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Neuromuscular Disorders cover

Neuromuscular Disorders

IF2.8
Papers209
Citations6305
Journal Papers 189
Publication Date
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Muscle MRI features in a patient Chorea Acanthocytosis
deleteNeuromuscular Disorders
IF2.8
delete2026-06-27
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PREAI
deleteDaniele Orsucci; Marco Vista; Gianluca Moscato; Alessandra Tessa; Filippo Maria Santorelli; Martina Giuntini
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Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients
deleteNeuromuscular Disorders
IF2.8
delete2026-06-23
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PREAI
deleteSolène Conrad; Claire Toquet; Mélanie Fradin; Karim Wahbi; Karima Ghorab; Anne-Sophie Leborgne; Nadir Benbrik; Yann Péréon; Armelle Magot; Julie Perrier-Boeswillwald; Sabine Pattier; Jean-Noël Trochu; Vincent Probst; Richard Dorent; Aleksandra Nadaj-Pakleza; Helge Amthor; Susana Quijano-Roy; Mireille Cossée; Sylvie Tuffery-Giraud; Denis Duboc
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Clinical studies in 82 individuals with valosin-containing protein (VCP) associated multisystem proteinopathy and literature review
deleteNeuromuscular Disorders
IF2.8
delete2026-06-17
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PREAI
deleteCandela Romano; Leepakshi Johar; Keira Hundhausen; Virginia Kimonis
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Systematic Review of Outcome Measures in Facioscapulohumeral Dystrophy (FSHD): Validated, Usable, and Feasible Tools for Assessing Function, Performance, and Strength
deleteNeuromuscular Disorders
IF2.8
delete2026-06-11
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PREAI
deleteChanna Hewamadduma; Jon Street; Charlotte Massey; Christopher J. McDermott; Emma Weatherley; Nicol C. Voermans; Jeff Statland; Benedikt Schoser
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Baseline characterisation of adults living with Spinal Muscular Atrophy in the UK: Insight from the Adult SMA REACH Real-World Data Collection Study
deleteNeuromuscular Disorders
IF2.8
delete2026-06-09
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deleteElena Karkkainen; Jess Page; Sonia Segovia; Laura Simms; Jose Verdu-Diaz; Aleks Carver; Jassi Michell-Sodhi; Stephanie Tanner; Dionne Moat; Robert Muni Lofra; Chiara Marini-Bettolo
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A Portrait of Facioscapulohumeral muscular dystrophy Through History: Past Milestones and Future Challenges on the Road to Understanding and Treatment
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IF2.8
delete2026-06-07
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PREAI
deleteAnna Greco; George W. Padberg; Kees van de Graaf; Michelle Mellion; Silvère M. van der Maarel; Lucienne Ronco; Baziel G.M. van Engelen
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Longitudinal functional trajectories in Duchenne muscular dystrophy: outcome-specific patterns from a registry-based modelling study
deleteNeuromuscular Disorders
IF2.8
delete2026-06-05
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PREAI
deleteAndrea Hörnö-Reissner; Francesca Mattei; Ilaria Zito; Fernanda De Angelis; Philip Broser
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HACD1-related congenital myopathy skeletal muscle MRI findings in a Brazilian cohort
deleteNeuromuscular Disorders
IF2.8
delete2026-06-05
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PREAI
deleteAldrin Pedroza Martins; Alexandre Motta Mecê; Cristina Iwabe; Felipe Moreschi; Luis Fernando Grossklaus; Sérgio SJ Dertkigil; Alberto Rolim Muro Martinez; Anamarli Nucci; Marcondes C. França
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Visual Mapping of Muscle MRI Fatty Replacement Patterns in Genetic Myopathies Using Dimensionality Reduction
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IF2.8
delete2026-06-03
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deleteBenjamin Pizarro-Galleguillos; José Verdú-Díaz; David Gómez-Andrés; Felipe Tobar; Cristian Montalba; Marcelo Andia; Jordi Díaz-Manera; Jorge Díaz Jara; Jorge A. Bevilacqua
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A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2
deleteNeuromuscular Disorders
IF2.8
delete2026-05-25
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deleteJustyna Paprocka; Adrianna Ściślicka; Dominika Bieczek; Laurent Servais
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Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium study
deleteNeuromuscular Disorders
IF2.8
delete2026-05-23
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deleteHunn, Stephanie M.; Findlay, Andrew R.; Alfano, Lindsay N.; Jones, Aileen; Butler, Amanda; Lowes, Linda P.; Iammarino, Megan A.; Reash, Natalie F.; Pietruszewski, Lindsay; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M.; Strahler, Talia; Will, Robert; Wicklund, Matthew; Dixon, Stacy; Augsburger, Renee; Mozaffar, Tahseen; Laubscher, Katie M.; Mockler, Shelley R. H.; Mathews, Katherine D.; Stinson, Nikia; Leung, Doris G.; Stark, Molly M.; Horton, Rebecca A.; Kang, Peter B.; James, Meredith K.; Clause, Amanda; Weihl, Conrad C.; Johnson, Nicholas E.
