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Archives of Neurology|October 10, 2007
Asian origin for the worldwide-spread mutational event in Machado-Joseph diseaseSandra Martins, Francesc Calafell, Claudia Gaspar, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseEppie M Yiu, Paula Bray, Jonathan Baets, et al.American Journal of Human Genetics|August 14, 2012
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvementHiroyuki Ishiura, Wataru Sako, Mari Yoshida, et al.American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, et al.Nature Genetics|May 3, 2011
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing lossChristopher J Klein, Maria-Victoria Botuyan, Yanhong Wu, et al.Molecular Neurodegeneration|September 10, 2020
Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutationsAnna Konopka, Donna R Whelan, Md Shafi Jamali, et al.Brain : a Journal of Neurology|April 4, 2017
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathyPei-Chien Tsai, Bing-Wen Soong, Inès Mademan, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 7, 2019
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 miceEmily P McCann, Jennifer A Fifita, Natalie Grima, et al.Human Molecular Genetics|March 29, 2012
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisJulien Couthouis, Michael P Hart, Renske Erion, et al.Cell Reports|October 28, 2020
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease GeneticsAlfredo Iacoangeli, Tian Lin, Ahmad Al Khleifat, et al.Pageof 10