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Journal of Neuromuscular Diseases|November 14, 2022
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European SurveyLynda El-Hassar, Ahmed Amara, Benoit Sanson, et al.Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 12, 2018
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophyAlicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, et al.American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 9, 2018
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trialsJordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.Neurology. Genetics|July 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem ProteinopathyMarianela Schiava, Yolande Parkhurst, Matthew Henderson, et al.Journal of Neurology|August 21, 2023
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosisDiana Esteller, Marianela Schiava, José Verdú-Díaz, et al.Neurology|January 11, 2019
Assessment of disease progression in dysferlinopathy: A 1-year cohort studyUrsula Moore, Marni Jacobs, Meredith K James, et al.Pageof 25