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327 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: kojima f. 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.
Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Kojima F, Noguchi Y, Hobara T, Takeuchi M, Takei J, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Okamoto Y, Mitsui J, Ishiura H, Tsuji S, Takashima H. Ando M, et al. Among authors: kojima f. Biomedicines. 2022 Jun 29;10(7):1546. doi: 10.3390/biomedicines10071546. Biomedicines. 2022. PMID: 35884855 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: kojima f. 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: kojima f. 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.
Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.
Ando M, Higuchi Y, Yuan JH, Yoshimura A, Dozono M, Hobara T, Kojima F, Noguchi Y, Takeuchi M, Takei J, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Sone J, Takashima H. Ando M, et al. Among authors: kojima f. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):622-630. doi: 10.1136/jnnp-2022-330769. Epub 2023 Mar 22. J Neurol Neurosurg Psychiatry. 2023. PMID: 36948577
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Higuchi Y, Ando M, Kojima F, Yuan J, Hashiguchi A, Yoshimura A, Hiramatsu Y, Nozuma S, Fukumura S, Yahikozawa H, Abe E, Toyoshima I, Sugawara M, Okamoto Y, Matsuura E, Takashima H. Higuchi Y, et al. Among authors: kojima f. J Neurol. 2024 Jan;271(1):419-430. doi: 10.1007/s00415-023-11998-3. Epub 2023 Sep 26. J Neurol. 2024. PMID: 37750949 Free PMC article.
Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.
Hobara T, Ando M, Higuchi Y, Yuan JH, Yoshimura A, Kojima F, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Nakamura T, Adachi T, Toyooka K, Yamashita T, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H. Hobara T, et al. Among authors: kojima f. J Neurol Neurosurg Psychiatry. 2024 Jul 16:jnnp-2024-333403. doi: 10.1136/jnnp-2024-333403. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39013564 Free article.
PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.
Daida K, Nishioka K, Li Y, Yoshino H, Shimada T, Dougu N, Nakatsuji Y, Ohara S, Hashimoto T, Okiyama R, Yokochi F, Suzuki C, Tomiyama M, Kimura K, Ueda N, Tanaka F, Yamada H, Fujioka S, Tsuboi Y, Uozumi T, Takei T, Matsuzaki S, Shibasaki M, Kashihara K, Kurisaki R, Yamashita T, Fujita N, Hirata Y, Ii Y, Wada C, Eura N, Sugie K, Higuchi Y, Kojima F, Imai H, Noda K, Shimo Y, Funayama M, Hattori N. Daida K, et al. Among authors: kojima f. Neurobiol Aging. 2021 Jan;97:147.e1-147.e9. doi: 10.1016/j.neurobiolaging.2020.07.004. Epub 2020 Jul 13. Neurobiol Aging. 2021. PMID: 32771225
327 results