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1. Association of British Neurologists: UK neurology workforce survey

Author

Nitkunan, Arani, Lawrence, Joanne, and Reilly, Mary M

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

A neurology workforce survey was conducted by the Association of British Neurologists and compared with the annual Royal College of Physicians census in November 2018-March 2019. 46% of consultants and 35% of trainees responded. Based on the clinical work contracted (excluding academic and other work), the calculated number of consultant neurologists was 1 per 91,175 of the population. There is significant geographical variation in the number of consultants throughout the UK. There is a gradual shift when comparing the trainee and consultant data towards better gender and ethnic representation in the former. The data highlights potential future workforce planning issues including the potential impact of the increasing number of female trainees.

Published
2020
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2. Phenotypic, Electrophysiologic, and Imaging Spectrum of Hirayama Disease from Northern India

Author

Gomathy, Saranya B, Priyanka, Yamini, Garg, Ajay, Macken, William L, Agarwal, Ayush, Ahmed, Tanveer, Bhatia, Rohit, Goel, Vinay, Garg, Kanwaljeet, Pitceathly, Robert DS, Reilly, Mary M, Hanna, Michael G, Srivastava, MV Padma, and Vishnu, Venugopalan Y

Subjects
Diagnosis, Care and treatment, Usage, Physiological aspects, Health aspects, Neck -- Physiological aspects -- Health aspects, Monomelic amyotrophy -- Diagnosis -- Care and treatment, Magnetic resonance imaging -- Usage
Abstract

Author(s): Saranya B Gomathy [1]; Yamini Priyanka [2]; Ajay Garg [3]; William L Macken [4,5]; Ayush Agarwal [2]; Tanveer Ahmed [2]; Rohit Bhatia [2]; Vinay Goel [3]; Kanwaljeet Garg [6]; [...], Background and Objectives: Cervical flexion-induced myelopathy, also known as Hirayama disease (HD), is a lower motor neuron disorder seen mainly in adolescents and young adults, affecting the C7-T1 myotomes, presenting as asymmetric weakness with wasting of one or both the distal upper limbs. We aimed to describe the clinical features, electrophysiology, and radiologic features of HD in a tertiary care institute in northern India. Methods: One hundred and forty patients between 2017 and 2022 with clinical and imaging features consistent with HD were retrospectively reviewed from the All India Institute of Medical Sciences-Comprehensive Neuromuscular Diseases center database. Results: Majority were males with the mean age of onset of illness being 17.8 years. The median duration of the symptoms was 3 (1.5-4) years. Sixty-nine (49%) patients had unilateral involvement, and the disease was actively progressing in 88 (63%) patients at presentation. Two families had history of HD in two (1.4%) siblings. Electromyography showed abnormal findings in the clinically involved limb in all the patients and in the clinically uninvolved limb in 17/50 (34%) patients. Flexion magnetic resonance imaging (MRI) demonstrated forward dural displacement in 134 (96%) patients and asymmetric cord flattening in 124 (88.5%) patients. Disability was graded as mild, moderate, and severe; 12 (13%) had severe disability. The majority were managed conservatively, and four underwent surgery for HD. Conclusion: A high index of suspicion of HD needs to be kept in a young male presenting with distal upper limb weakness and atrophy. Dynamic MRI of the cervical spine in young adults presenting with hand wasting is inevitable. This disease needs to be managed aggressively and early to prevent serious dysfunction and loss of productivity. Keywords: Hirayama disease, dynamic MRI, electromyography, cervical collar

Published
2024
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5. The GENESIS database and tools: A decade of discovery in Mendelian genomics

