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Brain : a Journal of Neurology|February 27, 2018
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegiaTimothy Newton, Rachel Allison, James R Edgar, et al.European Journal of Neurology|December 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variantsManon Degoutin, Chloé Angelini, Claire Bar, et al.Neurology|August 8, 2014
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disordersSerena Lattante, Stéphanie Millecamps, Giovanni Stevanin, et al.Neurobiology of Aging|July 19, 2017
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysisElisa Teyssou, Laura Chartier, Maria-Del-Mar Amador, et al.Plos Genetics|August 2, 2018
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelinationAmandine Duchesne, Anne Vaiman, Magali Frah, et al.Plos One|October 17, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsMustafa A Salih, Emeline Mundwiller, Arif O Khan, et al.American Journal of Human Genetics|January 22, 2013
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie Martin, Rebecca Schüle, Katrien Smets, et al.Journal of Neurology|August 14, 2023
White matter abnormalities in 15 subjects with SPG76Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, et al.European Journal of Human Genetics : EJHG|January 20, 2012
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsStephan Klebe, Alexander Lossos, Hamid Azzedine, et al.Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.Pageof 19