Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
2016 · Journal of Human Genetics · 104 citations
https://doi.org/10.1038/jhg.2016.7
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Narihiro Minami
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Narihiro Minami is an academic researcher from National Center of Neurology and Psychiatry. The author has contributed to research in topics: Muscle Physiology and Disorders & Genetic Neurodegenerative Diseases & Pharmacogenetics and Drug Metabolism. The author has an h-index of 27, co-authored 75 publications.
Papers by this author
worksRecent duplication of the two human CD8 beta-chain genes
1992 · The Journal of Immunology · 26 citations
https://doi.org/10.4049/jimmunol.148.6.1919
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
2022 · Acta Neuropathologica Communications · 18 citations
https://doi.org/10.1186/s40478-022-01482-w
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy
2025 · Orphanet Journal of Rare Diseases · 2 citations
https://doi.org/10.1186/s13023-024-03521-2
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