Author

Danzi, Matt C., Powell, Eric, Rebelo, Adriana P., Dohrn, Maike F., Beijer, Danique, Fazal, Sarah, Xu, Isaac R.L., Medina, Jessica, Chen, Sitong, Arcia de Jesus, Yeisha, Schatzman, Jacquelyn, Hershberger, Ray E., Saporta, Mario, Baets, Jonathan, Falk, Marni, Herrmann, David N., Scherer, Steven S., Reilly, Mary M., Cortese, Andrea, Marques, Wilson, Cornejo-Olivas, Mario R., Sanmaneechai, Oranee, Kennerson, Marina L., Jordanova, Albena, Silva, Thiago Y.T., Pedroso, Jose Luiz, Schierbaum, Luca, Ebrahimi-Fakhari, Darius, Peric, Stojan, Lee, Yi-Chung, Synofzik, Matthis, Tekin, Mustafa, Ravenscroft, Gianina, Shy, Mike, Basak, Nazli, Schule, Rebecca, and Zuchner, Stephan

Published
2024
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7. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

Author

Jurkute, Neringa, Shanmugarajah, Priya D, Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G, Raymond, F Lucy, Reilly, Mary M, Yu-Wai-Man, Patrick, Moore, Anthony T, Webster, Andrew R, Arno, Gavin, and Consortium, for the Genomics England Research

Subjects
Rare Diseases, Clinical Research, Genetics, Biotechnology, Neurosciences, Eye Disease and Disorders of Vision, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Child, Child, Preschool, Electroretinography, Female, Ferredoxin-NADP Reductase, Humans, Male, Mutation, Missense, Pedigree, Phenotype, Retina, Retinal Dystrophies, Retrospective Studies, Visual Acuity, Exome Sequencing, Young Adult, FDXR, ferredoxin reductase, syndromic optic neuropathy, retinal dystrophy, neurodegenerative disorder, iron accumulation, Genomics England Research Consortium, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry
Abstract

PurposeThe purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants.MethodsPatients carrying biallelic candidate FDXR variants were identified by whole genome sequencing (WGS) as part of the National Institute for Health Research BioResource rare-disease and the UK's 100,000 Genomes Project (100KGP) with an additional case identified by exome sequencing. Retrospective clinical data were collected from the medical records. Haplotype reconstruction was performed in families harboring the same missense variant.ResultsTen individuals from 8 unrelated families with biallelic candidate variants in FDXR were identified. In addition to bilateral optic atrophy and variable extra-ocular findings, 7 of 10 individuals manifested retinal dystrophy comprising dysfunction and degeneration of both rod and cone photoreceptors. Five of 10 subjects had sensorineural hearing loss. The previously unreported missense variant (c.1115C > A, p.(Pro372His)) was found in 5 of 8 (62.5%) study families. Haplotype reconstruction using WGS data demonstrated a likely ancestral haplotype.ConclusionsFDXR-associated disease is a phenotypically heterogeneous disorder with retinal dystrophy being a major clinical feature observed in this cohort. In addition, we hypothesize that a number of factors are likely to drive the pathogenesis of optic atrophy, retinal degeneration, and perhaps the associated systemic manifestations.

Published
2021

9. Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

Author

Esteller, Diana, Morrow, Jasper, Alonso-Pérez, Jorge, Reyes, David, Carbayo, Alvaro, Bisogni, Giulia, Cateruccia, Michela, Monforte, Mauro, Tasca, Giorgio, Alangary, Aljwhara, Marini-Bettolo, Chiara, Sabatelli, Mario, Laura, Matilde, Ramdharry, Gita, Bolaño-Díaz, Carla, Turon-Sans, Janina, Töpf, Ana, Guglieri, Michella, Rossor, Alexander M., Olive, Montse, Bertini, Enrico, Straub, Volker, Reilly, Mary M., Rojas-García, Ricard, and Díaz-Manera, Jordi

Published
2023
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12. TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Author

Kosmanopoulos, Gage P, Donohue, Jack K, Hoke, Maya, Thomas, Simone, Peyton, Margo A, Vo, Linh, Crawford, Thomas O, Sadjadi, Reza, Herrmann, David N, Yum, Sabrina W, Reilly, Mary M, Scherer, Steven S, Finkel, Richard S, Lewis, Richard A, Pareyson, Davide, Pisciotta, Chiara, Walk, David, Shy, Michael E, Sumner, Charlotte J, and Network, Inherited Neuropathies Consortium - Rare Disease Clinical Research

