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441 results on '"Day, John"'

1. Learning 3D object-centric representation through prediction

Author

Day, John, Arora, Tushar, Liu, Jirui, Li, Li Erran, and Cai, Ming Bo

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Artificial Intelligence, Computer Science - Machine Learning, I.2.10, I.4.8, I.4.6, I.4.10, I.2.6
Abstract

As part of human core knowledge, the representation of objects is the building block of mental representation that supports high-level concepts and symbolic reasoning. While humans develop the ability of perceiving objects situated in 3D environments without supervision, models that learn the same set of abilities with similar constraints faced by human infants are lacking. Towards this end, we developed a novel network architecture that simultaneously learns to 1) segment objects from discrete images, 2) infer their 3D locations, and 3) perceive depth, all while using only information directly available to the brain as training data, namely: sequences of images and self-motion. The core idea is treating objects as latent causes of visual input which the brain uses to make efficient predictions of future scenes. This results in object representations being learned as an essential byproduct of learning to predict., Comment: 21 pages, 11 figures. Project webpage can be found at https://jday54.github.io/opple_site/

Published
2024

2. Succession law

Author

Paul, Susan and Day, John-Luke

Published
2022

4. Planetary Exploration Horizon 2061 Report Chapter 5: Enabling technologies for planetary exploration

Author

Grande, Manuel, Guo, Linli, Blanc, Michel, Makaya, Advenit, Asmar, Sami, Atkinson, David, Bourdon, Anne, Chabert, Pascal, Chien, Steve, Day, John, Fairen, Alberto G., Freeman, Anthony, Genova, Antonio, Herique, Alain, Kofman, Wlodek, Lazio, Joseph, Mousis, Olivier, Ori, Gian Gabriele, Parro, Victor, Preston, Robert, Rodriguez-Manfredi, Jose A, Sterken, Veerle, Stephenson, Keith, Hook, Joshua Vander, Waite, Hunter, and Zine, Sonia

Subjects
Astrophysics - Instrumentation and Methods for Astrophysics, Astrophysics - Earth and Planetary Astrophysics, Physics - Geophysics
Abstract

The main objective of this chapter is to present an overview of the different areas of key technologies that will be needed to fly the technically most challenging of the representative missions identified in chapter 4 (the Pillar 2 Horizon 2061 report). It starts with a description of the future scientific instruments which will address the key questions of Horizon 2061 described in chapter 3 (the Pillar 1 Horizon 2061 report) and the new technologies that the next generations of space instruments will require (section 2). From there, the chapter follows the line of logical development and implementation of a planetary mission: section 3 describes some of the novel mission architectures that will be needed and how they will articulate interplanetary spacecraft and science platforms; section 4 summarizes the system-level technologies needed: power, propulsion, navigation, communication, advanced autonomy on board planetary spacecraft; section 5 describes the diversity of specialized science platforms that will be needed to survive, operate and return scientific data from the extreme environments that future missions will target; section 6 describes the new technology developments that will be needed for long-duration missions and semi-permanent settlements; finally, section 7 attempts to anticipate on the disruptive technologies that should emerge and progressively prevail in the decades to come to meet the long-term needs of future planetary missions., Comment: 100 pages, 23 figures, Horizon 2061 is a science-driven, foresight exercise, for future scientific investigations

Published
2023

5. Histology of the Porous Oculomotorius: Relevance to Anterior Skull Base Approaches

Author

Rennert, Robert C, Goodwill, Vanessa, Steinberg, Jeffrey A, Fukushima, Takanori, Day, John D, Khalessi, Alexander A, and Levy, Michael L

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, oculomotor nerve, cavernous sinus, histology, porous oculomotorius, Clinical Sciences, Neurology & Neurosurgery, Dentistry
Abstract

Objective  Mobilization of cranial nerve III (CNIII) at its dural entry site is commonly described to avoid damage from stretching during approaches to the parasellar, infrachiasmatic, posterior clinoid, and cavernous sinus regions. The histologic relationships of CNIII as it traverses the dura, and the associated surgical implications are nonetheless poorly described. We herein assess the histology of the CNIII-dura interface as it relates to surgical mobilization of the nerve. Methods  A fronto-orbitozygomatic temporopolar approach was performed on six adult cadaveric specimens. The CNIII-dural entry site was resected and histologically processed. The nerve-tissue planes were assessed by a neuropathologist. Results  Histologic analysis demonstrated that CNIII remained separate from the dura within the oculomotor cistern (porous oculomotorius up to the oculomotor foramen). Fusion of the epineurium of CNIII and the connective tissue of the dura was seen at the level of the foramen, with no clear histologic plane identified between these structures. Conclusion  CNIII may be directly mobilized within the oculomotor cistern, while dissections of CNIII distal to the oculomotor foramen should maintain a thin layer of connective tissue on the nerve.

