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Movement Disorders : Official Journal of the Movement Disorder Society|December 30, 2014
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndromeJanel O Johnson, Giovanni Stevanin, Joyce van de Leemput, et al.Annals of Neurology|March 5, 2005
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohortBart P C van de Warrenburg, Harrie Hendriks, Alexandra Dürr, et al.Human Genetics|February 3, 2007
A novel locus for autosomal recessive spastic ataxia on chromosome 17pNaima Bouslam, Ahmed Bouhouche, Ali Benomar, et al.Journal of Neurology|March 9, 2013
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia casesJustyna Jezierska, Giovanni Stevanin, Hiroyuki Watanabe, et al.BMC Neurology|February 19, 2021
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case reportAshraf Yahia, Zhefan Stephen Chen, Ammar E Ahmed, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 30, 2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindredsPeter Bauer, Giovanni Stevanin, Christian Beetz, et al.Human Molecular Genetics|December 24, 2016
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylationJulie Lavie, Román Serrat, Nadège Bellance, et al.Brain : a Journal of Neurology|June 22, 2002
Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein contentJunko Takahashi, Hiroto Fujigasaki, Cecilia Zander, et al.Experimental Neurology|May 23, 2022
CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulatorsMichaela Hörner, Janos Groh, Dennis Klein, et al.Archives of Neurology|February 22, 2012
Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and YirrkalaSandra Martins, Bing-Wen Soong, Virginia C N Wong, et al.Pageof 19