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908 results

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Page 1
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: takashima h. 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.
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: takashima h. 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: takashima h. Front Neurol. 2022 Aug 10;13:952493. doi: 10.3389/fneur.2022.952493. eCollection 2022. Front Neurol. 2022. PMID: 36034314 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: takashima h. 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: takashima h. 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.
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: takashima h. 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.
Peripheral neuropathy in a case with CADASIL: a case report.
Sakiyama Y, Matsuura E, Maki Y, Yoshimura A, Ando M, Nomura M, Shinohara K, Saigo R, Nakamura T, Hashiguchi A, Takashima H. Sakiyama Y, et al. Among authors: takashima h. BMC Neurol. 2018 Aug 31;18(1):134. doi: 10.1186/s12883-018-1131-3. BMC Neurol. 2018. PMID: 30170552 Free PMC article.
908 results