Published
2023

7. Global dataset of soil organic carbon in tidal marshes

Author

Maxwell, Tania L., Rovai, André S., Adame, Maria Fernanda, Adams, Janine B., Álvarez-Rogel, José, Austin, William E. N., Beasy, Kim, Boscutti, Francesco, Böttcher, Michael E., Bouma, Tjeerd J., Bulmer, Richard H., Burden, Annette, Burke, Shannon A., Camacho, Saritta, Chaudhary, Doongar R., Chmura, Gail L., Copertino, Margareth, Cott, Grace M., Craft, Christopher, Day, John, de los Santos, Carmen B., Denis, Lionel, Ding, Weixin, Ellison, Joanna C., Ewers Lewis, Carolyn J., Giani, Luise, Gispert, Maria, Gontharet, Swanne, González-Pérez, José A., González-Alcaraz, M. Nazaret, Gorham, Connor, Graversen, Anna Elizabeth L., Grey, Anthony, Guerra, Roberta, He, Qiang, Holmquist, James R., Jones, Alice R., Juanes, José A., Kelleher, Brian P., Kohfeld, Karen E., Krause-Jensen, Dorte, Lafratta, Anna, Lavery, Paul S., Laws, Edward A., Leiva-Dueñas, Carmen, Loh, Pei Sun, Lovelock, Catherine E., Lundquist, Carolyn J., Macreadie, Peter I., Mazarrasa, Inés, Megonigal, J. Patrick, Neto, Joao M., Nogueira, Juliana, Osland, Michael J., Pagès, Jordi F., Perera, Nipuni, Pfeiffer, Eva-Maria, Pollmann, Thomas, Raw, Jacqueline L., Recio, María, Ruiz-Fernández, Ana Carolina, Russell, Sophie K., Rybczyk, John M., Sammul, Marek, Sanders, Christian, Santos, Rui, Serrano, Oscar, Siewert, Matthias, Smeaton, Craig, Song, Zhaoliang, Trasar-Cepeda, Carmen, Twilley, Robert R., Van de Broek, Marijn, Vitti, Stefano, Antisari, Livia Vittori, Voltz, Baptiste, Wails, Christy N., Ward, Raymond D., Ward, Melissa, Wolfe, Jaxine, Yang, Renmin, Zubrzycki, Sebastian, Landis, Emily, Smart, Lindsey, Spalding, Mark, and Worthington, Thomas A.

Published
2023
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8. Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study

Author

Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K, Mayhew, Anna G, Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E, Feng, Jia, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha‐Goebel, Diana X, Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R, Bushby, Kate, Consortium, The Jain COS, Bourke, John, and Straub, Volker

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Cardiovascular, Heart Disease, Lung, Clinical Research, Electrocardiography, Female, Humans, Longitudinal Studies, Male, Muscular Dystrophies, Limb-Girdle, Phenotype, Jain COS Consortium, Miyoshi myopathy, cardiac, dysferlin, limb girdle muscular dystrophy R2, respiratory, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences
Abstract

Introduction/aimsThere is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.MethodsAs part of the Jain Foundation's International Clinical Outcome Study (COS) for dysferlinopathy, objective measures of respiratory and cardiac function were collected twice, with a 3-y interval between tests, in 188 genetically confirmed patients aged 11-86 y (53% female). Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo).ResultsMean FVC was 90% predicted at baseline, decreasing to 88% at year 3. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by year 3, including ambulant participants. ECGs showed P-wave abnormalities indicative of delayed trans-atrial conduction in 58% of patients at baseline, representing a risk for developing atrial flutter or fibrillation. The prevalence of impaired left ventricular function or hypertrophy was comparable to that in the general population.DiscussionThese results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow-up should include FVC measurement, enquiry about arrhythmia symptoms and peripheral pulse palpation to assess cardiac rhythm. However, periodic specialist cardiac review is probably not warranted unless prompted by symptoms or abnormal pulse findings.