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Relevance of anti-Ku antibodies in Ku-positive myositis with a necrotizing myopathy–like phenotype: a pediatric case report
deleteNeuromuscular Disorders
IF2.8
delete2026-05-22
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PREAI
deleteTakamasa Saito; Tomonari Shigemura; Ai Yamanaka; Mamami Yabe; Ichizo Nishino; Yozo Nakazawa
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Sensory Abnormalities and Entrapment Neuropathies Identified by Nerve Conduction Studies in Patients with Amyotrophic Lateral Sclerosis
deleteNeuromuscular Disorders
IF2.8
delete2026-05-22
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PREAI
deleteŞule Deveci; Zeliha Matur; Safiye Serra Erzurumluoğlu
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Quantitative Whole-Body MRI in FSHD: Assessing Systemic Involvement and Future Directions
deleteNeuromuscular Disorders
IF2.8
delete2026-05-22
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deleteSeth D. Friedman; Doris Leung; Lara Riem; Olivia DuCharme; Kathryn Eve Costanzo; Emma Weatherley; Allison N. McCrady; Anna Faino; Leo Wang; Dennis W.W. Shaw; George Shaw; Jeff Statland; Silvia S. Blemker
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Predictors of functional disability in nitrous oxideinduced myeloneuropathy: an observational study
deleteNeuromuscular Disorders
IF2.8
delete2026-05-19
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deleteIgnacio Lopera-Rodríguez; Alicia Silva-Cátedra; Alexandra Rincón-Valencia; Lucía García-Granados; Javier Ciriero-Macías; Elena Guijarro-Albaladejo; Carlota Villar-Rodríguez; Jorge Román-Rueda; Josefina Andrada-Moreno; Antonio Cristóbal Luque-Ambrosiani; Joaquín Arzalluz-Luque; Francisco Javier Gómez-Fernández; Carmen Paradas
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A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy
deleteNeuromuscular Disorders
IF2.8
delete2026-05-05
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deleteA. Dupic; T. Evangelista; B. Labella; P. Gaignard; PH. Becker; H. Turmel; M. Konyukh; M. Masingue
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Phenotypic characterization of dominantly inherited distal nebulin myopathy
deleteNeuromuscular Disorders
IF2.8
delete2026-05-01
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deleteHenning, Franclo; Naidu, Kireshnee; Thomas, Pearl; Schoeman, Mardelle; Zaharie, Dan; Patel, Krutik; Dominik, Natalia; Efthymiou, Stephanie; Wilson, Lindsay A.; Hanna, Michael G.; Straub, Volker; Sagath, Lydia; Lehtokari, Vilma-Lotta
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Framing childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials
deleteNeuromuscular Disorders
IF2.8
delete2026-05-01
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deleteDijkstra, Jildou N.; Erasmus, Corrie E.; Laurian, Pierre; Roets, Ally; Dodd, Matthew; Irving, Kathryn; Moreno, Cristiane Araujo Martins; Woodcock, Ian R.; Voermans, Nicol C.; Willis, Tracey; Mathews, Katherine; de Valle, Katy
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Swallowing assessment in Spinal Muscular Atrophy Type 1: a real-world study of dysphagia in children receiving disease-modifying therapies
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IF2.8
delete2026-04-30
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deleteSofia Gandolfi; Claudia Dosi; Maria Teresa Arnoldi; Simona Bertoli; Alessandro Campari; Ramona De Amicis; Anna Mandelli; Chiara Mastella; Eleonora Minacapilli; Stefano Parravicini; Maria Rosa Scopelliti; Riccardo Zanin; Antonio Schindler; Riccardo Masson
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Bridging Past and Future: The Evolution of Genetic Diagnosis in FSHD and the Role of Emerging Technologies in a Globalized Framework
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IF2.8
delete2026-04-15
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deleteClaudia Strafella; Hannes Erdmann; Jorge Alfredo Bevilacqua; Enzo Ricci; Gina Ravenscroft; Tsuyoshi Matsumura; Venugopalan Y. Vishnu; Rasha El Sherif; Piraye Oflazer; Domenico Muratori; Fabio Figueiredo; Valeria Sansone; Sabrina Sacconi; Giulia Ricci; Massimiliano Filosto; Tersinha Evangelista; Alberto Luis Rosa; Alexandra Belayew; Angela Abicht; Frederique Magdinier
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