Subjects
SPINAL muscular atrophy, AGE of onset, NEUROMUSCULAR diseases, VOCAL cords, CHARCOT-Marie-Tooth disease
Abstract

Dominant missense mutations of the calcium-permeable cation channel TRPV4 cause Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spinal muscular atrophy. These conditions are collectively referred to as TRPV4-related neuromuscular disease and share features of motor greater than sensory dysfunction and frequent vocal fold weakness. Pathogenic variants lead to gain of ion channel function that can be rescued by TRPV4 antagonists in cellular and animal models. As small molecule TRPV4 antagonists have proven safe in trials for other disease indications, channel inhibition is a promising therapeutic strategy for TRPV4 patients. However, the current knowledge of the clinical features and natural history of TRPV4-related neuromuscular disease is insufficient to enable rational clinical trial design. To address these issues, we developed a TRPV4 patient database and administered a TRPV4-specific patient questionnaire. Here, we report demographic and clinical information, including CMT Examination Scores (CMTES), from 68 patients with known pathogenic TRPV4 variants, 40 of whom also completed the TRPV4 patient questionnaire. TRPV4 patients showed a bimodal age of onset, with the largest peak occurring in the first 2 years of life. Compared to CMT type 1A (CMT1A) patients, TRPV4 patients showed distinct symptoms and signs, manifesting more ambulatory difficulties and more frequent involvement of proximal arm and leg muscles. Although patients reported fewer sensory symptoms, sensory dysfunction was often detected clinically. Many patients were affected by vocal fold weakness (55%) and shortness of breath (55%), and 11% required ventilatory support. Skeletal abnormalities were common, including scoliosis (64%), arthrogryposis (33%) and foot deformities. Strikingly, patients with infantile onset of disease showed less sensory involvement and less progression of symptoms. These results highlight distinctive clinical features in TRPV4 patients, including motor-predominant disease, proximal arm and leg weakness, severe ambulatory difficulties, vocal fold weakness, respiratory dysfunction and skeletal involvement. In addition, patients with infantile onset of disease appeared to have a distinct phenotype with less apparent disease progression based on CMTES. These collective observations indicate that clinical trial design for TRPV4-related neuromuscular disease should include outcome measures that reliably capture non-length dependent motor dysfunction, vocal fold weakness and respiratory disease. [ABSTRACT FROM AUTHOR]

Published
2025
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15. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Author

McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, and Tucci, Arianna

Published
2022
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19. Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Author

Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M., DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G., Vandrovcova, Jana, and Pitceathly, Robert D. S.

Published
2022
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20. Genetic pain loss disorders

Author

Lischka, Annette, Lassuthova, Petra, Çakar, Arman, Record, Christopher J., Van Lent, Jonas, Baets, Jonathan, Dohrn, Maike F., Senderek, Jan, Lampert, Angelika, Bennett, David L., Wood, John N., Timmerman, Vincent, Hornemann, Thorsten, Auer-Grumbach, Michaela, Parman, Yesim, Hübner, Christian A., Elbracht, Miriam, Eggermann, Katja, Geoffrey Woods, C., Cox, James J., Reilly, Mary M., and Kurth, Ingo

Published
2022
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21. An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions

Author

Clark, Alex J., Kugathasan, Umaiyal, Baskozos, Georgios, Priestman, David A., Fugger, Nadine, Lone, Museer A., Othman, Alaa, Chu, Ka Hing, Blesneac, Iulia, Wilson, Emma R., Laurà, Matilde, Kalmar, Bernadett, Greensmith, Linda, Hornemann, Thorsten, Platt, Frances M., Reilly, Mary M., and Bennett, David L.