Published
2022

10. Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

Author

Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, and Mercuri, Eugenio

Published
2023
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11. Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

Author

Waldrop, Megan A, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Medne, Livja, Finkel, Richard, Connolly, Anne M, Crawford, Thomas O, Drachman, Daniel, Wein, Nicolas, Habib, Ali A, Krzesniak-Swinarska, Monika A, Zaidman, Craig M, Collins, James J, Jokela, Manu, Udd, Bjarne, Day, John W, Ortiz-Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J, Dunn, Diane M, Weiss, Robert B, and Flanigan, Kevin M

Subjects
Humans, Muscular Dystrophy, Duchenne, Dystrophin, RNA Splice Sites, Mutation, Introns, Becker muscular dystrophy, Duchenne muscular dystrophy, deep intronic, pseudoexon, telescripting, transcription termination, Muscular Dystrophy, Biotechnology, Human Genome, Genetics, Intellectual and Developmental Disabilities (IDD), Duchenne/ Becker Muscular Dystrophy, Brain Disorders, Rare Diseases, Pediatric, Musculoskeletal, Clinical Sciences, Genetics & Heredity
Abstract

DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an important diagnostic step for patients who have negative genomic testing but abnormal dystrophin expression in muscle. In this study, muscle biopsies were evaluated from 19 patients with clinical features of a dystrophinopathy, but negative clinical DMD mutation analysis. Reverse transcription-polymerase chain reaction or high-throughput RNA sequencing methods identified 19 mutations with one of three pathogenic pseudoexon types: deep intronic point mutations, deletions or insertions, and translocations. In association with point mutations creating intronic splice acceptor sites, we observed the first examples of DMD pseudo 3'-terminal exon mutations causing high efficiency transcription termination within introns. This connection between splicing and premature transcription termination is reminiscent of U1 snRNP-mediating telescripting in sustaining RNA polymerase II elongation across large genes, such as DMD. We propose a novel classification of three distinct types of mutations identifiable by muscle RNA analysis, each of which differ in potential treatment approaches. Recognition and appropriate characterization may lead to therapies directed toward full-length dystrophin expression for some patients.

Published
2022

12. Maturation of the internal auditory canal and posterior petrous bone with relevance to lateral and posterolateral skull base approaches.

Author

Rennert, Robert C, Brandel, Michael G, Steinberg, Jeffrey A, Friedman, Rick A, Couldwell, William T, Fukushima, Takanori, Day, John D, Khalessi, Alexander A, and Levy, Michael L

Subjects
Skull Base, Petrous Bone, Semicircular Canals, Humans, Tomography, X-Ray Computed, Adolescent, Adult, Child, Child, Preschool, Infant, Infant, Newborn, Hematology, Rare Diseases, Pediatric
Abstract

Anatomic knowledge of the internal auditory canal (IAC) and surrounding structures is a prerequisite for performing skull base approaches to the IAC. We herein perform a morphometric analysis of the IAC and surgically relevant aspects of the posterior petrous bone during pediatric maturation, a region well-studied in adults but not children. Measurements of IAC length (IAC-L), porus (IAC-D) and midpoint (IAC-DM) diameter, and distance from the porus to the common crus (CC; P-CC) and posterior petrosal surface (PPS) to the posterior semicircular canal (PSC; PPS-PSC) were made on thin-cut axial CT scans from 60 patients (grouped by ages 0-3, 4-7, 8-11 12-15, 16-18, and > 18 years). IAC-L increased 27.5% from 8.7 ± 1.1 at age 0-3 to 11.1 ± 1.1 mm at adulthood (p = 0.001), with the majority of growth occurring by ages 8-11. IAC-D (p = 0.52) and IAC-DM (p = 0.167) did not significantly change from ages 0-3 to adult. P-CC increased 31.1% from 7.7 ± 1.5 at age 0-3 to 10.1 ± 1.5 mm at adulthood (p = 0.019). PPS-PSC increased 160% from 1.5 ± 0.7 at age 0-3 to 3.9 ± 1.2 mm at adulthood (p

