Ichizo Nishino
National Institute of Neuroscience, National Center of Neurology and Psychiatry
382 papers found
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Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state
Download from www.researchgate.netDanon disease: a phenotypic expression of LAMP-2 deficiency
Download from www.researchgate.netDysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair
Download from dx.doi.orgThe infrastructure for the clinical research of muscular dystrophies: Remudy and MDCTN
Download from www.jstage.jst.go.jpDAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of -dystroglycan
Download from www.researchgate.netNationwide patient registry for GNE myopathy in Japan
Download from dx.doi.orgLeiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Download from www.jci.orgA girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
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