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Cerebellum (London, England)|September 10, 2013
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?Andrea Poretti, Martin Häusler, Arpad von Moers, et al.Annals of Neurology|November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiencySacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.Neurology|February 4, 2014
Factors affecting cognitive outcome in early pediatric strokeMartina Studer, Eugen Boltshauser, Andrea Capone Mori, et al.Plos One|October 31, 2019
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglionMarissa Z McMackin, Blythe Durbin-Johnson, Marek Napierala, et al.American Journal of Human Genetics|July 11, 2006
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al.Cerebellum (London, England)|April 25, 2012
Macrocerebellum: significance and pathogenic considerationsAndrea Poretti, Volker Mall, Martin Smitka, et al.Brain Communications|August 23, 2021
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndromeLaura Powell, Eric Olinger, Sarah Wedderburn, et al.The Journal of Clinical Investigation|June 3, 2011
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsClaudia Dafinger, Max Christoph Liebau, Solaf Mohamed Elsayed, et al.American Journal of Human Genetics|October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organsMarjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.Pageof 26