mora Pardina, Jesus S., Povedano Panades, Mónica, Andersen, Peter M., Weber, Markus, Başak, Nazli A., Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Vourc’h, Patrick, Dobson, Richard J. B., Breen, Gerome, Al-Chalabi, Ammar, Jones, Ashley R., and Iacoangeli, Alfredo
Abstract: Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-associated variants have been identified within CAV1/2 enhancers, which reduce gene expression and lead to disruption of membrane lipid rafts. Methods: Using large ALS whole-genome sequencing and post-mortem RNA sequencing datasets (5,987 and 365 tissue samples, respectively), and iPSC-derived motor neurons from 55 individuals, we investigated the role of CAV1/2 expression and enhancer variants in the ALS phenotype. Results: We report a differential expression analysis between ALS cases and controls for CAV1 and CAV2 genes across various post-mortem brain tissues and three independent datasets. CAV1 and CAV2 expression was consistently higher in ALS patients compared to controls, with significant results across the primary motor cortex, lateral motor cortex, and cerebellum. We also identify increased survival among carriers of CAV1/2 enhancer mutations compared to non-carriers within Project MinE and slower progression as measured by the ALSFRS. Carriers showed a median increase in survival of 345 days. Discussion: These results add to an increasing body of evidence linking CAV1 and CAV2 genes to ALS. We propose that carriers of CAV1/2 enhancer mutations may be conceptualised as an ALS subtype who present a less severe ALS phenotype with a longer survival duration and slower progression. Upregulation of CAV1/2 genes in ALS cases may indicate a causal pathway or a compensatory mechanism. Given prior research supporting the beneficial role of CAV1/2 expression in ALS patients, we consider a compensatory mechanism to better fit the available evidence, although further investigation into the biological pathways associated with CAV1/2 is needed to support this conclusion.
Published: 2023
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19. Clinical testing panels for ALS : global distribution, consistency, and challenges

Author: Dilliott, Allison A., Al Nasser, Ahmad, Elnagheeb, Marwa, Fifita, Jennifer, Henden, Lyndal, Keseler, Ingrid M., Lenz, Steven, Marriott, Heather, Mccann, Emily, Mesaros, Maysen, Opie-Martin, Sarah, Owens, Emma, Palus, Brooke, Ross, Justyne, Wang, Zhanjun, White, Hannah, Al-Chalabi, Ammar, Andersen, Peter M., Benatar, Michael, Blair, Ian, Cooper-Knock, Johnathan, Harrington, Elizabeth A., Heckmann, Jeannine, Landers, John, Moreno, Cristiane, Nel, Melissa, Rampersaud, Evadnie, Roggenbuck, Jennifer, Rouleau, Guy, Traynor, Bryan, Van Blitterswijk, Marka, Van Rheenen, Wouter, Veldink, Jan, Weishaupt, Jochen, Drury, Luke, Harms, Matthew B., Farhan, Sali M. K., Dilliott, Allison A., Al Nasser, Ahmad, Elnagheeb, Marwa, Fifita, Jennifer, Henden, Lyndal, Keseler, Ingrid M., Lenz, Steven, Marriott, Heather, Mccann, Emily, Mesaros, Maysen, Opie-Martin, Sarah, Owens, Emma, Palus, Brooke, Ross, Justyne, Wang, Zhanjun, White, Hannah, Al-Chalabi, Ammar, Andersen, Peter M., Benatar, Michael, Blair, Ian, Cooper-Knock, Johnathan, Harrington, Elizabeth A., Heckmann, Jeannine, Landers, John, Moreno, Cristiane, Nel, Melissa, Rampersaud, Evadnie, Roggenbuck, Jennifer, Rouleau, Guy, Traynor, Bryan, Van Blitterswijk, Marka, Van Rheenen, Wouter, Veldink, Jan, Weishaupt, Jochen, Drury, Luke, Harms, Matthew B., and Farhan, Sali M. K.
Abstract: Objective: In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with ALS. Through this endeavor, we will provide standardized guidance to laboratories on which genes should be included in clinical genetic testing panels for ALS. In this manuscript, we aimed to assess the heterogeneity in the current global landscape of clinical genetic testing for ALS. Methods: We reviewed the National Institutes of Health (NIH) Genetic Testing Registry (GTR) and members of the ALS GCEP to source frequently used testing panels and compare the genes included on the tests. Results: 14 clinical panels specific to ALS from 14 laboratories covered 4 to 54 genes. All panels report on ANG, SOD1, TARDBP, and VAPB; 50% included or offered the option of including C9orf72 hexanucleotide repeat expansion (HRE) analysis. Of the 91 genes included in at least one of the panels, 40 (44.0%) were included on only a single panel. We could not find a direct link to ALS in the literature for 14 (15.4%) included genes. Conclusions: The variability across the surveyed clinical genetic panels is concerning due to the possibility of reduced diagnostic yields in clinical practice and risk of a missed diagnoses for patients. Our results highlight the necessity for consensus regarding the appropriateness of gene inclusions in clinical genetic ALS tests to improve its application for patients living with ALS and their families.
Published: 2023
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20. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Author: Neurologen, Brain, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Adey, Brett N, Cooper-Knock, Johnathan, Al Khleifat, Ahmad, Fogh, Isabella, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, Silani, Vincenzo, Ticozzi, Nicola, Veldink, Jan H, van den Berg, Leonard H, de Carvalho, Mamede, Pinto, Susana, Mora Pardina, Jesus S, Povedano Panades, Mónica, Andersen, Peter M, Weber, Markus, Başak, Nazli A, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Landers, John E, Glass, Jonathan D, Vourc'h, Patrick, Dobson, Richard J B, Breen, Gerome, Al-Chalabi, Ammar, Jones, Ashley R, Iacoangeli, Alfredo, Neurologen, Brain, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Adey, Brett N, Cooper-Knock, Johnathan, Al Khleifat, Ahmad, Fogh, Isabella, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, Silani, Vincenzo, Ticozzi, Nicola, Veldink, Jan H, van den Berg, Leonard H, de Carvalho, Mamede, Pinto, Susana, Mora Pardina, Jesus S, Povedano Panades, Mónica, Andersen, Peter M, Weber, Markus, Başak, Nazli A, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Landers, John E, Glass, Jonathan D, Vourc'h, Patrick, Dobson, Richard J B, Breen, Gerome, Al-Chalabi, Ammar, Jones, Ashley R, and Iacoangeli, Alfredo
Published: 2023

21. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Author: Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Adey, Brett N.; Cooper-Knock, Johnathan; Al Khleifat, Ahmad; Fogh, Isabella; van Damme, Philip; Corcia, Philippe; Couratier, Philippe; Hardiman, Orla; McLaughlin, Russell; Gotkine, Marc; Drory, Vivian; Silani, Vincenzo; Ticozzi, Nicola; Veldink, Jan H.; van den Berg, Leonard H.; de Carvalho, Mamede; Pinto, Susana; Mora Pardina, Jesus S.; Povedano Panades, Mónica; Andersen, Peter M.; Weber, Markus; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Landers, John E.; Glass, Jonathan D.; Vourc’h, Patrick; Dobson, Richard J. B.; Breen, Gerome; Al-Chalabi, Ammar; Jones, Ashley R.; Iacoangeli, Alfredo, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Adey, Brett N.; Cooper-Knock, Johnathan; Al Khleifat, Ahmad; Fogh, Isabella; van Damme, Philip; Corcia, Philippe; Couratier, Philippe; Hardiman, Orla; McLaughlin, Russell; Gotkine, Marc; Drory, Vivian; Silani, Vincenzo; Ticozzi, Nicola; Veldink, Jan H.; van den Berg, Leonard H.; de Carvalho, Mamede; Pinto, Susana; Mora Pardina, Jesus S.; Povedano Panades, Mónica; Andersen, Peter M.; Weber, Markus; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Landers, John E.; Glass, Jonathan D.; Vourc’h, Patrick; Dobson, Richard J. B.; Breen, Gerome; Al-Chalabi, Ammar; Jones, Ashley R.; Iacoangeli, Alfredo, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
Abstract: Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-associated variants have been identified within CAV1/2 enhancers, which reduce gene expression and lead to disruption of membrane lipid rafts. Methods: using large ALS whole-genome sequencing and post-mortem RNA sequencing datasets (5,987 and 365 tissue samples, respectively), and iPSC-derived motor neurons from 55 individuals, we investigated the role of CAV1/2 expression and enhancer variants in the ALS phenotype. Results: we report a differential expression analysis between ALS cases and controls for CAV1 and CAV2 genes across various post-mortem brain tissues and three independent datasets. CAV1 and CAV2 expression was consistently higher in ALS patients compared to controls, with significant results across the primary motor cortex, lateral motor cortex, and cerebellum. We also identify increased survival among carriers of CAV1/2 enhancer mutations compared to non-carriers within Project MinE and slower progression as measured by the ALSFRS. Carriers showed a median increase in survival of 345 days. Discussion: these results add to an increasing body of evidence linking CAV1 and CAV2 genes to ALS. We propose that carriers of CAV1/2 enhancer mutations may be conceptualised as an ALS subtype who present a less severe ALS phenotype with a longer survival duration and slower progression. Upregulation of CAV1/2 genes in ALS cases may indicate a causal pathway or a compensatory mechanism. Given prior research supporting the beneficial role of CAV1/2 expression in ALS patients, we consider a compensatory mechanism to better fit the available evidence, although further investigation into the biological pathways associated with CAV1/2 is needed to support this conclusion., We would like to acknowledge funding from the following funders: UK Research and Innovation; Medical Research Council; South London and Maudsley NHS Foundation Trust; MND Scotland; Motor Neurone Disease Association; National Institute for Health Research; Spastic Paraplegia Foundation; Rosetrees Trust; Darby Rimmer MND Foundation. Funding for open access charge: UKRI. BA acknowledges funding from an NIHR pre-doctoral fellowship (NIHR301067). AI is funded by the Motor Neurone Disease Association and South London and Maudsley NHS Foundation Trust. JC-K is supported by a Wellcome Trust fellowship (216596/Z/19/Z). AAK is funded by ALS Association Milton Safenowitz Research Fellowship (grant number 22-PDF-609. DOI: 10.52546/pc.gr.150909.), The Motor Neurone Disease Association (MNDA) Fellowship (AAK/Oct21/975-799), The Darby Rimmer Foundation, and The NIHR Maudsley Biomedical Research Centre. This is an EU Joint Programme-Neurodegenerative Disease Research (JPND) project. The project is supported through the following funding organizations under the aegis of JPND: http://www.neurodegenerationresearch.eu/ [United Kingdom, Medical Research Council MR/L501529/1 to AA-C, principal investigator (PI) and MR/R024804/1 to AA-C, PI; Economic and Social Research Council ES/L008238/1 to AA-C (co-PI)] and through the Motor Neurone Disease Association. This study represents independent research partly funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London. The work leading up to this publication was funded by the European Community’s Horizon 2020 Programme (H2020-PHC-2014-two-stage; grant 633413). We acknowledge use of the research computing facility at King’s College London, Rosalind ( https://rosalind.kcl.ac.uk ), which is delivered in partnership with the National Institute for Health Research (NIHR) Biomedical Research Centres at South London and Maudsley and Guy’s and St.
Published: 2023

22. Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration

Author: Julian, Thomas H, primary, Cooper-Knock, Johnathan, additional, MacGregor, Stuart, additional, Guo, Hui, additional, Aslam, Tariq, additional, Sanderson, Eleanor, additional, Black, Graeme CM, additional, and Sergouniotis, Panagiotis I, additional
Published: 2023
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23. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Author: Al Khleifat, Ahmad, primary, Iacoangeli, Alfredo, additional, Jones, Ashley R., additional, van Vugt, Joke J. F. A., additional, Moisse, Matthieu, additional, Shatunov, Aleksey, additional, Zwamborn, Ramona A. J., additional, van der Spek, Rick A. A., additional, Cooper-Knock, Johnathan, additional, Topp, Simon, additional, van Rheenen, Wouter, additional, Kenna, Brendan, additional, Van Eijk, Kristel R., additional, Kenna, Kevin, additional, Byrne, Ross, additional, López, Victoria, additional, Opie-Martin, Sarah, additional, Vural, Atay, additional, Campos, Yolanda, additional, Weber, Markus, additional, Smith, Bradley, additional, Fogh, Isabella, additional, Silani, Vincenzo, additional, Morrison, Karen E., additional, Dobson, Richard, additional, van Es, Michael A., additional, McLaughlin, Russell L., additional, Vourc’h, Patrick, additional, Chio, Adriano, additional, Corcia, Philippe, additional, de Carvalho, Mamede, additional, Gotkine, Marc, additional, Panades, Monica Povedano, additional, Mora, Jesus S., additional, Shaw, Pamela J., additional, Landers, John E., additional, Glass, Jonathan D., additional, Shaw, Christopher E., additional, Basak, Nazli, additional, Hardiman, Orla, additional, Robberecht, Wim, additional, Van Damme, Philip, additional, van den Berg, Leonard H., additional, Veldink, Jan H., additional, and Al-Chalabi, Ammar, additional
Published: 2022
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24. Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication

Author: Moll, Tobias, primary, Odon, Valerie, additional, Harvey, Calum, additional, Collins, Mark O, additional, Peden, Andrew, additional, Franklin, John, additional, Graves, Emily, additional, Marshall, Jack NG, additional, dos Santos Souza, Cleide, additional, Zhang, Sai, additional, Castelli, Lydia, additional, Hautbergue, Guillaume, additional, Azzouz, Mimoun, additional, Gordon, David, additional, Krogan, Nevan, additional, Ferraiuolo, Laura, additional, Snyder, Michael P, additional, Shaw, Pamela J, additional, Rehwinkel, Jan, additional, and Cooper-Knock, Johnathan, additional
Published: 2022
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25. Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity

Author: Zhang, Sai, primary, Cooper-Knock, Johnathan, additional, Weimer, Annika K., additional, Shi, Minyi, additional, Kozhaya, Lina, additional, Unutmaz, Derya, additional, Harvey, Calum, additional, Julian, Thomas H., additional, Furini, Simone, additional, Frullanti, Elisa, additional, Fava, Francesca, additional, Renieri, Alessandra, additional, Gao, Peng, additional, Shen, Xiaotao, additional, Timpanaro, Ilia Sarah, additional, Kenna, Kevin P., additional, Baillie, J. Kenneth, additional, Davis, Mark M., additional, Tsao, Philip S., additional, and Snyder, Michael P., additional
Published: 2022
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26. AtypicalTDP‐43 protein expression in anALSpedigree carrying a p.Y374Xtruncation mutation inTARDBP

Author: Cooper‐Knock, Johnathan, primary, Julian, Thomas H., additional, Feneberg, Emily, additional, Highley, J. Robin, additional, Sidra, Maurice, additional, Turner, Martin R., additional, Talbot, Kevin, additional, Ansorge, Olaf, additional, Allen, Scott P., additional, Moll, Tobias, additional, Shelkovnikova, Tatyana, additional, Castelli, Lydia, additional, Hautbergue, Guillaume M., additional, Hewitt, Christopher, additional, Kirby, Janine, additional, Wharton, Stephen B., additional, Mead, Richard J., additional, and Shaw, Pamela J., additional
Published: 2022
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27. Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

Author: Brain, Neurogenetica, Neurologen, Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K, Shi, Minyi, Moll, Tobias, Marshall, Jack N G, Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide Dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A, Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R, Eitan, Chen, Hornstein, Eran, Kenna, Kevin P, Veldink, Jan H, Ferraiuolo, Laura, Shaw, Pamela J, Snyder, Michael P, Project MinE ALS Sequencing Consortium, Brain, Neurogenetica, Neurologen, Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K, Shi, Minyi, Moll, Tobias, Marshall, Jack N G, Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide Dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A, Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R, Eitan, Chen, Hornstein, Eran, Kenna, Kevin P, Veldink, Jan H, Ferraiuolo, Laura, Shaw, Pamela J, Snyder, Michael P, and Project MinE ALS Sequencing Consortium
Published: 2022

28. Author Correction : Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author: van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D'Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-Garcia, Ricard, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, André G, Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, De Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter Munch, Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Smith, George Davey, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., Universitat Autònoma de Barcelona, van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D'Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-Garcia, Ricard, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, André G, Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, De Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter Munch, Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Smith, George Davey, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., and Universitat Autònoma de Barcelona
Published: 2022

29. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Author: Vural, Atay (ORCID 0000-0003-3222-874X & YÖK ID 182369); Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512); Weber, Markus, Al Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R.; van Vugt, Joke J. F. A.; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Byrne, Ross; Lopez, Victoria; Opie-Martin, Sarah; Campos, Yolanda; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; Dobson, Richard; van Es, Michael A.; McLaughlin, Russell L.; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica Povedano; Mora, Jesus S.; Shaw, Pamela J.; Landers, John E.; Glass, Jonathan D.; Shaw, Christopher E.; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar; the Project MinE Consortium, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Vural, Atay (ORCID 0000-0003-3222-874X & YÖK ID 182369); Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512); Weber, Markus, Al Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R.; van Vugt, Joke J. F. A.; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Byrne, Ross; Lopez, Victoria; Opie-Martin, Sarah; Campos, Yolanda; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; Dobson, Richard; van Es, Michael A.; McLaughlin, Russell L.; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica Povedano; Mora, Jesus S.; Shaw, Pamela J.; Landers, John E.; Glass, Jonathan D.; Shaw, Christopher E.; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar; the Project MinE Consortium, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
Abstract: Background: amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the loss of upper and lower motor neurons, leading to progressive weakness of voluntary muscles, with death following from neuromuscular respiratory failure, typically within 3 to 5 years. There is a strong genetic contribution to ALS risk. In 10% or more, a family history of ALS or frontotemporal dementia is obtained, and the Mendelian genes responsible for ALS in such families have now been identified in about 50% of cases. Only about 14% of apparently sporadic ALS is explained by known genetic variation, suggesting that other forms of genetic variation are important. Telomeres maintain DNA integrity during cellular replication, differ between sexes, and shorten naturally with age. Sex and age are risk factors for ALS and we therefore investigated telomere length in ALS. Methods: samples were from Project MinE, an international ALS whole genome sequencing consortium that includes phenotype data. For validation we used donated brain samples from motor cortex from people with ALS and controls. Ancestry and relatedness were evaluated by principal components analysis and relationship matrices of DNA microarray data. Whole genome sequence data were from Illumina HiSeq platforms and aligned using the Isaac pipeline. TelSeq was used to quantify telomere length using whole genome sequence data. We tested the association of telomere length with ALS and ALS survival using Cox regression. Results: there were 6,580 whole genome sequences, reducing to 6,195 samples (4,315 from people with ALS and 1,880 controls) after quality control, and 159 brain samples (106 ALS, 53 controls). Accounting for age and sex, there was a 20% (95% CI 14%, 25%) increase of telomere length in people with ALS compared to controls (p = 1.1 × 10?12), validated in the brain samples (p = 0.03). Those with shorter telomeres had a 10% increase in median survival (p = 5.0×10?7). Although there was no difference, European Community's Health Seventh Framework Program (FP7/2007-2013); European Union (EU); Horizon 2020; H2020-PHC2014-two-stage; European Research Council (ERC); Research and Innovation Programme; AAK was funded by ALS Association Milton Safenowitz Research Fellowship (grant number 22-PDF-609. doi: 10.52546/pc.gr.150909), The Motor Neurone Disease Association (MNDA) Fellowship (Al Khleifat/Oct21/975799), The Darby Rimmer Foundation, and The NIHRMaudsley Biomedical Research Centre. This project was also funded by the MND Association and the Wellcome Trust. This is an EU Joint Programme-Neurodegenerative Disease Research JPND) project. The project is supported through the following funding organizations under the aegis of JPND-www.jpnd.eu [United Kingdom, Medical Research Council (MR/L501529/1 and MR/R024804/1) and Economic and Social Research Council (ES/L008238/1)]. AA-C was a NIHR Senior Investigator. CS and AA-C received salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit at South London and Maudsley NHS Foundation Trust and King's College London. The collaboration project was co-funded by the PPP Allowance made available by Health ~Holland, Top Sector Life Sciences and Health, to stimulate public-private partnerships. Project MinE Belgium was supported by a grant from IWT, the Belgian ALS Liga and a grant from Opening the Future Fund (KU Leuven). PVD holds a senior clinical investigatorship of FWO-Vlaanderen and was supported by E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders, the ALS Liga Belgie and the KU Leuven funds ""Een Hart voor ALS,"" ""Laeversfonds voor ALS Onderzoek,"" and the ""Valery Perrier Race against ALS Fund"". RM was supported by Science Foundation Ireland (17/CDA/4737). MinE USA was funded by the US ALS Association.
Published: 2022

30. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Author: Neurogenetica, AIOS Psychiatrie, Neurologen, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetic Risks, Neuromuscular Disorders, Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J F A, Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A J, van der Spek, Rick A A, Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R, Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R, Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E, Dobson, Richard, van Es, Michael A, McLaughlin, Russell L, Vourc'h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P, Mora, Jesus S, Shaw, Pamela J, Landers, John E, Glass, Jonathan D, Shaw, Christopher E, Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H, Veldink, Jan H, Al-Chalabi, Ammar, Neurogenetica, AIOS Psychiatrie, Neurologen, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Genetic Risks, Neuromuscular Disorders, Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J F A, Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A J, van der Spek, Rick A A, Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R, Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel R, Kenna, Kevin, Weber, Markus, Smith, Bradley, Fogh, Isabella, Silani, Vincenzo, Morrison, Karen E, Dobson, Richard, van Es, Michael A, McLaughlin, Russell L, Vourc'h, Patrick, Chio, Adriano, Corcia, Philippe, de Carvalho, Mamede, Gotkine, Marc, Panades, Monica P, Mora, Jesus S, Shaw, Pamela J, Landers, John E, Glass, Jonathan D, Shaw, Christopher E, Basak, Nazli, Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H, Veldink, Jan H, and Al-Chalabi, Ammar
Published: 2022

31. C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

Author: Stopford, Matthew J., Higginbottom, Adrian, Hautbergue, Guillaume M., Cooper-Knock, Johnathan, Mulcahy, Padraig J., De Vos, Kurt J., Renton, Alan E., Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Traynor, Bryan J., Azzouz, Mimoun, Heath, Paul R., Kirby, Janine, and Shaw, Pamela J.
Published: 2017
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32. The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

Author: Cooper-Knock, Johnathan, Kirby, Janine, Highley, Robin, and Shaw, Pamela J.
Published: 2015
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33. Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis

Author: Boddy, Sarah, primary, Islam, Mahjabin, additional, Moll, Tobias, additional, Kurz, Julian, additional, Burrows, David, additional, McGown, Alexander, additional, Bhargava, Anushka, additional, Julian, Thomas H, additional, Harvey, Calum, additional, Marshall, Jack NG, additional, Hall, Benjamin PC, additional, Allen, Scott P, additional, Kenna, Kevin P, additional, Sanderson, Eleanor, additional, Zhang, Sai, additional, Ramesh, Tennore, additional, Snyder, Michael P, additional, Shaw, Pamela J, additional, McDermott, Christopher, additional, and Cooper-Knock, Johnathan, additional
Published: 2022
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34. Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