Published
2022

14. Long-term efficacy and safety of a treatment strategy for HIV infection using protease inhibitor monotherapy: 8-year routine clinical care follow-up from a randomised, controlled, open-label pragmatic trial (PIVOT)

Author

Fisher, Martin, Clarke, Amanda, Hadley, Wendy, Stacey, David, Johnson, Margaret, Byrne, Pat, Williams, Ian, De Esteban, Nahum, Pellegrino, Pierre, Haddow, Lewis, Arenas-Pinto, Alejandro, Orkin, Chloe, Hand, James, De Souza, Carl, Murthen, Lisa, Crawford-Jones, Andrew, Chen, Fabian, Wilson, Ruth, Green, Elizabeth, Masterson, John, Lee, Vincent, Patel, Kamlesh, Howe, Rebecca, Winston, Alan, Mullaney, Scott, Gompels, Mark, Jennings, Louise, Beeching, Nicholas, Tamaklo, Rebecca, Fox, Julie, Teague, Alistair, Jendrulek, Isabelle, Tiraboschi, Juan Manuel, Wilkins, Ed, Clowes, Yvonne, Thompson, Andrew, Brook, Gary, Trivedi, Manoj, Aderogba, Kazeem, Jones, Martin, DeBurgh-Thomas, Andrew, Jones, Liz, Reeves, Iain, Mguni, Sifiso, Chadwick, David, Spence, Pauline, Nkhoma, Nellie, Warwick, Zoe, Price, Suzanne, Read, Sally, Herieka, Elbushra, Walker, James, Woodward, Ruth, Day, John, Hilton, Laura, Harinda, Veerakathy, Blackman, Helen, Hay, Phillip, Mejewska, Wendy, Okolo, Olanike, Ong, Edmund, Martin, Karen, Munro, Lee, Dockrell, David, Smart, Lynne, Ainsworth, Jonathan, Waters, Anele, Kegg, Stephen, McNamara, Sara, Taylor, Steve, Gilleran, Gerry, Gazzard, Brian, Rowlands, Jane, Allan, Sris, Sandhu, Rumun, O'Farrell, Nigel, Quaid, Sheena, Martin, Fabiola, Bennett, Caroline, Kapembwa, Moses, Minton, Jane, Calderwood, James, Post, Frank, Campbell, Lucy, Wandolo, Emily, Palfreeman, Adrian, Mashonganyika, Linda, Balachandran, Thambiah, Kakowa, Memory, O'Connell, Rebecca, Tanawa, Cheryl, Jebakumar, Sinna, Hagger, Lesley, Quah, Say, McKernan, Sinead, Lacey, Charles, Douglas, Sarah, Russell-Sharpe, Sarah, Brewer, Christine, Leen, Clifford, Morris, Sheila, Obeyesekera, Sharmin, Williams, Shirley, David, Nelson, Roberts, Mark, Wollaston, Julie, Paton, Nicholas, Stöhr, Wolfgang, Scott, Karen, Dunn, David, Beaumont, Emma, Fleck, Sue, Hall, Mark, Hennings, Susie, Kummeling, Ischa, Martins, Sara, Owen-Powell, Ellen, Sanders, Karen, van Hooff, Fionna, Vivas, Livia, White, Ellen, Angus, Brian, Freedman, Andrew, Cromerty, Ben, Mercey, Danielle, Fidler, Sarah, Torok, Estee, Babiker, Abdel, Peto, Tim, Lalloo, David, Phillips, Andrew, James, Robert, Paton, Nicholas I., and Dunn, David T.

Published
2024
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15. Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)

Author

Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, and Mercuri, Eugenio

Published
2023
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16. Increased tissue stiffness triggers contractile dysfunction and telomere shortening in dystrophic cardiomyocytes

Author

Chang, Alex CY, Pardon, Gaspard, Chang, Andrew CH, Wu, Haodi, Ong, Sang-Ging, Eguchi, Asuka, Ancel, Sara, Holbrook, Colin, Ramunas, John, Ribeiro, Alexandre JS, LaGory, Edward L, Wang, Honghui, Koleckar, Kassie, Giaccia, Amato, Mack, David L, Childers, Martin K, Denning, Chris, Day, John W, Wu, Joseph C, Pruitt, Beth L, and Blau, Helen M

