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Developmental Medicine and Child Neurology|October 30, 2009
Outcome of severe unilateral cerebellar hypoplasiaAndrea Poretti, Catherine Limperopoulos, Eliane Roulet-Perez, et al.Brain : a Journal of Neurology|July 24, 2019
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosisJulien H Park, Christiane Elpers, Janine Reunert, et al.Developmental Medicine and Child Neurology|June 25, 2010
Cerebral sinus venous thrombosis in Swiss childrenSebastian Grunt, Kevin Wingeier, Edith Wehrli, et al.Cerebellum (London, England)|August 6, 2013
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13S H Subramony, Joel Advincula, Susan Perlman, et al.Brain Communications|June 7, 2024
Long non-coding RNA TUG1 is downregulated in Friedreich's ataxiaMert Koka, Hui Li, Rumana Akther, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2015
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresJessica X Chong, Joon-Ho Yu, Peter Lorentzen, et al.The Biochemical Journal|October 8, 2009
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartiaElsa Wiame, Donatienne Tyteca, Nathalie Pierrot, et al.Pediatrics|April 22, 2015
Incidence and outcomes of symptomatic neonatal arterial ischemic strokeSebastian Grunt, Lea Mazenauer, Sarah E Buerki, et al.Journal of the Neurological Sciences|January 23, 2017
Cardiac transplantation in Friedreich Ataxia: Extended follow-upAshley McCormick, Julianna Shinnick, Kim Schadt, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 23, 2005
Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypesMatthias Maschke, Gary Oehlert, Ting-Dong Xie, et al.Pageof 26