Ichizo Nishino
National Institute of Neuroscience, National Center of Neurology and Psychiatry
381 papers found
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Download from doi.orgDeep convolutional neural network-based algorithm for muscle biopsy diagnosis
UploadBiallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
UploadLight‐chain amyloid myopathy isolated to skeletal muscles: A case report
Download from onlinelibrary.wiley.comADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features
UploadHomozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
UploadCharacteristic findings of skeletal muscle MRI in caveolinopathies
UploadMulticenter questionnaire survey for sporadic inclusion body myositis in Japan
Download from dx.doi.orgBiallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy
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