Subjects
Biochemistry and Cell Biology, Biological Sciences, Orphan Drug, Pediatric, Muscular Dystrophy, Brain Disorders, Rare Diseases, Duchenne/ Becker Muscular Dystrophy, Cardiovascular, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell, Bioengineering, Intellectual and Developmental Disabilities (IDD), Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Biomarkers, Cardiomyopathies, Cell Differentiation, Cells, Cultured, Cellular Microenvironment, Culture Media, Conditioned, Fibrosis, Fluorescent Antibody Technique, Gene Expression, Humans, Immunophenotyping, Induced Pluripotent Stem Cells, Mechanical Phenomena, Muscular Dystrophies, Muscular Dystrophy, Duchenne, Myocardial Contraction, Myocytes, Cardiac, Telomere Shortening, DMD, dilated cardiomyopathy, fibrosis, hiPSC-CM, telomere, Clinical Sciences, Biochemistry and cell biology
Abstract

Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disease that is associated with severe progressive muscle degeneration culminating in death due to cardiorespiratory failure. We previously observed an unexpected proliferation-independent telomere shortening in cardiomyocytes of a DMD mouse model. Here, we provide mechanistic insights using human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Using traction force microscopy, we show that DMD hiPSC-CMs exhibit deficits in force generation on fibrotic-like bioengineered hydrogels, aberrant calcium handling, and increased reactive oxygen species levels. Furthermore, we observed a progressive post-mitotic telomere shortening in DMD hiPSC-CMs coincident with downregulation of shelterin complex, telomere capping proteins, and activation of the p53 DNA damage response. This telomere shortening is blocked by blebbistatin, which inhibits contraction in DMD cardiomyocytes. Our studies underscore the role of fibrotic stiffening in the etiology of DMD cardiomyopathy. In addition, our data indicate that telomere shortening is progressive, contraction dependent, and mechanosensitive, and suggest points of therapeutic intervention.

Published
2021

20. Co-located ecological data for exploring top- and subsoil carbon dynamics across grassland-woodland contrasts

Author

Reinsch, Sabine, primary, Lebron, Inma, additional, Brentegani, Michele, additional, Brooks, Milo, additional, Busi, Susheel Bhanu, additional, Cagnarini, Claudia, additional, Cooper, David, additional, Day, John, additional, Emmett, Bridget A., additional, Fitos, Eleonora, additional, Goodall, Tim, additional, Griffiths, Robert, additional, Jones, Briony, additional, Keenan, Patrick, additional, Keith, Aidan, additional, Lopes-Mazzetto, Josiane M., additional, Mason, Kelly E., additional, Pallett, Denise, additional, Pereira, M. Glória, additional, Pinder, Adam, additional, Robinson, David A., additional, Smart, Simon M., additional, Thomas, Amy, additional, Benham, Sue, additional, Vanguelova, Elena, additional, and Cosby, Bernhard J., additional

Published
2024
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21. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

McGrattan, Katlyn, primary, Cerchiari, Antonella, additional, Conway, Eleanor, additional, Berti, Beatrice, additional, Finkel, Richard, additional, Muntoni, Francesco, additional, Mercuri, Eugenio, additional, Fanelli, Lavinia, additional, Coratti, Giorgia, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Trucco, Federica, additional, Latini, Sofia, additional, Bertini, Enrico, additional, d'Amico, Adele, additional, Doglio, Luca, additional, Stimpson, Georgia, additional, Baranello, Giovanni, additional, Scoto, Mariacristina, additional, Rohwer, Annemarie, additional, Edel, Lisa, additional, Lofra, Robert Muni, additional, Bettolo, Chiara Marini, additional, Young, Sally Dunaway, additional, Day, John, additional, Duong, Tina, additional, Darras, Basil, additional, Pasternak, Amy, additional, Montes, Jacqueline, additional, Rodriguez-Torres, Ralph, additional, Chiriboga, Claudia A., additional, Hirano, Michio, additional, Civitello, Matthew, additional, Cunningham, Zarazuela Zolkipli, additional, Brandsema, John, additional, Mayer, Hank, additional, Glanzmann, Allan, additional, Karagiannis, Joannis, additional, Baldinetti, Francesca, additional, Khader, Leila, additional, Costa, Patrizia, additional, Lovato, Valeria, additional, and Rastelletti, Irene, additional

Published
2024
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22. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA

Author

Coratti, Giorgia, primary, Civitello, Matthew, additional, Rohwer, Annemarie, additional, Salmin, Francesca, additional, Glanzman, Allan M, additional, Montes, Jaqueline, additional, Pasternak, Amy, additional, De Sanctis, Roberto, additional, Young, Sally Dunaway, additional, Duong, Tina, additional, Mizzoni, Irene, additional, Milev, Evelin, additional, Sframeli, Maria, additional, Morando, Simone, additional, Albamonte, Emilio, additional, D'Amico, Adele, additional, Brolatti, Noemi, additional, Pane, Marika, additional, Scoto, Mariacristina, additional, Messina, Sonia, additional, Hirano, Michio, additional, Zolkipli-Cunningham, Zarazuela, additional, Darras, Basil T, additional, Bertini, Enrico, additional, Bruno, Claudio, additional, Sansone, Valeria A, additional, Day, John, additional, Baranello, Giovanni, additional, Pera, Maria Carmela, additional, Muntoni, Francesco, additional, Finkel, Richard, additional, and Mercuri, Eugenio, additional

Published
2024
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24. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, and Day, John W

Published
2022
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26. Contributors

Author

Alves, Jorge, primary, Ammannito, Eleonora, additional, André, Nicolas, additional, Arrigo, Gabriella, additional, Asmar, Sami, additional, Atkinson, David, additional, Autino, Adriano, additional, Beck, Pierre, additional, Berger, Gilles, additional, Blanc, Michel, additional, Bolton, Scott, additional, Bourdon, Anne, additional, Bousquet, Pierre, additional, Bunce, Emma, additional, Capria, Maria Teresa, additional, Chabert, Pascal, additional, Charnoz, Sébastien, additional, Chide, Baptiste, additional, Chien, Steve, additional, Cinelli, Ilaria, additional, Day, John, additional, Dehant, Véronique, additional, Demory, Brice, additional, Domagal-Goldman, Shawn, additional, Dorn, Caroline, additional, Fairén, Alberto G., additional, Filice, Valerio, additional, Fletcher, Leigh N., additional, Foing, Bernard, additional, Forget, François, additional, Freeman, Anthony, additional, Gaudi, B. Scott, additional, Genova, Antonio, additional, Grande, Manuel, additional, Green, James, additional, Griton, Léa, additional, Guo, Linli, additional, Hammel, Heidi, additional, Heinicke, Christiane, additional, Helled, Ravit, additional, Heng, Kevin, additional, Herique, Alain, additional, Höning, Dennis, additional, Hook, Joshua Vander, additional, Hutzler, Aurore, additional, Imamura, Takeshi, additional, Jackman, Caitriona, additional, Kaspi, Yohai, additional, Kim, Jyeong Ja, additional, Kitzman, Daniel, additional, Kofman, Wlodek, additional, Kokubo, Eiichiro, additional, Korablev, Oleg, additional, Lasue, Jérémie, additional, Lazio, Joseph, additional, Leconte, Jérémy, additional, Lellouch, Emmanuel, additional, Le Sergeant d'Hendecourt, Louis, additional, Lewis, Jonathan, additional, Li, Ming, additional, Mackwell, Steve, additional, Madi, Mohammad, additional, Makaya, Advenit, additional, Mangold, Nicolas, additional, Marty, Bernard, additional, Maurice, Sylvestre, additional, McNutt, Ralph, additional, Michel, Patrick, additional, Morbidelli, Alessandro, additional, Mordasini, Christoph, additional, Mousis, Olivier, additional, Nesvorny, David, additional, Noack, Lena, additional, Onoda, Masami, additional, Opher, Merav, additional, Ori, Gian Gabriele, additional, Owen, James, additional, Paranicas, Chris, additional, Parro, Victor, additional, Perino, Maria Antonietta, additional, Plainaki, Christina, additional, Preston, Robert, additional, Prieto-Ballesteros, Olga, additional, Qin, Liping, additional, Quanz, Sascha, additional, Rauer, Heike, additional, Rodriguez-Manfredi, Jose A., additional, Schmidt, Juergen, additional, Senske, Dave, additional, Snellen, Ignas, additional, Soderlund, Krista M., additional, Sotin, Christophe, additional, Spilker, Linda, additional, Spohn, Tilman, additional, Stephenson, Keith, additional, Sterken, Veerle J., additional, Testi, Leonardo, additional, Tosi, Nicola, additional, Toukaku, Yoshio, additional, Udry, Stéphane, additional, Vandaele, Ann C., additional, Vazan, Allona, additional, Venturini, Julia, additional, Vernazza, Pierre, additional, Waite, J. Hunter, additional, Wambsganss, Joachim, additional, Wedler, Armin, additional, Westall, Frances, additional, Zarka, Philippe, additional, Zine, Sonia, additional, and Zong, Qiugang, additional

