Yoshihisa Takiyama

Summary

Affiliation: Jichi Medical School
Country: Japan

Publications

  1. ncbi request reprint Autosomal recessive spastic ataxia of Charlevoix-Saguenay
    Yoshihisa Takiyama
    Division of Neurology, Department of Internal Medicine, Jichi Medical School, Tochigi, Japan
    Neuropathology 26:368-75. 2006
  2. pmc A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy
    Michito Namekawa
    Department of Neurology, Jichi Medical University, 3311 1, Yakushiji, Shimotsuke, Tochigi, 329 0498, Japan
    Neurol Sci 33:1389-92. 2012
  3. doi request reprint A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
    Haruo Shimazaki
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
    J Med Genet 49:777-84. 2012
  4. doi request reprint Sacsinopathies: sacsin-related ataxia
    Yoshihisa Takiyama
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
    Cerebellum 6:353-9. 2007
  5. doi request reprint Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS
    Haruo Shimazaki
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
    J Neuroimaging 23:82-5. 2013
  6. ncbi request reprint An unusual case of a spasticity-lacking phenotype with a novel SACS mutation
    Haruo 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
  7. pmc Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature
    Michito Namekawa
    Department of Neurology, Jichi Medical University, Tochigi, Japan
    BMC Neurol 10:21. 2010
  8. doi request reprint A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study
    Haruo Shimazaki
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
    Arch Iran Med 11:459-62. 2008
  9. ncbi request reprint Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease
    Michito Namekawa
    Department of Neurology, Jichi Medical School, Tochigi 329 0498, Japan
    Ann Neurol 52:779-85. 2002
  10. ncbi request reprint [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

Collaborators

  • Michito Namekawa
  • Shoji Tsuji
  • Yoshio Tsuboi
  • Mariko Y Momoi
  • Yoko Matsuzaki
  • Hiroaki Miyajima
  • I Nakano
  • Patrick F Chinnery
  • Kinya Ishikawa
  • Haruo Shimazaki
  • Kumi Sakoe
  • Junko Honda
  • Yoichi Yamamoto
  • Keita Kirito
  • Jeroen Breckpot
  • Kate Craig
  • Jun Goto
  • Seiichi Nagano
  • Takehisa Ishikawa
  • Mihoko Nagata
  • Mingshun Li
  • Katsumasa Takahashi
  • Masayuki Baba
  • Jun Tsugawa
  • Chieko Suzuki
  • Tametou Naoi
  • Hideyuki Hatakeyama
  • Yuichi Matsushima
  • Yu ichi Goto
  • Yoko Fukuda
  • Yuji Takahashi
  • Hiroyuki Ishiura
  • Chika Sakai
  • Joris Robert Vermeesch
  • Steven Van Vooren
  • Bernard Thienpont
  • Bing Wen Soong
  • Koenraad Devriendt
  • Laura B Jardim
  • Mohhamad Hassan Heidari
  • Daisuke Shinoda
  • Yi Ouyang
  • Hirofumi Maruyama
  • Fatemeh Aghakhani-Moghadam
  • Shamsodin Hejazi
  • Hiroyuki Morino
  • Reza Vazifehmand
  • Sassan Saber
  • Maria Luiza Saraiva-Pereira
  • Els Ortibus
  • Hamid Reza Khorram-Khorshid
  • Norio Komatsu
  • Hideshi Kawakami
  • Kenneth Kaushansky
  • Kieren Lythgow
  • Kenji Niijima
  • Saburo Sakoda
  • Masayuki Nakamori
  • Kuni Konaka
  • Mutsuko Araki
  • Toshirou Kawai
  • Mitsuya Morita
  • Mikio Sawada
  • Kotaro Hiraoka
  • Sabro Sakoda
  • Toshikazu Yamaguchi
  • Hiroko Kouda
  • Ichiro Kanazawa
  • Tsutomu Someya
  • Yukiko Iino
  • Tetsuo Miyazawa
  • Tatsushi Toda
  • Saumil N Merchant
  • Ken Kitamura
  • Hidehiro Mizusawa
  • Hiroyuki Tomimitsu
  • Issei Imoto
  • Ken Saito
  • Johji Inazawa
  • Hidenao Sasaki
  • Minoru Takashima
  • Yuya Tamagawa
  • Shuta Toru
  • Philip Boyer
  • Michael J McKenna

Detail Information

Publications18

  1. ncbi request reprint Autosomal recessive spastic ataxia of Charlevoix-Saguenay
    Yoshihisa 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...
  2. pmc A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy
    Michito Namekawa
    Department of Neurology, Jichi Medical University, 3311 1, Yakushiji, Shimotsuke, Tochigi, 329 0498, Japan
    Neurol Sci 33:1389-92. 2012
    ....
  3. doi request reprint A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
    Haruo Shimazaki
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
    J Med Genet 49:777-84. 2012
    ..The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with optic atrophy and neuropathy...
  4. doi request reprint Sacsinopathies: sacsin-related ataxia
    Yoshihisa 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...
  5. doi request reprint Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS
    Haruo Shimazaki
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan
    J Neuroimaging 23:82-5. 2013
    ..We attempted to clarify the characteristics of the brain MRI findings in ARSACS cases...
  6. ncbi request reprint An unusual case of a spasticity-lacking phenotype with a novel SACS mutation
    Haruo 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'...
  7. pmc Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature
    Michito 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...
  8. doi request reprint A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study
    Haruo 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...
  9. ncbi request reprint Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease
    Michito Namekawa
    Department of Neurology, Jichi Medical School, Tochigi 329 0498, Japan
    Ann Neurol 52:779-85. 2002
    ....
  10. ncbi request reprint [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...
  11. ncbi request reprint Novel compound heterozygous mutations in sacsin-related ataxia
    Yoichi 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...
  12. doi request reprint A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay
    Jeroen 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...
  13. ncbi request reprint Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan
    Mingshun 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...
  14. doi request reprint 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...
  15. doi request reprint A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies
    Keita 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...
  16. ncbi request reprint Temporal bone histopathological and quantitative analysis of mitochondrial DNA in MELAS
    Katsumasa Takahashi
    Department of Otolarynology, Gunma University, Maebashi, Japan
    Laryngoscope 113:1362-8. 2003
    ..The purpose of the study was to report the otopathological findings from two patients with MELAS and quantitative mtDNA analysis in the inner ear of one of these patients...
  17. ncbi request reprint Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X
    Yoichi Yamamoto
    J Neurol 253:1372-3. 2006
  18. ncbi request reprint [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
    ....