Search Results1-20 of  113

  • Nishino Ichizo ID: 9000326637745

    Articles in CiNii:1

    • Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing : validation analysis of DMD mutations (2016)
  • Nishino Ichizo ID: 9000356596748

    Articles in CiNii:1

    • TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy (2017)
  • Nishino Ichizo ID: 9000356664791

    Articles in CiNii:1

    • A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome (2017)
  • Nishino Ichizo ID: 9000389001951

    Articles in CiNii:1

    • Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia (2018)
  • M.D. Ph.D. Nishino Ichizo ID: 9000409862223

    Department of Neurology, National Center of Neurology and Psychiatry (2020 from CiNii)

    Articles in CiNii:1

    • A case of Emery-Dreifuss muscular dystrophy with slight joint contracture (2020)
  • M.D. Ph.D. Nishino Ichizo ID: 9000411370407

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) (2021 from CiNii)

    Articles in CiNii:1

    • A case of colchicine myopathy in which the long-term use of colchicine hampered the recovery (2021)
  • M.D. Ph.D. Nishino Ichizo ID: 9000412158426

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) (2021 from CiNii)

    Articles in CiNii:1

    • A case of anti-Th/To antibody-positive systemic sclerosis with muscle symptoms and interstitial pneumonia (2021)
  • M.D. Ph.D. Nishino Ichizo ID: 9000412158502

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) (2021 from CiNii)

    Articles in CiNii:1

    • Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report (2021)
  • M.D. Ph.D. Nishino Ichizo ID: 9000412158508

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2021 from CiNii)

    Articles in CiNii:1

    • A case of dermatomyositis positive for anti-nuclear matrix protein 2 antibody without dermatologic symptoms (2021)
  • M.D. Ph.D. Nishino Ichizo ID: 9000412420722

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2021 from CiNii)

    Articles in CiNii:1

    • A Japanese family with <i>POMT2</i>-related limb girdle muscular dystrophy (2021)
  • NISHINO ICHIZO ID: 9000001760414

    National Center of Neurology and Psychiatry (2006 from CiNii)

    Articles in CiNii:1

    • Expression of Myoferlin in Skeletal Muscles of Patients with Dysferlinopathy (2006)
  • NISHINO ICHIZO ID: 9000014168879

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2008 from CiNii)

    Articles in CiNii:1

    • Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation (2008)
  • NISHINO ICHIZO ID: 9000018243247

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) (2009 from CiNii)

    Articles in CiNii:1

    • Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47 (2009)
  • NISHINO Ichizo ID: 1000000332388

    Articles in CiNii:50

    • Two Sibling Patients with Non-Fukuyama Type Congenital Muscular Dystrophy with Low Serum Selenium Levels -Therapeutic Effects of Oral Selenium Administration- (2000)
    • X-linked Recessive Myotubular Myopathy with a Splice-Site Mutation in the Myotubularin Gene (1998)
    • 心筋症とミオパチー (2001)
  • NISHINO Ichizo ID: 9000001669250

    Department of Neuromuscular disorders, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2005 from CiNii)

    Articles in CiNii:1

    • Early onset distal muscular dystrophy with normal dysferlin expression (2005)
  • NISHINO Ichizo ID: 9000001774076

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2006 from CiNii)

    Articles in CiNii:1

    • Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia (2006)
  • NISHINO Ichizo ID: 9000002060363

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2006 from CiNii)

    Articles in CiNii:1

    • Distal myopathy with rimmed vacuoles in a case of opercular syndrome (2006)
  • NISHINO Ichizo ID: 9000002060960

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2006 from CiNii)

    Articles in CiNii:1

    • A case of congenital neuromuscular disease with uniform type 1 fibers (2006)
  • NISHINO Ichizo ID: 9000006861001

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2009 from CiNii)

    Articles in CiNii:10

    • The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy (2002)
    • Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle (2003)
    • Subcellular Localization of Fukutin and Fukutin-Related Protein in Muscle Cells (2004)
  • NISHINO Ichizo ID: 9000006884754

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (2009 from CiNii)

    Articles in CiNii:1

    • Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy (2009)
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