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Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
Ogasawara M, Eura N, Nagaoka U, Sato T, Arahata H, Hayashi T, Okamoto T, Takahashi Y, Mori-Yoshimura M, Oya Y, Nakamura A, Shimazaki R, Sano T, Kumutpongpanich T, Minami N, Hayashi S, Noguchi S, Iida A, Takao M, Nishino I. Ogasawara M, et al. Among authors: nakamura a. Neuropathol Appl Neurobiol. 2022 Apr;48(3):e12787. doi: 10.1111/nan.12787. Epub 2021 Dec 28. Neuropathol Appl Neurobiol. 2022. PMID: 34927285
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I. Ogasawara M, et al. Among authors: nakamura h, nakamura a. Acta Neuropathol Commun. 2020 Nov 25;8(1):204. doi: 10.1186/s40478-020-01084-4. Acta Neuropathol Commun. 2020. PMID: 33239111 Free PMC article.
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H. Nakamura A, et al. Ann Clin Transl Neurol. 2023 Dec;10(12):2360-2372. doi: 10.1002/acn3.51925. Epub 2023 Oct 26. Ann Clin Transl Neurol. 2023. PMID: 37882106 Free PMC article.
A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy.
Matsumura T, Takada H, Kobayashi M, Nakajima T, Ogata K, Nakamura A, Funato M, Kuru S, Komai K, Futamura N, Adachi Y, Arahata H, Fukudome T, Ishizaki M, Suwazono S, Aoki M, Matsuura T, Takahashi MP, Sunada Y, Hanayama K, Hashimoto H, Nakamura H. Matsumura T, et al. Among authors: nakamura h, nakamura a. Neuromuscul Disord. 2021 Sep;31(9):839-846. doi: 10.1016/j.nmd.2021.04.008. Epub 2021 May 7. Neuromuscul Disord. 2021. PMID: 34462178 Free PMC article.
Exon-skipping therapy for Duchenne muscular dystrophy.
Nakamura A, Takeda S. Nakamura A, et al. Neuropathology. 2009 Aug;29(4):494-501. doi: 10.1111/j.1440-1789.2009.01028.x. Epub 2009 May 22. Neuropathology. 2009. PMID: 19486303 Review.
3,790 results