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Neurology. Genetics|June 14, 2019
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypesChong Sun, Jie Song, Yanjun Jiang, et al.Lancet (London, England)|April 24, 2026
Efficacy and safety of cemdisiran siRNA in myasthenia gravis (NIMBLE): a double-blind, randomised, placebo-controlled, phase 3 trialTuan Vu, Ali A Habib, Saiju Jacob, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.Journal of Inherited Metabolic Disease|September 3, 2024
High-risk screening for late-onset Pompe disease in China: An expanded multicenter studyKexin Jiao, Bochen Zhu, Xueli Chang, et al.Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.Journal of Cachexia, Sarcopenia and Muscle|April 25, 2025
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRIJose Verdu-Diaz, Carla Bolano-Díaz, Alejandro Gonzalez-Chamorro, 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.Pageof 11