Author: Zhang, Sai, primary, Cooper-Knock, Johnathan, additional, Weimer, Annika K., additional, Shi, Minyi, additional, Moll, Tobias, additional, Marshall, Jack N.G., additional, Harvey, Calum, additional, Nezhad, Helia Ghahremani, additional, Franklin, John, additional, Souza, Cleide dos Santos, additional, Ning, Ke, additional, Wang, Cheng, additional, Li, Jingjing, additional, Dilliott, Allison A., additional, Farhan, Sali, additional, Elhaik, Eran, additional, Pasniceanu, Iris, additional, Livesey, Matthew R., additional, Eitan, Chen, additional, Hornstein, Eran, additional, Kenna, Kevin P., additional, Veldink, Jan H., additional, Ferraiuolo, Laura, additional, Shaw, Pamela J., additional, Snyder, Michael P., additional, Blair, Ian, additional, Wray, Naomi R., additional, Kiernan, Matthew, additional, Mitne Neto, Miguel, additional, Chio, Adriano, additional, Cauchi, Ruben, additional, Robberecht, Wim, additional, van Damme, Philip, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Hardiman, Orla, additional, McLaughin, Russell, additional, Gotkine, Marc, additional, Drory, Vivian, additional, Ticozzi, Nicola, additional, Silani, Vincenzo, additional, van den Berg, Leonard H., additional, de Carvalho, Mamede, additional, Mora Pardina, Jesus S., additional, Povedano, Monica, additional, Andersen, Peter, additional, Weber, Markus, additional, Başak, Nazli A., additional, Al-Chalabi, Ammar, additional, Shaw, Chris, additional, Morrison, Karen E., additional, Landers, John E., additional, and Glass, Jonathan D., additional
Published: 2022
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35. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author: Rheenen, Wouter van, Spek, Rick A. A. van der, Bakker, Mark K., Vugt, Joke J. F. A. van, Hop, Paul J., Zwamborn, Ramona A. J., Klein, Niek de, Westra, Harm Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Needham, Merrilee, Ceroni, Mauro, Simoncini, Costanza, Gagliardi, Stella, Corrado, Lucia, Garton, Fleur C., Mazzini, Letizia, Westeneng, Henk Jan, Ross, Jay P., Valluzzi, Francesco, Aguggia, Marco, Raggi, Flavia, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Ngo, Shyuan T., Corcia, Philippe, Olsen, Catherine M., Hofman, Albert, Van Eijk, Kristel R., Pasterkamp, R. Jeroen, Tittmann, Lukas, Iacoangeli, Alfredo, Mitne Neto, Miguel, Sproviero, Daisy, Cauchi, Ruben J., Ophoff, Roel A., Wiedau Pazos, Martina, Lomen-Hoerth, Catherine, Deerlin, Vivianna M. van, Nicholson, Garth A., Brylev, Lev, Whiteman, David C., Grosskreutz, Julian, Fan, Dongsheng, Couratier, Philippe, Roediger, Annekathrin, Gaur, Nayana, D’alfonso, Sandra, Uitterlinden, André G., Pamphlett, Roger, Fominykh, Vera, Byrne, Ross P., Lieb, Wolfgang, Iazzolino, Barbara, Dekker, Annelot M., Slap Consortium, Demeshonok, Vera, Millecamps, Stéphanie, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Franke, Andre, Mcrae, Allan F., Rowe, Dominic B., Peotta, Laura, Cooper-Knock, Johnathan, Glavač, Damjan, Doherty, Mark, Rietschel, Marcella, Stević, Zorica, Drory, Vivian, Meininger, Vincent, Zarrelli, Michele, Povedano, Monica, Gaunt, Tom R., Steyn, Frederik J., Williams, Kelly L., Smith, Bradley N., Cugnasco, Paolo, Papurello, Diego Maria, Nozzoli, Cecilia, Sorarù, Gianni, Mather, Karen A., Ripke, Stephan, Nöthen, Markus M., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, Carvalho, Mamede de, Gromicho, Marta, Pinto, Susana, Marco, Giovanni de, Al Khleifat, Ahmad, Eberle, Michael A., Braun, Alice, Gusmaroli, Graziano, Siciliano, Gabriele, Petri, Susanne, Breen, Gerome, Weber, Markus, Rouleau, Guy A., Rojas García, Ricardo, Silani, Vincenzo, Amouyel, Philippe, Ghiglione, Paolo, Davey Smith, George, Curtis, Charles J., Shatunov, Aleksey, Mill, Jonathan, Mclaughlin, Russell L., Filosto, Massimiliano, Comi, Cristoforo, Gerfo, Annalisa lo, Ferlini, Alessandra, Riva, Nilo, Mora Pardina, Jesus S., Chiveri, Luca, Hardiman, Orla, Torrieri, Maria Claudia, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Padovani, Alessandro, Chandran, Siddharthan, Al Chalabi, Ammar, Assialioui, Abdelilah, Labate, Carmelo, Damme, Philip van, Ticozzi, Nicola, Palumbo, Francesca, Inghilleri, Maurizio, Chiò, Adriano, Pal, Suvankar, Lunetta, Christian, Jörk, Alexander, Cichon, Sven, Kraft, Julia, Morrison, Karen E., Ruiz, Luigi, Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Dion, Patrick A., Calvo, Andrea, Kooyman, Maarten, Başak, Nazli, Gerardi, Francesca, Simone, Isabella L., Kooi, Anneke J. van der, Ratti, Antonia, Ferrandi, Delfina, Fogh, Isabella, Ludolph, Albert C., Moglia, Cristina, Brunetti, Maura, Diamanti, Luca, Barthel, Tabea, Blair, Ian P., Es, Michael A. van, Gallone, Salvatore, Canosa, Antonio, Guerra, Vito, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Ferrarese, Carlo, Nefussy, Beatrice, Theele, Erik, Rinaldi, Fabrizio, Weishaupt, Jochen H., Kiernan, Matthew C., Barberis, Marco, Osmanovic, Alma, Baloh, Robert H., Nordin, Angelica, Lerner, Yossef, Vito, Nicoletta di, Zabari, Michal, Zoccolella, Stefano, Heverin, Mark, Gotkine, Marc, Guaita, Maria Cristina, Brenner, David, Freischmidt, Axel, Sbaiz, Luca, Benyamin, Beben, Glass, Jonathan D., Landers, John E., Tazelaar, Gijs H. P., Rota, Eugenia, Bensimon, Gilbert, Ilse, Benjamin, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Gentile, Salvatore, Moisse, Matthieu, Topp, Simon, Henderson, Robert D., Rademakers, Rosa, Perrone, Patrizia, Stubendorff, Beatrice, Brown, Robert H., Restuadi, Restuadi, Tremolizzo, Lucio, Mundi, Ciro, Berg, Leonard H. van den, Passarella, Bruno, Delodovici, Maria Luisa, Furlong, Sarah, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Meineri, Piero, Mauro, Alessandro, Hannon, Eilis, Casale, Federico, Leone, Maurizio, Shaw, Christopher E., Fuda, Giuseppe, Salamone, Paolina, Mathers, Susan, Baird, Denis, Launaro, Nicola, Marchi, Fabiola de, Veldink, Jan H., Gellera, Cinzia, Salachas, François, Witte, Otto W., Andersen, Peter M., Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Slalom Consortium, Tamma, Filippo, Dotta, Michele, Lauria, Giuseppe, Steinbach, Robert, Imperiale, Daniele, Geda, Claudio, Dolzhenko, Egor, Cavallo, Roberto, Pignatta, Pietro, Groen, Ewout J. N., Cotelli, Maria Sofia, Mattei, Marco de, Calabrese, Gianluigi, Sapio, Alessia di, Giardini, Guido, Hübner, Christian A., Corti, Stefania, Bell, Shaughn, Comi, Giancarlo, Mccombe, Pamela A., Tiloca, Cinzia, Parals Consortium, Gawor, Klara, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Graff, Caroline, Comi, Giacomo P., Cereda, Cristina, Bo, Roberto del, Boero, Giovanni, Slagen Consortium, Vourc’h, Patrick, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Benyamin, Beben, Veldink, Jan H, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W, van der Spek, R, Bakker, M, van Vugt, J, Hop, P, Zwamborn, R, de Klein, N, Westra, H, Bakker, O, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, A, Gawor, K, Westeneng, H, Tazelaar, G, van Eijk, K, Kooyman, M, Byrne, R, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, B, Gromicho, M, Chandran, S, Pal, S, Morrison, K, Shaw, P, Hardy, J, Orrell, R, Sendtner, M, Meyer, T, Basak, N, van der Kooi, A, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, D'Alfonso, S, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, R, Bell, S, Vourc'H, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Mora Pardina, J, Assialioui, A, Rojas-Garcia, R, Dion, P, Ross, J, Ludolph, A, Weishaupt, J, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, C, Saker-Delye, S, Wood, N, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, D, Olsen, C, Uitterlinden, A, Hofman, A, Rietschel, M, Cichon, S, Nothen, M, Amouyel, P, Traynor, B, Singleton, A, Mitne Neto, M, Cauchi, R, Ophoff, R, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, V, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, O, Steinbach, R, Hubner, C, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, I, Kiernan, M, Benyamin, B, Henderson, R, Furlong, S, Mathers, S, Mccombe, P, Needham, M, Ngo, S, Nicholson, G, Pamphlett, R, Rowe, D, Steyn, F, Williams, K, Mather, K, Sachdev, P, Henders, A, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, G, Silani, V, Curtis, C, Breen, G, Glass, J, Brown, R, Landers, J, Shaw, C, Andersen, P, Groen, E, van Es, M, Pasterkamp, R, Fan, D, Garton, F, Mcrae, A, Davey Smith, G, Gaunt, T, Eberle, M, Mill, J, Mclaughlin, R, Hardiman, O, Kenna, K, Wray, N, Tsai, E, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, L, Veldink, J, Ferrarese, C, Neurology, ANS - Neuroinfection & -inflammation, APH - Methodology, APH - Quality of Care, EURO-NMD, Internal Medicine, Epidemiology, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), van Rheenen, W., Van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H.J., Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H.J., Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D'Alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc'h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Kraft, J.,Whiteman, David C., Olsen, Catherine M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nothen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Neto, M.M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jork, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hubner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavac, M., Glavac, D., Stevic, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A, Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N, van Es, M.A., Pasterkamp, R.J., Fan, D.S., Garton, F.C., McRae, A.F., Smith, G.D., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E.L., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H., Veldink, J.H., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
Subjects: Male, Genetics and heredity, amyotrophic lateral sclerosis, Neurologi, Glutamine, Medizin, Genome-wide association study, Disease, SUSCEPTIBILITY, Genome-wide association studies, DISEASE, Genètica mèdica, 0302 clinical medicine, neurodegenerative disease, genome-wide association study, ALS, gene, autophagy, Risk Factors, amyotrophic lateral sclerosi, RNA-Seq, Amyotrophic lateral sclerosis, disease-modifying therapies, blood [Cholesterol], Genetics, Genetics & Heredity, Neurons, 0303 health sciences, Medical genetics, Neurodegenerative diseases, Genome-wide association, Mendelian randomization, Frontotemporal dementia, Hexanucleotide repeat, Mutant SOD1, Metaanalysis, ALS, Susceptibility, Identification, Brain, Amyotrophic Lateral Sclerosis, Cholesterol, Disease Progression, Female, Humans, Mendelian Randomization Analysis, Microsatellite Repeats, Neurodegenerative Diseases, Quantitative Trait Loci, Genome-Wide Association Study, Mutation, MUTANT SOD1, genetics [Amyotrophic Lateral Sclerosis], medicine.anatomical_structure, Neurology, risk factor, metabolism [Neurons], MENDELIAN RANDOMIZATION, nerve cell, Life Sciences & Biomedicine, quantitative trait locu, Biology, 03 medical and health sciences, Amyotrophic lateral sclerosis -- Diagnosis, blood, ddc:570, medicine, degenerative disease, Motor neuron disease, human, Genomes, GENOME-WIDE ASSOCIATION, gene, Gene, metabolism [Glutamine], METAANALYSIS, 030304 developmental biology, Mendelian randomization analysi, Science & Technology, HEXANUCLEOTIDE REPEAT, meta analysi, IDENTIFICATION, metabolism [Amyotrophic Lateral Sclerosis], FRONTOTEMPORAL DEMENTIA, medicine.disease, metabolism [Brain], genetics [Neurodegenerative Diseases], Expression quantitative trait loci, disease exacerbation, Neuron, gemone, genetic, Vesicle-mediated transport, metabolism, Nervous system -- Degeneration, Esclerosi lateral amiotròfica, 030217 neurology & neurosurgery
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons., Dutch Research Council (NWO); VENI Scheme Grant; VIDI Grant; Prinses Beatrix Spierfonds; Neuromuscular Fellowship Grant; Medical Research Council (MRC); Clinical Infrastructure Award; Epidemiology Unit; Integrative Epidemiology Unit; Canadian Institutes of Health Research; IWT; National Institute on Aging; National Health and Medical Research Council (NHMRC); Enabling Grant; NHMRC/Australian Research Council Strategic Award; NHMRC; NHMRC Centre of Research Excellence Grant; National Health and Medical Research Council of Australia (NHMRC) Research Fellowship; United Kingdom, Medical Research Council; Economic and Social Research Council; European Union (EU); Horizon 2020; European Community's Health Seventh Framework Programme; EuroMOTOR; European Research Council (ERC); Research and Innovation Programme; EScORIAL; ALS Foundation Netherlands; Alzheimer’s Society PhD Studentship; ARSla Funding; Biogen; University of Bristol; Motor Neurone Disease Association (MNDA); NIHR Maudsley Biomedical Research Centre; Dutch Ministry of Education, Culture, and Science; Netherlands Organization for Scientific Research (NWO; BRAINSCAPES); Gravitation Program; ALS Liga België; National Lottery of Belgium; KU Leuven Opening the Future Fund; KU Leuven Funds, “Een Hart voor ALS”, “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund”; E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders; ALS Liga België; “Live now” Charity Foundation; Moscow ALS palliative Care Service; Canadian Institutes of Health; Research Australia; Ice Bucket Challenge Grant; NIH Intramural Research Programs; FightMND Mid-Career Fellowship; NIHR Senior Investigator; Sheffield NIHR Biomedical Research Centre; Motor Neurone Disease Association; National Institute for Health Research (NIHR) Biomedical Research Centre; Maudsley NHS Foundation Trust; King’s College London; NIHR Senior Investigator Award; Netherlands Organization for Health Research and Development; Vici Scheme; Netherlands Organization for Health Research and Development STRENGTH Project; PPP Allowance
Published: 2021

36. Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.

Author: Cooper‐Knock, Johnathan, Julian, Thomas H., Feneberg, Emily, Highley, J. Robin, Sidra, Maurice, Turner, Martin R., Talbot, Kevin, Ansorge, Olaf, Allen, Scott P., Moll, Tobias, Shelkovnikova, Tatyana, Castelli, Lydia, Hautbergue, Guillaume M., Hewitt, Christopher, Kirby, Janine, Wharton, Stephen B., Mead, Richard J., and Shaw, Pamela J.
Subjects: *AMYOTROPHIC lateral sclerosis, *PROTEIN expression, *MOTOR cortex, *NONSENSE mutation, *MOTOR neurons, *FIBROBLASTS, *GENEALOGY, *MASS spectrometry
Abstract: We describe an autosomal dominant, multi‐generational, amyotrophic lateral sclerosis (ALS) pedigree in which disease co‐segregates with a heterozygous p.Y374X nonsense mutation within TDP‐43. Mislocalization of TDP‐43 and formation of insoluble TDP‐43‐positive neuronal cytoplasmic inclusions is the hallmark pathology in >95% of ALS patients. Neuropathological examination of the single case for which CNS tissue was available indicated typical TDP‐43 pathology within lower motor neurons, but classical TDP‐43‐positive inclusions were absent from motor cortex. The mutated allele is transcribed and translated in patient fibroblasts and motor cortex tissue, but overall TDP‐43 protein expression is reduced compared to wild‐type controls. Despite absence of TDP‐43‐positive inclusions we confirmed deficient TDP‐43 splicing function within motor cortex tissue. Furthermore, urea fractionation and mass spectrometry of motor cortex tissue carrying the mutation revealed atypical TDP‐43 protein species but not typical C‐terminal fragments. We conclude that the p.Y374X mutation underpins a monogenic, fully penetrant form of ALS. Reduced expression of TDP‐43 combined with atypical TDP‐43 protein species and absent C‐terminal fragments extends the molecular phenotypes associated with TDP‐43 mutations and with ALS more broadly. Future work will need to include the findings from this pedigree in dissecting the mechanisms of TDP‐43‐mediated toxicity. [ABSTRACT FROM AUTHOR]
Published: 2023
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37. Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.

Author: Moll, Tobias, Odon, Valerie, Harvey, Calum, Collins, Mark O., Peden, Andrew, Franklin, John, Graves, Emily, Marshall, Jack N. G., dos Santos Souza, Cleide, Sai Zhang, Castelli, Lydia, Hautbergue, Guillaume, Azzouz, Mimoun, Gordon, David, Krogan, Nevan, Ferraiuolo, Laura, Snyder, Michael P., Shaw, Pamela J., Rehwinkel, Jan, and Cooper-Knock, Johnathan
Published: 2023
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38. A review of Mendelian randomization in amyotrophic lateral sclerosis

Author: Julian, Thomas H, primary, Boddy, Sarah, additional, Islam, Mahjabin, additional, Kurz, Julian, additional, Whittaker, Katherine J, additional, Moll, Tobias, additional, Harvey, Calum, additional, Zhang, Sai, additional, Snyder, Michael P, additional, McDermott, Christopher, additional, Cooper-Knock, Johnathan, additional, and Shaw, Pamela J, additional
Published: 2021
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39. Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes

