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Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.European Journal of Neurology|July 13, 2021
Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south ChinaYongzhi Xie, Zhiqiang Lin, Lei Liu, et al.Brain : a Journal of Neurology|June 15, 2015
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathiesDana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Biallelic variants in <i>COX18</i> cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.American Journal of Human Genetics|September 6, 2014
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyDavid N Herrmann, Rita Horvath, Janet E Sowden, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent <i>de-novo gain-of-function</i> mutation in <i>SPTLC2</i> confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosisMaike F Dohrn, Danique Beijer, Museer A Lone, et al.Stem Cell Research|June 29, 2026
Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.Brain : a Journal of Neurology|February 5, 2026
Diagnostic yield of genome sequencing in children with progressive movement disordersLuca Schierbaum, Enrique Gonzalez Saez-Diez, Amy Tam, et al.American Journal of Human Genetics|September 16, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationNatalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, et al.Brain : a Journal of Neurology|February 1, 2017
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, et al.Pageof 15