An unusual case of a spasticity-lacking phenotype with a novel SACS mutationSHIMAZAKI, Haruo; SAKOE, Kumi; NIIJIMA, Kenji et al.Journal of the neurological sciences. 2007, Vol 255, Num 1-2, pp 87-89, issn 0022-510X, 3 p.Article

Active vasodilation by sympathetic outflow to limb skin in a patient with progressive aphasiaSHINDO, Kazumasa; KOBAYASHI, Fumikazu; MIWA, Michiaki et al.Neuroreport (Oxford). 2014, Vol 25, Num 5, pp 303-306, issn 0959-4965, 4 p.Article

Novel compound heterozygous mutations in sacsin-related ataxiaYAMAMOTO, Yoichi; HIRAOKA, Kotaro; ARAKI, Mutsuko et al.Journal of the neurological sciences. 2005, Vol 239, Num 1, pp 101-104, issn 0022-510X, 4 p.Article

A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignanciesKIRITO, Keita; SAKOE, Kumi; SHINODA, Daisuke et al.Haematologica (Roma). 2008, Vol 93, Num 1, pp 155-156, issn 0390-6078, 2 p.Article

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe : founder effect or predisposing chromosome?CRAIG, Kate; TAKIYAMA, Yoshihisa; SOONG, Bing-Wen et al.European journal of human genetics. 2008, Vol 16, Num 7, pp 841-847, issn 1018-4813, 7 p.Article

Identification of GFAP gene mutation in hereditary adult-onset Alexander's diseaseNAMEKAWA, Michito; TAKIYAMA, Yoshihisa; MATSUBARA, Yoichi et al.Annals of neurology. 2002, Vol 52, Num 6, pp 779-785, issn 0364-5134, 7 p.Article

A Large Family with Spinocerebellar Ataxia Type 6 in Iran : A Clinical and Genetic StudySHIMAZAKI, Haruo; VAZIFEHMAND, Reza; TAKIYAMA, Yoshihisa et al.Archives of Iranian medicine. 2008, Vol 11, Num 4, pp 459-462, 4 p.Article

A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic studyNAMEKAWA, Michito; TAKIYAMA, Yoshihisa; SAKOE, Kumi et al.Journal of the neurological sciences. 2001, Vol 185, Num 1, pp 63-68, issn 0022-510XArticle

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily geneDATE, Hidetoshi; ONODERA, Osamu; SAKAI, Tetsuo et al.Nature genetics. 2001, Vol 29, Num 2, pp 184-188, issn 1061-4036Article

Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-SaguenayHAGS, Rie; MIKI, Yasuo; TAKIYAMA, Yoshihisa et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2012, Vol 114, Num 6, pp 746-747, issn 0303-8467, 2 p.Article

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)SHIMAZAKI, Haruo; TAKIYAMA, Yoshihisa; FUKUDA, Yoko et al.Journal of medical genetics. 2012, Vol 49, Num 12, pp 777-784, issn 0022-2593, 8 p.Article

Choreiform movements in spinocerebellar ataxia type 1NAMEKAWA, Michito; TAKIYAMA, Yoshihisa; ANDO, Yoshihito et al.Journal of the neurological sciences. 2001, Vol 187, Num 1-2, pp 103-106, issn 0022-510XArticle

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 familiesSHIMAZAKI, Haruo; TAKIYAMA, Yoshihisa; SAKOE, Kumi et al.Journal of the neurological sciences. 2001, Vol 185, Num 2, pp 101-107, issn 0022-510XArticle

Spinocerebellar ataxia type 1 in china molecular analysis and genotype-phenotype correlation in 5 familiesZHOU, Yong-Xing; QIAO, Wen-Hui; DENG, Chu-Xia et al.Archives of neurology (Chicago). 2001, Vol 58, Num 5, pp 789-794, issn 0003-9942Article

A novel genomic disorder : a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix-SaguenayBRECKPOT, Jeroen; TAKIYAMA, Yoshihisa; THIENPONT, Bernard et al.European journal of human genetics. 2008, Vol 16, Num 9, pp 1050-1054, issn 1018-4813, 5 p.Article

Temporal bone histopathological and quantitative analysis of mitochondrial DNA in MELASTAKAHASHI, Katsumasa; MERCHANT, Saumil N; NAKANO, Imaharu et al.The Laryngoscope. 2003, Vol 113, Num 8, pp 1362-1368, issn 0023-852X, 7 p.Conference Paper

Expanded polyglutamine stretches interact with TAF_II130, interfering with CREB-dependent transcriptionSHIMOHATA, Takayoshi; NAKAJIMA, Toshihiro; ISHIGURO, Hiroshi et al.Nature genetics. 2000, Vol 26, Num 1, pp 29-36, issn 1061-4036Article