Research Topics
Species | Yoshihisa TakiyamaSummaryAffiliation: Jichi Medical School Country: Japan Publications
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Detail Information
Publications
Autosomal recessive spastic ataxia of Charlevoix-SaguenayYoshihisa Takiyama
Division of Neurology, Department of Internal Medicine, Jichi Medical School, Tochigi, Japan
Neuropathology 26:368-75. 2006..Hereafter, as more SACS mutations are identified, the clinical spectrum of the "sacsinopathies" could expand...
Sacsinopathies: sacsin-related ataxiaYoshihisa Takiyama
Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
Cerebellum 6:353-9. 2007..As more SACS mutations are identified worldwide, the clinical spectrum of 'sacsinopathies' will expand, and a finer genotype-phenotype correlation study will become possible and shed light on the molecular mechanism underlying ARSACS...
A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophyMichito Namekawa
Department of Neurology, Jichi Medical University, 3311 1, Yakushiji, Shimotsuke, Tochigi, 329 0498, Japan
Neurol Sci 33:1389-92. 2012....- Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literatureMichito Namekawa
Department of Neurology, Jichi Medical University, Tochigi, Japan
BMC Neurol 10:21. 2010..Following the identification of heterozygous mutations in GFAP that cause this disease, cases of adult-onset ALX have been increasingly reported... - An unusual case of a spasticity-lacking phenotype with a novel SACS mutationHaruo Shimazaki
Division of Neurology, Department of Internal Medicine, Jichi Medical University, Yakushiji 3311 1, Shimotsuke, Tochigi 329 0498, Japan
J Neurol Sci 255:87-9. 2007..5988-9 del CT) of the SACS gene, but the genotype was different from that in our first family of this phenotype. A further genotype-phenotype correlation study is required to clarify the molecular mechanism underlying 'sacsinopathies'... - A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic studyHaruo Shimazaki
Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
Arch Iran Med 11:459-62. 2008..Although all patients showed cerebellar ataxia, each patient exhibited peripheral neuropathy or spasticity indicating intrafamilial phenotypic variability... - Identification of GFAP gene mutation in hereditary adult-onset Alexander's diseaseMichito Namekawa
Department of Neurology, Jichi Medical School, Tochigi 329 0498, Japan
Ann Neurol 52:779-85. 2002.... - [A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG]Mihoko Nagata
Department of Neurology, Jichi Medical School, 3311-1 Yakushiji, Minamikawachi, Tochigi 329-0498, Japan
No To Shinkei 56:885-9. 2004..Further investigations would be required to elucidate the molecular mechanisms of this late onset neurodegeneraion... - A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-SaguenayJeroen Breckpot
Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
Eur J Hum Genet 16:1050-4. 2008..This finding confirms the contribution of aCGH to gene identification in autosomal recessive disorders... - Novel compound heterozygous mutations in sacsin-related ataxiaYoichi Yamamoto
Department of Neurology D4, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
J Neurol Sci 239:101-4. 2005..The authors report here identical twin sisters with novel compound heterozygous mutations (c.[2951_2952delAG]+[3922delT]) in the SACS gene... - Temporal bone histopathological and quantitative analysis of mitochondrial DNA in MELASKatsumasa Takahashi
Department of Otolarynology, Gunma University, Maebashi, Japan
Laryngoscope 113:1362-8. 2003..CONCLUSION: Dysfunction of the stria vascularis and spiral ganglion cells causes sensorineural hearing loss in MELAS... - Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?Kate Craig
Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Eur J Hum Genet 16:841-7. 2008..Polymorphic variation in this region may explain the high-risk haplotype found in SCA6 families... - [An autopsy case of origin-unidentified meningeal carcinomatosis presenting with monoradiculopathy multiplex in the lower extremities]Takehisa Ishikawa
Department of Neurology, Jichi Medical School
Rinsho Shinkeigaku 45:32-7. 2005.... - Sacsin-related ataxia caused by the novel nonsense mutation Arg4325XYoichi Yamamoto
J Neurol 253:1372-3. 2006 - Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in JapanMingshun Li
Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan
J Hum Genet 48:111-8. 2003..8-Mb region, spanning markers GGAA05 and D16S3095. We present here a newly refined critical interval of 16q-ADCA type III/SCA4. Data of 11 new DNA markers on 16q22.1 would also be useful for other research of genes mapped to this region... - A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignanciesKeita Kirito
Haematologica 93:155-6. 2008..Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene...