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Journal of Cachexia, Sarcopenia and Muscle|April 24, 2018
Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophiesPietro Spitali, Kristina Hettne, Roula Tsonaka, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseVeronika Boczonadi, Martin S King, Anthony C Smith, et al.Journal of Neuropathology and Experimental Neurology|November 27, 2025
Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA)Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson, et al.Neurogenetics|August 1, 2021
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patientsKiran Polavarapu, Aradhna Mathur, Aditi Joshi, et al.Nature Communications|October 13, 2025
Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregulation in patient-derived forebrain organoidsLea Zillich, Matteo Gasparotto, Andrea Carlo Rossetti, et al.Brain : a Journal of Neurology|May 10, 2018
JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositisLeandro Ladislau, Xavier Suárez-Calvet, Ségolène Toquet, et al.Brain : a Journal of Neurology|April 7, 2025
Mitochondrial damage is associated with an early immune response in inclusion body myositisFelix Kleefeld, Emily Cross, Daniel Lagos, et al.Brain Pathology (Zurich, Switzerland)|August 15, 2023
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohortJuliane Bremer, Axel Meinhardt, Istvan Katona, et al.Journal of the American College of Cardiology|January 11, 2023
Improving Risk Stratification for Patients With Type 2 Myocardial InfarctionCaelan Taggart, Karla Monterrubio-Gómez, Andreas Roos, et al.Iscience|January 18, 2021
Autosomal recessive variants in <i>TUBGCP2</i> alter the γ-tubulin ring complex leading to neurodevelopmental diseaseSerdal Gungor, Yavuz Oktay, Semra Hiz, et al.Pageof 21