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344 results

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Page 1
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
Hobara T, Higuchi Y, Yoshida M, Suehara M, Ando M, Yuan JH, Yoshimura A, Kojima F, Matsuura E, Okamoto Y, Mitsui J, Tsuji S, Takashima H. Hobara T, et al. Among authors: matsuura e. Acta Neuropathol Commun. 2024 Aug 23;12(1):136. doi: 10.1186/s40478-024-01847-3. Acta Neuropathol Commun. 2024. PMID: 39180105 Free PMC article.
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M, Higuchi Y, Okamoto Y, Yuan J, Yoshimura A, Takei J, Taniguchi T, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Matsuura E, Nakagawa H, Sonoda K, Yamashita T, Tamura A, Terasawa H, Mitsui J, Ishiura H, Tsuji S, Takashima H. Ando M, et al. Among authors: matsuura e. J Hum Genet. 2022 Jul;67(7):399-403. doi: 10.1038/s10038-022-01019-y. Epub 2022 Jan 28. J Hum Genet. 2022. PMID: 35091664
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
Hiramatsu Y, Okamoto Y, Yoshimura A, Yuan JH, Ando M, Higuchi Y, Hashiguchi A, Matsuura E, Nozaki F, Kumada T, Murayama K, Suzuki M, Yamamoto Y, Matsui N, Miyazaki Y, Yamaguchi M, Suzuki Y, Mitsui J, Ishiura H, Tanaka M, Morishita S, Nishino I, Tsuji S, Takashima H. Hiramatsu Y, et al. Among authors: matsuura e. J Neurol. 2022 Aug;269(8):4129-4140. doi: 10.1007/s00415-022-11026-w. Epub 2022 Mar 2. J Neurol. 2022. PMID: 35235001 Free PMC article.
Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan.
Ando M, Higuchi Y, Yuan JH, Yoshimura A, Higashi S, Takeuchi M, Hobara T, Kojima F, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Nagai M, Takashima H. Ando M, et al. Among authors: matsuura e. Front Neurol. 2022 Aug 10;13:952493. doi: 10.3389/fneur.2022.952493. eCollection 2022. Front Neurol. 2022. PMID: 36034314 Free PMC article.
Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Kojima F, Yamanishi Y, Aso Y, Izumi K, Imada M, Maki Y, Nakagawa H, Hobara T, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H. Ando M, et al. Among authors: matsuura e. Ann Clin Transl Neurol. 2024 Jan;11(1):96-104. doi: 10.1002/acn3.51936. Epub 2023 Nov 2. Ann Clin Transl Neurol. 2024. PMID: 37916889 Free PMC article.
344 results