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Human Molecular Genetics|June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth diseaseHamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.Journal of the American College of Cardiology|January 19, 2026
Cardiovascular Risk Across Myocardial Injury and Infarction Categories Using the Universal Definition: An Individual Patient-Level Data Meta-AnalysisJasper Boeddinghaus, Pedro Lopez-Ayala, Alexander J F Thurston, et al.Acta Neuropathologica|April 4, 2026
Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosisFelix Kleefeld, Joanna Teran Gamboa, Iago Pinal-Fernandez, et al.Brain : a Journal of Neurology|February 19, 2025
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscleSivasankar Malaichamy, Romane Idoux, Kiran Polavarapu, et al.Acta Neuropathologica|May 25, 2022
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositisCorinna Preuße, Barbara Paesler, Christopher Nelke, et al.Journal of Neuromuscular Diseases|November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic reviewBeatrice Labella, Guy Brochier, Maud Beuvin, et al.Brain : a Journal of Neurology|November 18, 2021
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesSemra Hiz Kurul, Yavuz Oktay, Ana Töpf, et al.Brain : a Journal of Neurology|May 10, 2023
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defectsAndreas Roos, Peter F M van der Ven, Hadil Alrohaif, et al.Communications Biology|February 14, 2026
Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathyFrancesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, et al.Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.Pageof 21