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Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.
Nakamura R, Tohnai G, Nakatochi M, Atsuta N, Watanabe H, Ito D, Katsuno M, Hirakawa A, Izumi Y, Morita M, Hirayama T, Kano O, Kanai K, Hattori N, Taniguchi A, Suzuki N, Aoki M, Iwata I, Yabe I, Shibuya K, Kuwabara S, Oda M, Hashimoto R, Aiba I, Ishihara T, Onodera O, Yamashita T, Abe K, Mizoguchi K, Shimizu T, Ikeda Y, Yokota T, Hasegawa K, Tanaka F, Nakashima K, Kaji R, Niwa JI, Doyu M, Terao C, Ikegawa S, Fujimori K, Nakamura S, Ozawa F, Morimoto S, Onodera K, Ito T, Okada Y, Okano H, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group. Nakamura R, et al. Among authors: doyu m. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):816-824. doi: 10.1136/jnnp-2022-330851. Epub 2023 May 4. J Neurol Neurosurg Psychiatry. 2023. PMID: 37142397
Homozygosity for Machado-Joseph disease gene enhances phenotypic severity.
Sobue G, Doyu M, Nakao N, Shimada N, Mitsuma T, Maruyama H, Kawakami S, Nakamura S. Sobue G, et al. Among authors: doyu m. J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):354-6. doi: 10.1136/jnnp.60.3.354-a. J Neurol Neurosurg Psychiatry. 1996. PMID: 8609529 Free PMC article. No abstract available.
Founder effect in spinal and bulbar muscular atrophy (SBMA).
Tanaka F, Doyu M, Ito Y, Matsumoto M, Mitsuma T, Abe K, Aoki M, Itoyama Y, Fischbeck KH, Sobue G. Tanaka F, et al. Among authors: doyu m. Hum Mol Genet. 1996 Sep;5(9):1253-7. doi: 10.1093/hmg/5.9.1253. Hum Mol Genet. 1996. PMID: 8872464
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy.
Tanaka F, Sobue G, Doyu M, Ito Y, Yamamoto M, Shimada N, Yamamoto K, Riku S, Hshizume Y, Mitsuma T. Tanaka F, et al. Among authors: doyu m. J Neurol Sci. 1996 Jan;135(1):43-50. doi: 10.1016/0022-510x(95)00249-2. J Neurol Sci. 1996. PMID: 8926495
124 results