Ichizo Nishino
National Institute of Neuroscience, National Center of Neurology and Psychiatry
392 papers found
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Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating
Download from doi.orgHeterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Download from doi.orgDeep convolutional neural network-based algorithm for muscle biopsy diagnosis
Download from www.nature.comBiallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
UploadA novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
Download from www.nature.comLight‐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
UploadMutations in the J domain of DNAJB6 cause dominant distal myopathy
UploadThigh muscle MRI findings in myopathy associated with anti‐mitochondrial antibody
Download from api.wiley.comCharacteristic findings of skeletal muscle MRI in caveolinopathies
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