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Archives of Neurology|December 17, 2003
Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosisCollette K Hand, Rebecca S Devon, Francois Gros-Louis, et al.
Human Molecular Genetics|June 21, 2008
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3Adèle Salin-Cantegrel, Masoud Shekarabi, Sébastien Holbert, et al.
American Journal of Medical Genetics. Part A|December 23, 2024
Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' ManagementAlexa McAdam, Yoko A Ito, Marilyn Richard, et al.
Scientific Reports|August 17, 2018
A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1Helene Catoire, Faezeh Sarayloo, Karim Mourabit Amari, et al.
Plos One|November 15, 2019
Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expressionFaezeh Sarayloo, Alexandre Dionne-Laporte, Helene Catoire, et al.
Brain : a Journal of Neurology|February 16, 2013
C9orf72 repeat expansions are a rare genetic cause of parkinsonismSuzanne Lesage, Isabelle Le Ber, Christel Condroyer, et al.
Frontiers in Genetics|August 28, 2020
Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential TremorCalwing Liao, Faezeh Sarayloo, Veikko Vuokila, et al.
Human Molecular Genetics|December 5, 2009
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivoEdor Kabashi, Li Lin, Miranda L Tradewell, et al.
The Journal of Biological Chemistry|June 2, 2011
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosumAdèle Salin-Cantegrel, Jean-Baptiste Rivière, Masoud Shekarabi, et al.
The Journal of Clinical Investigation|June 4, 2008
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type IIMasoud Shekarabi, Nathalie Girard, Jean-Baptiste Rivière, et al.
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