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J-GLOBAL ID：201902205302657831   Reference number：19S0386362

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

Author (13)： Aoyagi, Kyota (Department of Biochemistry, Kyorin University School of Medicine) ,  Nagamatsu, Shinya (Department of Biochemistry, Kyorin University School of Medicine) ,  Rossignol, Elsa (CHU Sainte-Justine Research Center) ,  Rossignol, Elsa (Department of Neurosciences, University of Montreal) ,  Rossignol, Elsa (Department of Pediatrics, University of Montreal) ,  Hamdan, Fadi F. (CHU Sainte-Justine Research Center) ,  Michaud, Jacques L. (CHU Sainte-Justine Research Center) ,  Michaud, Jacques L. (Department of Neurosciences, University of Montreal) ,  Michaud, Jacques L. (Department of Pediatrics, University of Montreal) ,  Mulcahy, Ben (Lunenfeld-Tanenbaum Research Institute and Institute of Medical Science, Department of Molecular Genetics, University of Toronto) ,  Xie, Lin (Lunenfeld-Tanenbaum Research Institute and Institute of Medical Science, Department of Molecular Genetics, University of Toronto) ,  Zhen, Mei (Lunenfeld-Tanenbaum Research Institute and Institute of Medical Science, Department of Molecular Genetics, University of Toronto) ,  Rouleau, Guy A. (Montreal Neurological Institute, McGill University)
Material： Human Mutation
Volume： 36  Issue： 8  Page： 753-757  Publication year： 2015 
JST Material Number： SCOPUS  ISSN： 1059-7794  CODEN： HUMUE 
Country of issue： United States (USA)  Language： English (EN)