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[Chronic Cough in CANVAS].
Doi H, Tanaka F. Doi H, et al. Brain Nerve. 2022 Nov;74(11):1267-1271. doi: 10.11477/mf.1416202226. Brain Nerve. 2022. PMID: 36343931 Japanese.
Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial.
Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Yabe I, Sasaki H, Aoki M, Morita M, Nakano I, Kanai K, Ito S, Ishikawa K, Mizusawa H, Yamamoto T, Tsuji S, Hasegawa K, Shimohata T, Nishizawa M, Miyajima H, Kanda F, Watanabe Y, Nakashima K, Tsujino A, Yamashita T, Uchino M, Fujimoto Y, Tanaka F, Sobue G; Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) study group. Katsuno M, et al. Lancet Neurol. 2010 Sep;9(9):875-84. doi: 10.1016/S1474-4422(10)70182-4. Epub 2010 Aug 4. Lancet Neurol. 2010. PMID: 20691641 Clinical Trial.
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N. Higashiyama Y, et al. Among authors: doi h. Mov Disord. 2013 Apr;28(4):552-3. doi: 10.1002/mds.25296. Epub 2013 Jan 16. Mov Disord. 2013. PMID: 23325613 No abstract available.
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. 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: doi h. 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. Rinsho Shinkeigaku. 2013;53(11):1026-8. doi: 10.5692/clinicalneurol.53.1026. Rinsho Shinkeigaku. 2013. PMID: 24291868 Review. Japanese.
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K. Doi H, et al. Sci Rep. 2014 Nov 24;4:7132. doi: 10.1038/srep07132. Sci Rep. 2014. PMID: 25417924 Free PMC article.
1,583 results