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European Journal of Neurology|June 1, 2021
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective studyFabien Hauw, Guillaume Fargeot, David Adams, et al.Journal of Neuropathology and Experimental Neurology|August 23, 2013
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disordersEdoardo Malfatti, Montse Olivé, Ana Lía Taratuto, et al.Brain : a Journal of Neurology|December 20, 2021
Motor neuron pathology in CANVAS due to RFC1 expansionsVincent Huin, Giulia Coarelli, Clément Guemy, et al.Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.Journal of Neurology|January 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspectsJohanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, et al.Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.Journal of Neuropathology and Experimental Neurology|September 9, 2021
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy PatientsSilvia Torelli, Domenic Scaglioni, Valentina Sardone, et al.Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.Brain : a Journal of Neurology|April 19, 2016
High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibodyYves Allenbach, Jeremy Keraen, Anne-Marie Bouvier, et al.Human Genetics|May 14, 2020
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)Elena J Tucker, Rocio Rius, Sylvie Jaillard, et al.Pageof 25