Published
2021
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23. Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Author

Frezatti, Rodrigo Siqueira Soares, Tomaselli, Pedro José, Record, Christopher J, Wilson, Lindsay A, Alves, Gustavo Maximiano, Dominik, Natalia, Efthymiou, Stephanie, Patel, Krutik, Vandrovcova, Jana, Männikkö, Roope, Pitceathly, Robert D S, Sobreira, Claudia Ferreira da Rosa, McFarland, Robert, Taylor, Robert W, Houlden, Henry, Hanna, Michael G, Reilly, Mary M, and Marques, Wilson

Published
2024
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25. Assessing non-Mendelian inheritance in inherited axonopathies

Author

Bis-Brewer, Dana M., Gan-Or, Ziv, Sleiman, Patrick, Rodriguez, Aixa, Bacha, Alexa, Kosikowski, Ashley, Wood, Beth, McCray, Brett, Blume, Brianna, Siskind, Carly, Sumner, Charlotte, Calabrese, Daniela, Walk, David, Vujovic, Dragan, Park, Eun, Muntoni, Francesco, Donlevy, Gabrielle, Acsadi, Gyula, Day, John, Burns, Joshua, Li, Jun, Krajewski, Karen, Eichinger, Kate, Cornett, Kayla, Mullen, Krista, Perez, Laura, Gutmann, Laurie, Barrett, Maria, Saporta, Mario, Skorupinska, Mariola, Grant, Natalie, Bray, Paula, Seyedsadjadi, Reza, Zuccarino, Riccardo, Finkel, Richard, Lewis, Richard, Yum, Sabrina, Hilbert, Sarah, Thomas, Simone, Behrens-Spraggins, Steffen, Jones, Tara, Grider, Tiffany, Estilow, Tim, Fridman, Vera, Reilly, Mary M., Shy, Michael E., Bacon, Chelsea J., Feely, Shawna M.E., Rossor, Alexander M., Herrmann, David N., Hakonarson, Hakon, Fazal, Sarah, Courel, Steve, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A., Tarnopolsky, Mark, Boycott, Kym M., Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E., Rouleau, Guy, Schüle, Rebecca, and Züchner, Stephan

Published
2020
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26. Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

Author

Dominik, Natalia, primary, Efthymiou, Stephanie, additional, Record, Christopher J, additional, Miao, Xinyu, additional, Lin, Renee, additional, Parmar, Jevin, additional, Scardamaglia, Annarita, additional, Maroofian, Reza, additional, Aughey, Gabriel, additional, Wilson, Abigail, additional, Lowe, Simon, additional, Curro, Riccardo, additional, Schnekenberg, Ricardo P, additional, Alavi, Shahryar, additional, Leclaire, Leif, additional, He, Yi, additional, Zhelchenska, Kristina, additional, Bellaiche, Yohanns, additional, Gaugue, Isabelle, additional, Skorupinska, Mariola, additional, Van de Vondel, Liedewei, additional, Da'as, Sahar, additional, Turchetti, Valentina, additional, Gungor, Serdal, additional, Karimiani, Ehsan Ghayoor, additional, Armirola Ricaurte, Camila, additional, Topaloglu, Haluk, additional, Jordanova, Albena, additional, Zaman, Mashaya, additional, Banu, Selina H, additional, Marques, Wilson, additional, Tomaselli, Pedro Jose, additional, Aynekin, Busra, additional, Cansu, Ali, additional, Per, Huseyin, additional, Gulec, Ayten, additional, Alvi, Javeria Raza, additional, Sultan, Tipu, additional, Khan, Arif, additional, Zifarelli, Giovanni, additional, Ibrahim, Shahnaz, additional, Mancini, Grazia M.S., additional, Motazacker, M. Mahdi, additional, Brusse, Esther, additional, Lupo, Vincenzo, additional, Sevilla, Teresa, additional, Tekgul, Seyma, additional, Palvadeau, Robin, additional, Basak, A Nazli, additional, Baets, Jonathan, additional, Parman, Yesim, additional, Cakar, Arman, additional, Horvath, Rita, additional, Haack, Tobias B, additional, Stahl, Jan-Hendrik, additional, Grundmann-Hauser, Kathrin, additional, Park, Joohyun, additional, Zuchner, Stephan, additional, Laing, Nigel G, additional, Wilson, Lindsay, additional, Rossor, Alexander M., additional, Polke, James, additional, Figueiredo, Fernanda Barbosa, additional, Pessoa, Andre Luiz, additional, Kok, Fernando, additional, Coimbra-Neto, Antonio Rodrigues, additional, Franca, Marcondes C, additional, Jamshidi, Yalda, additional, Ravenscroft, Gianina, additional, Ahmed Hamed, Sherifa, additional, Chung, Wendy K., additional, Osborn, Daniel P, additional, Hanna, Michael, additional, Cortese, Andrea, additional, Jepson, James E C, additional, Reilly, Mary M, additional, Lamarche-Vane, Nathalie, additional, and Houlden, Henry, additional

