Yoshihisa Takiyama

Summary

Publications

  1. 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
  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. 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
  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. 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
  7. 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
  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

Collaborators

  • Michito Namekawa
  • Yoshio Tsuboi
  • Shoji Tsuji
  • Mariko Y Momoi
  • Haruo Shimazaki
  • Imaharu Nakano
  • Junko Honda
  • Kumi Sakoe
  • Masayuki Baba
  • Jun Tsugawa
  • Chieko Suzuki
  • Jun Goto
  • Yuichi Matsushima
  • Yuji Takahashi
  • Hiroyuki Ishiura
  • Chika Sakai
  • Tametou Naoi
  • Hideyuki Hatakeyama
  • Yu ichi Goto
  • Yoko Fukuda
  • Mohhamad Hassan Heidari
  • Fatemeh Aghakhani-Moghadam
  • Reza Vazifehmand
  • Hamid Reza Khorram-Khorshid
  • Yi Ouyang
  • Shamsodin Hejazi
  • Sassan Saber
  • Kenji Niijima

Detail Information

Publications8

  1. 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...
  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. 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'...
  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. 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...
  7. 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...
  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...