Published
2023
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27. Enabling technologies for planetary exploration

Author

Grande, Manuel, primary, Guo, Linli, additional, Blanc, Michel, additional, Alves, Jorge, additional, Makaya, Advenit, additional, Asmar, Sami, additional, Atkinson, David, additional, Bourdon, Anne, additional, Chabert, Pascal, additional, Chien, Steve, additional, Day, John, additional, Fairén, Alberto G., additional, Freeman, Anthony, additional, Genova, Antonio, additional, Herique, Alain, additional, Kofman, Wlodek, additional, Lazio, Joseph, additional, Mousis, Olivier, additional, Ori, Gian Gabriele, additional, Parro, Victor, additional, Preston, Robert, additional, Rodriguez-Manfredi, Jose A., additional, J. Sterken, Veerle, additional, Stephenson, Keith, additional, Hook, Joshua Vander, additional, Waite, J. Hunter, additional, and Zine, Sonia, additional

Published
2023
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28. Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern

Author

Llansó, Laura, Moore, Ursula, Bolano-Diaz, Carla, James, Meredith, Blamire, Andrew M., Carlier, Pierre G., Rufibach, Laura, Gordish-Dressman, Heather, Boyle, Georgina, Hilsden, Heather, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker, and Díaz-Manera, Jordi

Published
2023
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29. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial

Author

Thornton, Charles A, Moxley, Richard Thomas, III, Eichinger, Katy, Heatwole, Chad, Mignon, Laurence, Arnold, W David, Ashizawa, Tetsuo, Day, John W, Dent, Gersham, Tanner, Matthew K, Duong, Tina, Greene, Ericka P, Herbelin, Laura, Johnson, Nicholas E, King, Wendy, Kissel, John T, Leung, Doris G, Lott, Donovan J, Norris, Daniel A, Pucillo, Evan M, Schell, Wendy, Statland, Jeffrey M, Stinson, Nikia, Subramony, Sub H, Xia, Shuting, Bishop, Kathie M, and Bennett, C Frank

Published
2023
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30. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy

Author

Moore, Ursula, Fernández-Simón, Esther, Schiava, Marianela, Cox, Dan, Gordish-Dressman, Heather, James, Meredith K., Mayhew, Anna, Wilson, Ian, Guglieri, Michela, Rufibach, Laura, Blamire, Andrew, Carlier, Pierre G., Mori-Yoshimura, Madoka, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Diaz-Manera, Jordi, and Straub, Volker

Published
2023
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33. Introduction

Author

Day, John W., Hunter, Rachael G., Clark, H. C., Day, J. W., editor, Hunter, R. G., editor, and Clark, H. C., editor

Published
2022
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37. Recursive InterNetwork Architecture, Investigating RINA as an Alternative to TCP/IP (IRATI)

Author

Grasa, Eduard, primary, Bergesio, Leonardo, additional, Tarzan, Miquel, additional, Trouva, Eleni, additional, Gaston, Bernat, additional, Salvestrini, Francesco, additional, Maffione, Vincenzo, additional, Carrozzo, Gino, additional, Staessens, Dimitri, additional, Vrijders, Sander, additional, Colle, Didier, additional, Chappel, Adam, additional, Day, John, additional, and Chitkushev, Lou, additional

