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Page 1
Spastic paraparesis and mutations in the prion protein gene.
Yamada M, Satoh S, Sodeyama N, Fujigasaki H, Kaneko K, Wada Y, Itoh Y, Matsushita M. Yamada M, et al. Among authors: fujigasaki h. J Neurol Sci. 1995 Dec;134(1-2):215-6. doi: 10.1016/0022-510x(95)00250-4. J Neurol Sci. 1995. PMID: 8747872 No abstract available.
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.
Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H. Ishikawa K, et al. Among authors: fujigasaki h. Am J Hum Genet. 2005 Aug;77(2):280-96. doi: 10.1086/432518. Epub 2005 Jul 6. Am J Hum Genet. 2005. PMID: 16001362 Free PMC article.
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.
Sekine SI, Kaneko M, Tanaka M, Ninomiya Y, Kurita H, Inden M, Yamada M, Hayashi Y, Inuzuka T, Mitsui J, Ishiura H, Iwata A, Fujigasaki H, Tamaki H, Tamaki R, Kito S, Taguchi Y, Tanaka K, Atsuta N, Sobue G, Kondo T, Inoue H, Tsuji S, Hozumi I. Sekine SI, et al. Among authors: fujigasaki h. Sci Rep. 2019 Apr 5;9(1):5698. doi: 10.1038/s41598-019-42115-y. Sci Rep. 2019. PMID: 30952898 Free PMC article.
A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.
Takahashi H, Ishikawa K, Tsutsumi T, Fujigasaki H, Kawata A, Okiyama R, Fujita T, Yoshizawa K, Yamaguchi S, Tomiyasu H, Yoshii F, Mitani K, Shimizu N, Yamazaki M, Miyamoto T, Orimo T, Shoji S, Kitamura K, Mizusawa H. Takahashi H, et al. Among authors: fujigasaki h. J Hum Genet. 2004;49(5):256-64. doi: 10.1007/s10038-004-0142-7. J Hum Genet. 2004. PMID: 15362569
Spastic tetraplegia as an initial manifestation of familial Alzheimer's disease.
Sodeyama N, Shimada M, Uchihara T, Yanagisawa K, Fujigasaki H, Yamaguchi K, Matsushita M, Yamada M. Sodeyama N, et al. Among authors: fujigasaki h. J Neurol Neurosurg Psychiatry. 1995 Oct;59(4):395-9. doi: 10.1136/jnnp.59.4.395. J Neurol Neurosurg Psychiatry. 1995. PMID: 7561919 Free PMC article.
Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.
Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, Komatsuzaki Y, Toru S, Toriyama H, Watanabe M, Ohkoshi N, Shoji S, Kanazawa I, Tanabe T, Mizusawa H. Ishikawa K, et al. Among authors: fujigasaki h. Hum Mol Genet. 1999 Jul;8(7):1185-93. doi: 10.1093/hmg/8.7.1185. Hum Mol Genet. 1999. PMID: 10369863
54 results