Published
2024
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27. Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A

Author

Doherty, Carolynne M., primary, Howard, Paige, additional, O'Donnell, Luke F., additional, Zuccarino, Riccardo, additional, Wastling, Stephen, additional, Milev, Evelin, additional, Banks, Tina, additional, Shah, Sachit, additional, Zafeiropoulos, Nick, additional, Stephens, Katherine J., additional, Sarkozy, Anna, additional, Grider, Tiffany, additional, Feely, Shawna M. E., additional, Manzur, Adnan, additional, Shy, Rosemary R., additional, Skorupinska, Mariola, additional, Pipis, Menelaos, additional, Nicolaisen, Emma, additional, McDowell, Amy, additional, Dilek, Nuran, additional, Rossor, Alexander M., additional, Laura, Matilde, additional, Clark, Christopher, additional, Muntoni, Francesco, additional, Thedens, Daniel, additional, Thornton, John, additional, Morrow, Jasper M., additional, Shy, Michael E., additional, and Reilly, Mary M., additional

Published
2024
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28. Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination

Author

Ayuso-García, Paula, primary, Sánchez-Rueda, Alejandro, additional, Velasco-Avilés, Sergio, additional, Tamayo-Caro, Miguel, additional, Ferrer-Pinós, Aroa, additional, Huarte-Sebastian, Cecilia, additional, Alvarez, Vanesa, additional, Riobello, Cristina, additional, Jiménez-Vega, Selene, additional, Buendia, Izaskun, additional, Cañas-Martin, Jorge, additional, Fernández-Susavila, Héctor, additional, Aparicio-Rey, Adrián, additional, Esquinas-Román, Eva M., additional, Ponte, Carlos Rodríguez, additional, Guhl, Romane, additional, Laville, Nicolas, additional, Pérez-Andrés, Encarni, additional, Lavín, José L., additional, González-Lopez, Monika, additional, Cámara, Nuria Macías, additional, Aransay, Ana M., additional, Lozano, Juan José, additional, Sutherland, James D., additional, Barrio, Rosa, additional, Martinez-Chantar, María Luz, additional, Azkargorta, Mikel, additional, Elortza, Félix, additional, Soriano-Navarro, Mario, additional, Matute, Carlos, additional, Sánchez-Gómez, María Victoria, additional, Bayón-Cordero, Laura, additional, Pérez-Samartín, Alberto, additional, Bravo, Susana B., additional, Kurz, Thimo, additional, Lama-Díaz, Tomas, additional, Blanco, Miguel G., additional, Haddad, Saif, additional, Record, Christopher J., additional, van Hasselt, Peter M., additional, Reilly, Mary M., additional, Varela-Rey, Marta, additional, and Woodhoo, Ashwin, additional

Published
2024
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33. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

Author

Horga, Alejandro, Manole, Andreea, Mitchell, Alice L., Bugiardini, Enrico, Hargreaves, Iain P., Mowafi, Walied, Bettencourt, Conceição, Blakely, Emma L., He, Langping, Polke, James M., Woodward, Catherine E., Dalla Rosa, Ilaria, Shah, Sachit, Pittman, Alan M., Quinlivan, Ros, Reilly, Mary M., Taylor, Robert W., Holt, Ian J., Hanna, Michael G., Pitceathly, Robert D. S., Spinazzola, Antonella, and Houlden, Henry

Published
2021
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34. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Author

Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, Jame, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, Jame, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthi, Stojkovic, Tanya, Hadjivassiliou, Mario, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, Null, Null, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, Jame, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, Jame, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthi, Stojkovic, Tanya, Hadjivassiliou, Mario, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, Null, Null, and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)

