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Four mutations of the spastin gene in Japanese families with spastic paraplegia.
Basri R, Yabe I, Soma H, Takei A, Nishimura H, Machino Y, Kokubo Y, Kosugi M, Okada R, Yukitake M, Tachibana H, Kuroda Y, Kuzuhara S, Sasaki H. Basri R, et al. Among authors: sasaki h. J Hum Genet. 2006;51(8):711-715. doi: 10.1007/s10038-006-0412-7. Epub 2006 Jun 21. J Hum Genet. 2006. PMID: 16788734 Free article.
The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.
Ishiguro T, Ishikawa K, Takahashi M, Obayashi M, Amino T, Sato N, Sakamoto M, Fujigasaki H, Tsuruta F, Dolmetsch R, Arai T, Sasaki H, Nagashima K, Kato T, Yamada M, Takahashi H, Hashizume Y, Mizusawa H. Ishiguro T, et al. Among authors: sasaki h. Acta Neuropathol. 2010 Apr;119(4):447-64. doi: 10.1007/s00401-009-0630-0. Epub 2009 Dec 31. Acta Neuropathol. 2010. PMID: 20043227 Free PMC article.
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. Among authors: sasaki h. 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.
5,860 results