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Association of biallelic RFC1 expansion with early-onset Parkinson's disease.
Ylikotila P, Sipilä J, Alapirtti T, Ahmasalo R, Koshimizu E, Miyatake S, Hurme-Niiranen A, Siitonen A, Doi H, Tanaka F, Matsumoto N, Majamaa K, Kytövuori L. Ylikotila P, et al. Among authors: tanaka f. Eur J Neurol. 2023 May;30(5):1256-1261. doi: 10.1111/ene.15717. Epub 2023 Feb 12. Eur J Neurol. 2023. PMID: 36705320
[The genetics of corticobasal syndrome].
Doi H, Tanaka F. Doi H, et al. Among authors: tanaka f. Brain Nerve. 2013 Jan;65(1):19-30. Brain Nerve. 2013. PMID: 23300100 Review. Japanese.
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N. Doi H, et al. Among authors: tanaka f. Intern Med. 2013;52(14):1629-33. doi: 10.2169/internalmedicine.52.0252. Epub 2013 Jul 15. Intern Med. 2013. PMID: 23857099 Free article.
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H. Ohba C, et al. Among authors: tanaka f. Neurogenetics. 2013 Nov;14(3-4):225-32. doi: 10.1007/s10048-013-0375-8. Epub 2013 Oct 4. Neurogenetics. 2013. PMID: 24091540
[Genetic background of corticobasal syndrome].
Doi H, Tanaka F. Doi H, et al. Among authors: tanaka f. Rinsho Shinkeigaku. 2013;53(11):1026-8. doi: 10.5692/clinicalneurol.53.1026. Rinsho Shinkeigaku. 2013. PMID: 24291868 Review. Japanese.
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H. Ohba C, et al. Among authors: tanaka f. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2. Epilepsia. 2014. PMID: 24888894 Free article.
1,666 results