Abstract

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multi-variate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases. A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset (smaller allele HR = 2.06, p < 0.001; larger allele HR = 1.53, p < 0.001) and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, p < 0.001; larger allele HR = 1.71, p = 0.002) or loss of independent walking (smaller allele HR = 2.78, p < 0.001; larger allele HR = 1.60; p < 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions (smaller allele: complex neuropathy RR = 1.30, p = 0.003; CANVAS RR = 1.34, p < 0.001; larger allele: complex neuropathy RR = 1.33, p = 0.008; CANVAS RR = 1.31, p = 0

Published
2024

35. Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination

Author

Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Ayuso-García, Paula, Sánchez-Rueda, Alejandro, Velasco-Avilés, Sergio, Tamayo-Caro, Miguel, Ferrer-Pinós, Aroa, Huarte-Sebastian, Cecilia, Alvarez, Vanesa, Riobello, Cristina, Jiménez-Vega, Selene, Buendia, Izaskun, Cañas-Martin, Jorge, Fernández-Susavila, Héctor, Aparicio-Rey, Adrián, Esquinas-Román, Eva M., Ponte, Carlos Rodríguez, Guhl, Romane, Laville, Nicolas, Pérez-Andrés, Encarni, Lavín, José L., González-Lopez, Monika, Cámara, Nuria Macías, Aransay, Ana M., Lozano, Juan José, Sutherland, James D., Barrio, Rosa, Martinez-Chantar, María Luz, Azkargorta, Mikel, Elortza, Félix, Soriano-Navarro, Mario, Matute, Carlos, Sánchez-Gómez, María Victoria, Bayón-Cordero, Laura, Pérez-Samartín, Alberto, Bravo, Susana B., Kurz, Thimo, Lama-Díaz, Tomas, Blanco, Miguel G., Haddad, Saif, Record, Christopher J., van Hasselt, Peter M., Reilly, Mary M., Varela-Rey, Marta, Woodhoo, Ashwin, Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Ayuso-García, Paula, Sánchez-Rueda, Alejandro, Velasco-Avilés, Sergio, Tamayo-Caro, Miguel, Ferrer-Pinós, Aroa, Huarte-Sebastian, Cecilia, Alvarez, Vanesa, Riobello, Cristina, Jiménez-Vega, Selene, Buendia, Izaskun, Cañas-Martin, Jorge, Fernández-Susavila, Héctor, Aparicio-Rey, Adrián, Esquinas-Román, Eva M., Ponte, Carlos Rodríguez, Guhl, Romane, Laville, Nicolas, Pérez-Andrés, Encarni, Lavín, José L., González-Lopez, Monika, Cámara, Nuria Macías, Aransay, Ana M., Lozano, Juan José, Sutherland, James D., Barrio, Rosa, Martinez-Chantar, María Luz, Azkargorta, Mikel, Elortza, Félix, Soriano-Navarro, Mario, Matute, Carlos, Sánchez-Gómez, María Victoria, Bayón-Cordero, Laura, Pérez-Samartín, Alberto, Bravo, Susana B., Kurz, Thimo, Lama-Díaz, Tomas, Blanco, Miguel G., Haddad, Saif, Record, Christopher J., van Hasselt, Peter M., Reilly, Mary M., Varela-Rey, Marta, and Woodhoo, Ashwin

Published
2024

39. Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity

Author

Maroofian, Reza, primary, Sarraf, Payam, additional, O’Brien, Thomas J, additional, Kamel, Mona, additional, Cakar, Arman, additional, Elkhateeb, Nour, additional, Lau, Tracy, additional, Patil, Siddaramappa Jagdish, additional, Record, Christopher J, additional, Horga, Alejandro, additional, Essid, Miriam, additional, Selim, Laila, additional, Benrhouma, Hanene, additional, Ben Younes, Thouraya, additional, Zifarelli, Giovanni, additional, Pagnamenta, Alistair T, additional, Bauer, Peter, additional, Khundadze, Mukhran, additional, Mirecki, Andrea, additional, Kamel, Sara Mahmoud, additional, Elmonem, Mohamed A, additional, Ghayoor Karimiani, Ehsan, additional, Jamshidi, Yalda, additional, Offiah, Amaka C, additional, Rossor, Alexander M, additional, Youssef-Turki, Ilhem Ben, additional, Hübner, Christian A, additional, Munot, Pinki, additional, Reilly, Mary M, additional, Brown, André E X, additional, Nagy, Sara, additional, and Houlden, Henry, additional