Author: Julian, Thomas H, primary, Glascow, Nicholas, additional, Barry, A Dylan Fisher, additional, Moll, Tobias, additional, Harvey, Calum, additional, Klimentidis, Yann C, additional, Newell, Michelle, additional, Zhang, Sai, additional, Snyder, Michael P, additional, Cooper-Knock, Johnathan, additional, and Shaw, Pamela J, additional
Published: 2021
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40. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author: van Rheenen, Wouter, van der Spek, Rick A A, Shireby, Gemma, Whiteman, David C, Olsen, Catherine M, Uitterlinden, Andre G, Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Consortium, SLALOM, Consortium, PARALS, Hannon, Eilis, Consortium, SLAGEN, Consortium, SLAP, Traynor, Bryan J, Singleton, Andrew B, Mitne Neto, Miguel, Cauchi, Ruben J, Ophoff, Roel A, Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M, Moisse, Matthieu, Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W, Steinbach, Robert, Baird, Denis, Hübner, Christian A, Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Restuadi, Restuadi, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P, Kiernan, Matthew C, Benyamin, Beben, Henderson, Robert D, Furlong, Sarah, Mathers, Susan, Dolzhenko, Egor, McCombe, Pamela A, Needham, Merrilee, Ngo, Shyuan T, Nicholson, Garth A, Pamphlett, Roger, Rowe, Dominic B, Steyn, Frederik J, Williams, Kelly L, Mather, Karen A, Sachdev, Perminder S, Dekker, Annelot M, Henders, Anjali K, Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A, Silani, Vincenzo, Curtis, Charles J, Breen, Gerome, Gawor, Klara, Glass, Jonathan D, Brown, Robert H, Landers, John E, Shaw, Christopher E, Andersen, Peter M, Groen, Ewout J N, van Es, Michael A, Pasterkamp, R Jeroen, Fan, Dongsheng, Garton, Fleur C, Westeneng, Henk-Jan, McRae, Allan F, Davey Smith, George, Gaunt, Tom R, Eberle, Michael A, Mill, Jonathan, McLaughlin, Russell L, Hardiman, Orla, Kenna, Kevin P, Wray, Naomi R, Tsai, Ellen, Tazelaar, Gijs H P, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H, Veldink, Jan H, Comi, Giancarlo, Riva, Nilo, Lunetta, Christian, Gerardi, Francesca, Bakker, Mark K, van Eijk, Kristel R, Cotelli, Maria Sofia, Rinaldi, Fabrizio, Chiveri, Luca, Guaita, Maria Cristina, Perrone, Patrizia, Ceroni, Mauro, Diamanti, Luca, Ferrarese, Carlo, Tremolizzo, Lucio, Delodovici, Maria Luisa, Kooyman, Maarten, Bono, Giorgio, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Byrne, Ross P, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Palumbo, Francesca, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, Doherty, Mark, De Marchi, Fabiola, Corrado, Lucia, D'Alfonso, Sandra, Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Imperiale, Daniele, Cavallo, Roberto, Pignatta, Pietro, Heverin, Mark, De Mattei, Marco, Geda, Claudio, Papurello, Diego Maria, Gusmaroli, Graziano, Comi, Cristoforo, Labate, Carmelo, Ruiz, Luigi, Ferrandi, Delfina, Rota, Eugenia, Aguggia, Marco, Al Khleifat, Ahmad, Di Vito, Nicoletta, Meineri, Piero, Ghiglione, Paolo, Launaro, Nicola, Dotta, Michele, Di Sapio, Alessia, Giardini, Guido, Tiloca, Cinzia, Peverelli, Silvia, Taroni, Franco, Iacoangeli, Alfredo, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P, Del Bo, Roberto, Gagliardi, Stella, Raggi, Flavia, Simoncini, Costanza, Shatunov, Aleksey, Lo Gerfo, Annalisa, Inghilleri, Maurizio, Ferlini, Alessandra, Simone, Isabella L, Passarella, Bruno, Guerra, Vito, Zoccolella, Stefano, Nozzoli, Cecilia, Mundi, Ciro, Leone, Maurizio, Ticozzi, Nicola, Zarrelli, Michele, Tamma, Filippo, Valluzzi, Francesco, Calabrese, Gianluigi, Boero, Giovanni, Rini, Augusto, Cooper-Knock, Johnathan, van Vugt, Joke J F A, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Hop, Paul J, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, Zwamborn, Ramona A J, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Grassano, Maurizio, de Klein, Niek, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Westra, Harm-Jan, Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Bakker, Olivier B, Dion, Patrick A, Ross, Jay P, Ludolph, Albert, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Dürr, Alexandra, Payan, Christine A M, Deelen, Patrick, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia
Subjects: ddc:570, Genetics, Medizin
Abstract: In the version of this article initially published, the affiliation for Nazli Başak appeared incorrectly. Nazli Başak is at Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey, and not Bogazici University. The error has been corrected in the HTML and PDF versions of the article.
Published: 2021

41. Advances in the genetic classification of amyotrophic lateral sclerosis

Author: TN groep Pasterkamp, Brain, Neurogenetica, Neurologen, Cooper-Knock, Johnathan, Harvey, Calum, Zhang, Sai, Moll, Tobias, Timpanaro, Ilia Sarah, Kenna, Kevin P., Iacoangeli, Alfredo, Veldink, Jan H., TN groep Pasterkamp, Brain, Neurogenetica, Neurologen, Cooper-Knock, Johnathan, Harvey, Calum, Zhang, Sai, Moll, Tobias, Timpanaro, Ilia Sarah, Kenna, Kevin P., Iacoangeli, Alfredo, and Veldink, Jan H.
Published: 2021

42. Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

Author: Cooper-Knock, Johnathan, Walsh, Matthew J., Higginbottom, Adrian, Robin Highley, J., Dickman, Mark J., Edbauer, Dieter, Ince, Paul G., Wharton, Stephen B., Wilson, Stuart A., Kirby, Janine, Hautbergue, Guillaume M., and Shaw, Pamela J.
Published: 2014
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43. Microglia in Motor Neuron Disease

Author: Ashford, Bridget A., Boche, Delphine, Cooper-Knock, Johnathan, Heath, Paul R., Simpson, Julie E., and Highley, J. Robin
Abstract: Motor Neuron Disease (MND) is a fatal neurodegenerative condition, which is characterised by the selective loss of the upper and lower motor neurons. At the sites of motor neuron injury, accumulations of activated microglia, the primary immune cells of the central nervous system, are commonly observed in both human post-mortem studies and animal models of MND. Microglial activation has been found to correlate with many clinical features and importantly, the speed of disease progression in humans. Both anti-inflammatory and pro-inflammatory microglial responses have been shown to influence disease progression in humans and models of MND. As such, microglia could both contribute to and protect against inflammatory mechanisms of pathogenesis in MND. While murine models have characterised the microglial response to MND, these studies have painted a complex and often -contradictory picture, indicating a need for further characterisation in humans. This review examines the potential role microglia play in MND, in human and animal studies. Both the pro-inflammatory and anti-inflammatory responses will be addressed, throughout the course of disease, followed by the potential of microglia as a target in the development of disease modifying treatments for MND.
Published: 2020

44. Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene

Author: Cooper-Knock, Johnathan, primary, Zhang, Sai, additional, Kenna, Kevin P., additional, Moll, Tobias, additional, Franklin, John P., additional, Allen, Samantha, additional, Nezhad, Helia Ghahremani, additional, Iacoangeli, Alfredo, additional, Yacovzada, Nancy Y., additional, Eitan, Chen, additional, Hornstein, Eran, additional, Elhaik, Eran, additional, Celadova, Petra, additional, Bose, Daniel, additional, Farhan, Sali, additional, Fishilevich, Simon, additional, Lancet, Doron, additional, Morrison, Karen E., additional, Shaw, Christopher E., additional, Al-Chalabi, Ammar, additional, Veldink, Jan H., additional, Kirby, Janine, additional, Snyder, Michael P., additional, and Shaw, Pamela J., additional
Published: 2021
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45. Spatiotemporal Proteomic Analysis of Stress Granule Disassembly Using APEX Reveals Regulation by SUMOylation and Links to ALS Pathogenesis

