Ichizo Nishino
National Institute of Neuroscience, National Center of Neurology and Psychiatry
384 papers found
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Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47
Download from www.researchgate.netNovel FHL1 mutations in fatal and benign reducing body myopathy
Download from www.researchgate.netChapter 19 Monitoring Autophagy in Muscle Diseases
Download from www.researchgate.netLate-onset sarcoglycanopathy: a cause of repeated muscle cramps after exertion
Download from www.jstage.jst.go.jpDevelopment of therapy for distal myopathy with rimmed vacuoles
Download from www.jstage.jst.go.jpClinical and genetic analysis of lipid storage myopathies
Download from www.researchgate.netDistal Myopathy in Multi-minicore Disease
Download from dx.doi.orgRigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
Download from www.researchgate.netFukuyama congenital muscular dystrophy and related α- dystroglycanopathies
Download from www.researchgate.netRecent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: Treatment perspectives
Download from www.researchgate.netA novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
Download from www.ncbi.nlm.nih.govDiminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
Download from www.researchgate.netDistal lipid storage myopathy due to PNPLA2 mutation
Download from www.researchgate.netLysosomal myopathies: An excessive build-up in autophagosomes is too much to handle
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