Published
2024
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40. Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

Author

Record, Christopher J, primary, Pipis, Menelaos, additional, Skorupinska, Mariola, additional, Blake, Julian, additional, Poh, Roy, additional, Polke, James M, additional, Eggleton, Kelly, additional, Nanji, Tina, additional, Zuchner, Stephan, additional, Cortese, Andrea, additional, Houlden, Henry, additional, Rossor, Alexander M, additional, Laura, Matilde, additional, and Reilly, Mary M, additional

Published
2024
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43. Nerve biopsy in T-cell lymphoma with neurolymphomatosis: where and when

Author

Pipis, Menelaos, primary, Jaunmuktane, Zane, additional, Marafioti, Teresa, additional, Brandner, Sebastian, additional, Smith, Elaine C, additional, D'Sa, Shirley, additional, Lunn, Michael P, additional, Cwynarski, Kate, additional, Fialho, Doreen, additional, Shah, Sachit, additional, Fuller, Geraint N, additional, and Reilly, Mary M, additional

Published
2024
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44. Digenic FLNA and UCHL1 variants resulting in a complex phenotype

Author

Pernice, Helena F., primary, O'Donnell, Luke F., additional, Rossor, Alexander M., additional, Laura, Matilde, additional, Record, Christopher J., additional, Skorupinska, Mariola, additional, Blake, Julian, additional, Poh, Roy, additional, Polke, James, additional, and Reilly, Mary M., additional

Published
2024
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46. Association of common genetic variants with chronic axonal polyneuropathy in the general population: a genome-wide association study.

Author

Taams, Noor E., Knol, Maria J., Hanewinckel, Rens, Drenthen, Judith, Reilly, Mary M., van Doorn, Pieter A., Adams, Hieab H. H., and Ikram, M. Arfan

Subjects
POLYNEUROPATHIES, GENOME-wide association studies, GENETIC variation, RECESSIVE genes, DISEASE susceptibility
Abstract

Introduction: Disease susceptibility of chronic axonal polyneuropathy is not fully explained by clinical risk factors. Therefore, we determined the contribution of common genetic variants in chronic axonal polyneuropathy in the general population. Methods: This study was performed in two population-based studies. Polyneuropathy diagnosis was based on screening in the Rotterdam Study and on ICD-10 codes in the UK Biobank. We determined the heritability of the sural nerve amplitude and performed genome-wide association studies of chronic axonal polyneuropathy and sural sensory nerve amplitude. Furthermore, we zoomed in on variants in and surrounding 100 autosomal genes known to cause polyneuropathy based on literature and expert knowledge (candidate genes), and we performed a gene-based analysis. Analyses were adjusted for age, sex and population stratification. Results: Chronic axonal polyneuropathy was present in 2,357 of the 458,567 participants and 54.3% of the total population was female. Heritability of sural nerve amplitude was 0.49 (p = 0.067) (N = 1,153). No variants (p < 5.0×10-8) or genes (p < 2.7×10-6) reached genome-wide significance for its association with polyneuropathy. Focusing on variants in and surrounding the candidate genes in the GWAS (p < 3.9×10-6) and on these genes in the gene-based analysis (p < 5.0×10-4) neither yielded significant results. Discussion: We did not find common variants associated with chronic axonal polyneuropathy in the general population. Larger studies are needed to determine if genetic susceptibility based on both common and rare genetic variants affect the risk for chronic axonal polyneuropathy in the general population. [ABSTRACT FROM AUTHOR]

Published
2024
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