Author: Marmor-Kollet, Hagai, primary, Siany, Aviad, additional, Kedersha, Nancy, additional, Knafo, Naama, additional, Rivkin, Natalia, additional, Danino, Yehuda M., additional, Moens, Thomas G., additional, Olender, Tsviya, additional, Sheban, Daoud, additional, Cohen, Nir, additional, Dadosh, Tali, additional, Addadi, Yoseph, additional, Ravid, Revital, additional, Eitan, Chen, additional, Toth Cohen, Beata, additional, Hofmann, Sarah, additional, Riggs, Claire L., additional, Advani, Vivek M., additional, Higginbottom, Adrian, additional, Cooper-Knock, Johnathan, additional, Hanna, Jacob H., additional, Merbl, Yifat, additional, Van Den Bosch, Ludo, additional, Anderson, Paul, additional, Ivanov, Pavel, additional, Geiger, Tamar, additional, and Hornstein, Eran, additional
Published: 2020
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46. Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Author: Cooper-Knock, Johnathan, primary, Zhang, Sai, additional, Kenna, Kevin P., additional, Moll, Tobias, additional, Franklin, John P., additional, Allen, Samantha, additional, Nezhad, Helia Ghahremani, additional, Iacoangeli, Alfredo, additional, Yacovzada, Nancy Y., additional, Eitan, Chen, additional, Hornstein, Eran, additional, Elhaik, Eran, additional, Celadova, Petra, additional, Bose, Daniel, additional, Farhan, Sali, additional, Fishilevich, Simon, additional, Lancet, Doron, additional, Morrison, Karen E., additional, Shaw, Christopher E., additional, Al-Chalabi, Ammar, additional, Veldink, Jan H., additional, Kirby, Janine, additional, Snyder, Michael P., additional, Shaw, Pamela J., additional, Blair, Ian, additional, Wray, Naomi, additional, Kiernan, Matthew, additional, Neto, Miguel Mitne, additional, Chio, Adriano, additional, Cauchi, Ruben, additional, Robberecht, Wim, additional, van Damme, Philip, additional, Corcia, Phillippe, additional, Couratier, Phillipe, additional, Hardiman, Orla, additional, McLaughlin, Russel, additional, Gotkine, Marc, additional, Drory, Vivan, additional, Ticozzi, Nicola, additional, Silani, Vincenzo, additional, Veldink, Jan, additional, van den Berg, Leonard, additional, de Carvalho, Mamede, additional, Pardina, Jesus Mora, additional, Povedano, Monica, additional, Andersen, Peter, additional, Wber, Markus, additional, Başak, Nazli, additional, Shaw, Christopher, additional, Shaw, Pamela, additional, Morrison, Karen, additional, Landers, John, additional, and Glass, Jonathan, additional
Published: 2020
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47. A review of Mendelian randomization in amyotrophic lateral sclerosis.

Author: Julian, Thomas H, Boddy, Sarah, Islam, Mahjabin, Kurz, Julian, Whittaker, Katherine J, Moll, Tobias, Harvey, Calum, Zhang, Sai, Snyder, Michael P, McDermott, Christopher, Cooper-Knock, Johnathan, and Shaw, Pamela J
Subjects: RESEARCH evaluation, TYPE 2 diabetes, AMYOTROPHIC lateral sclerosis, RESEARCH funding, NEURODEGENERATION, LIPIDS
Abstract: Amyotrophic lateral sclerosis is a relatively common and rapidly progressive neurodegenerative disease that, in the majority of cases, is thought to be determined by a complex gene-environment interaction. Exponential growth in the number of performed genome-wide association studies combined with the advent of Mendelian randomization is opening significant new opportunities to identify environmental exposures that increase or decrease the risk of amyotrophic lateral sclerosis. Each of these discoveries has the potential to shape new therapeutic interventions. However, to do so, rigorous methodological standards must be applied in the performance of Mendelian randomization. We have reviewed Mendelian randomization studies performed in amyotrophic lateral sclerosis to date. We identified 20 Mendelian randomization studies, including evaluation of physical exercise, adiposity, cognitive performance, immune function, blood lipids, sleep behaviours, educational attainment, alcohol consumption, smoking and type 2 diabetes mellitus. We have evaluated each study using gold standard methodology supported by the Mendelian randomization literature and the STROBE-Mendelian randomization checklist. Where discrepancies exist between Mendelian randomization studies, we suggest the underlying reasons. A number of studies conclude that there is a causal link between blood lipids and risk of amyotrophic lateral sclerosis; replication across different datasets and even different populations adds confidence. For other putative risk factors, such as smoking and immune function, Mendelian randomization studies have provided cause for doubt. We highlight the use of positive control analyses in choosing exposure single nucleotide polymorphisms (SNPs) to make up the Mendelian randomization instrument, use of SNP clumping to avoid false positive results due to SNPs in linkage and the importance of multiple testing correction. We discuss the implications of survival bias for study of late age of onset diseases such as amyotrophic lateral sclerosis and make recommendations to mitigate this potentially important confounder. For Mendelian randomization to be useful to the amyotrophic lateral sclerosis field, high methodological standards must be applied to ensure reproducibility. Mendelian randomization is already an impactful tool, but poor-quality studies will lead to incorrect interpretations by a field that includes non-statisticians, wasted resources and missed opportunities. [ABSTRACT FROM AUTHOR]
Published: 2022
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48. Gene expression profiling in human neurodegenerative disease

Author: Cooper-Knock, Johnathan, Kirby, Janine, Ferraiuolo, Laura, Heath, Paul R., Rattray, Magnus, and Shaw, Pamela J.
Published: 2012
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49. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

Author: Cooper-Knock, Johnathan, Hewitt, Christopher, Highley, J. Robin, Brockington, Alice, Milano, Antonio, Man, Somai, Martindale, Joanne, Hartley, Judith, Walsh, Theresa, Gelsthorpe, Catherine, Baxter, Lynne, Forster, Gillian, Fox, Melanie, Bury, Joanna, Mok, Kin, McDermott, Christopher J., Traynor, Bryan J., Kirby, Janine, Wharton, Stephen B., Ince, Paul G., Hardy, John, and Shaw, Pamela J.
Published: 2012
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50. Transcriptomic Analysis of Age-Associated Periventricular Lesions Reveals Dysregulation of the Immune Response

Author: Fadul, Motaz M., primary, Heath, Paul R., additional, Cooper-Knock, Johnathan, additional, Kurz, Julian M., additional, Al-Azzawi, Hayder A., additional, Ali, Zarki, additional, Smith, Taylor, additional, Matthews, Fiona E., additional, Brayne, Carol, additional, Wharton, Stephen B., additional, and Simpson, Julie E., additional
Published: 2020
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