Published
2022
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38. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Volpe, Joseph J, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Gerber, Marianne, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Joniau, Inge, Accou, Geraldine, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Fornazieri Darcie, Ana Letícia, Machado, Cleide, Kiyoko Oyamada, Maria, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Hu, Chaoping, Zhu, Xiaomei, Qian, Chen, Shen, Li, Li, Hui, Shi, Yiyun, Zhou, Shuizhen, Xiao, Ying, Zhou, Zhenxuan, Wang, Sujuan, Sang, Tian, Wei, Cuijie, Dong, Hui, Cao, Yiwen, Wen, Jing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Tomas, Josipa, Boespflug-Tanguy, Odile, De Lucia, Silvana, Seferian, Andrea, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Grange, Allison, Trang Nguyen, Diem, Milascevic, Darko, Tachibana, Shotaro, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pedemonte, Marina, Priolo, Enrico, Sposetti, Lorenza, Comi, Giacomo Pietro, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Leone, Daniela, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Takeshima, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Gomi, Fumi, Morimatsu, Takanobu, Furukawa, Toru, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Artemyeva, Svetlana, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Litvinova, Elena, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Sari, Seher, Bilgin, Neslihan, Karaduman, Aynur Ayse, Sarikaya, Fatma Gokcem Yildiz, Graham, Robert J, Ghosh, Partha, Casavant, David, Levine, Alexis, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Baglieri, Anna Maria, Dias, Courtney, Maczek, Elizabeth, Pasternak, Amy, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Published
2022
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40. Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility

Author

Harding, Elizabeth R., primary, Kanner, Cara H., additional, Pasternak, Amy, additional, Glanzman, Allan M., additional, Dunaway Young, Sally, additional, Rao, Ashwini K., additional, McDermott, Michael P., additional, Zolkipli-Cunningham, Zarazuela, additional, Day, John W., additional, Finkel, Richard S., additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, and Montes, Jacqueline, additional

Published
2024
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45. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Author

Coratti, Giorgia, Carmela Pera, Maria, Montes, Jacqueline, Scoto, Mariacristina, Pasternak, Amy, Bovis, Francesca, Sframeli, Maria, D'Amico, Adele, Pane, Marika, Albamonte, Emilio, Antonaci, Laura, Lia Frongia, Anna, Mizzoni, Irene, Sansone, Valeria A, Russo, Massimo, Bruno, Claudio, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M, Duong, Tina, de Sanctis, Roberto, Stacy Mazzone, Elena, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Darras, Basil T, Bertini, Enrico, Day, John, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S, and Mercuri, Eugenio

Published
2022
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47. Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology.

Author

Alix, James J. P., Plesia, Maria, Dudgeon, Alexander P., Kendall, Catherine A., Hewamadduma, Channa, Hadjivassiliou, Marios, Gorman, Gráinne S., Taylor, Robert W., McDermott, Christopher J., Shaw, Pamela J., Mead, Richard J., and Day, John C.

Subjects
CHEMICAL fingerprinting, PROTEIN structure, RAMAN spectroscopy, DUCHENNE muscular dystrophy, NEUROMUSCULAR diseases, AMYOTROPHIC lateral sclerosis, HUMAN fingerprints
Abstract

Neuromuscular disorders are a group of conditions that can result in weakness of skeletal muscles. Examples include fatal diseases such as amyotrophic lateral sclerosis and conditions associated with high morbidity such as myopathies (muscle diseases). Many of these disorders are known to have abnormal protein folding and protein aggregates. Thus, easy to apply methods for the detection of such changes may prove useful diagnostic biomarkers. Raman spectroscopy has shown early promise in the detection of muscle pathology in neuromuscular disorders and is well suited to characterising the conformational profiles relating to protein secondary structure. In this work, we assess if Raman spectroscopy can detect differences in protein structure in muscle in the setting of neuromuscular disease. We utilise in vivo Raman spectroscopy measurements from preclinical models of amyotrophic lateral sclerosis and the myopathy Duchenne muscular dystrophy, together with ex vivo measurements of human muscle samples from individuals with and without myopathy. Using quantitative conformation profiling and matrix factorisation we demonstrate that quantitative 'conformational fingerprinting' can be used to identify changes in protein folding in muscle. Notably, myopathic conditions in both preclinical models and human samples manifested a significant reduction in α-helix structures, with concomitant increases in β-sheet and, to a lesser extent, nonregular configurations. Spectral patterns derived through non-negative matrix factorisation were able to identify myopathy with a high accuracy (79% in mouse, 78% in human tissue). This work demonstrates the potential of conformational fingerprinting as an interpretable biomarker for neuromuscular disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author

Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, and Schoser, Benedikt

Published
2021
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