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Annals of Neurology|May 28, 2021
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 VariantTauana Bernardes Leoni, Carelis González-Salazar, Thiago Junqueira R Rezende, et al.Nature Communications|February 19, 2025
Human skeletal muscle fiber heterogeneity beyond myosin heavy chainsRoger Moreno-Justicia, Thibaux Van der Stede, Ben Stocks, et al.Brain : a Journal of Neurology|September 13, 2021
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophyJorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, et al.Eclinicalmedicine|May 21, 2026
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational studyGianpaolo Cicala, Anna Capasso, Marianna Villa, et al.Neurobiology of Aging|September 6, 2016
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisQiang Gang, Conceição Bettencourt, Pedro M Machado, et al.Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.Arquivos De Neuro-Psiquiatria|August 10, 2022
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disordersCristiane Araujo Martins Moreno, Clara Gontijo Camelo, Pedro Henrique Marte de Arruda Sampaio, et al.American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentManuela Wiessner, Andreas Roos, Christopher J Munn, et al.Acta Neuropathologica|July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic cluesValérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.Pageof 16