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Yoshihisa Takiyama

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Kazumasa Shindo; Fumikazu Kobayashi; Michiaki Miwa; Takamura Nagasaka; Yoshihisa Takiyama; Zenji Shiozawa
Temporal prolongation of decreased skin blood flow causes cold limbs in Parkinson's disease.
Megumi Fukumoto; Fumikazu Kobayashi; Takamura Nagasaka; Nobuo Yamashiro; Yoshihisa Takiyama
A case of hypokalemic myopathy induced by excessive drinking of a beverage containing green tea extract.
Haruo Shimazaki; Chieko Suzuki; Yoshihisa Takiyama; Yoshio Tsuboi; Jun Tsugawa; Masayuki Baba; Junko Honda; Michito Namekawa; Kumi Sakoe; Imaharu Nakano
Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.

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2013: Kazumasa Shindo; Fumikazu Kobayashi; Michiaki Miwa; Takamura Nagasaka; Yoshihisa Takiyama; Zenji Shiozawa
Temporal prolongation of decreased skin blood flow causes cold limbs in Parkinson's disease.
Journal of neural transmission (Vienna, Austria : 1996) 2013;120(3):445-51.
2013: Megumi Fukumoto; Fumikazu Kobayashi; Takamura Nagasaka; Nobuo Yamashiro; Yoshihisa Takiyama
A case of hypokalemic myopathy induced by excessive drinking of a beverage containing green tea extract.
Rinshō shinkeigaku = Clinical neurology 2013;53(3):239-42.
2013: Haruo Shimazaki; Chieko Suzuki; Yoshihisa Takiyama; Yoshio Tsuboi; Jun Tsugawa; Masayuki Baba; Junko Honda; Michito Namekawa; Kumi Sakoe; Imaharu Nakano
Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.
Journal of neuroimaging : official journal of the American Society of Neuroimaging 2013;23(1):82-5.
2012: Haruo Shimazaki; Yuji Takahashi; Yoshihisa Takiyama; Shoji Tsuji; Yoko Fukuda; Jun Goto; Yu-ichi Goto; Hideyuki Hatakeyama; Junko Honda; Hiroyuki Ishiura; Yuichi Matsushima; Imaharu Nakano; Michito Namekawa; Tametou Naoi; Chika Sakai; Kumi Sakoe
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
Journal of medical genetics 2012;49(12):777-84.
2012: Michito Namekawa; Tametou Naoi; Kumi Sakoe; Haruo Shimazaki; Yoshihisa Takiyama; Takanori Yamagata; Junko Honda; Mariko Y Momoi; Imaharu Nakano
A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2012;33(6):1389-92.
2010: Michito Namekawa; Yoshihisa Takiyama; Junko Honda; Haruo Shimazaki; Kumi Sakoe; Imaharu Nakano
Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.
BMC neurology 2010;10():21.
2008: Haruo Shimazaki; Reza Vazifehmand; Mohhamad-Hassan Heidari; Hamid-Reza Khorram-Khorshid; Sassan Saber; Shamsodin Hejazi; Fatemeh Aghakhani-Moghadam; Y Ouyang; Junko Honda; Imaharu Nakano; Yoshihisa Takiyama
A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study.
Archives of Iranian medicine 2008;11(4):459-62.
2008: Y Ouyang; K Segers; O Bouquiaux; F C Wang; N Janin; Cécile Andris; Haruo Shimazaki; Kumi Sakoe; Imaharu Nakano; Yoshihisa Takiyama
Novel SACS mutation in a Belgian family with sacsin-related ataxia.
Journal of the neurological sciences 2008;264(1-2):73-6.
2008: KEITA KIRITO; Kumi Sakoe; Daisuke Shinoda; Yoshihisa Takiyama; Kenneth Kaushansky; Norio Komatsu
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.
Haematologica 2008;93(1):155-6.
2007: Haruo Shimazaki; Kumi Sakoe; Kenji Niijima; Imaharu Nakano; Yoshihisa Takiyama
An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.
Journal of the neurological sciences 2007;255(1-2):87-9.
2007: Yoshihisa Takiyama
Sacsinopathies: sacsin-related ataxia.
Cerebellum (London, England) 2007;6(4):353-9.
2006: Yoichi Yamamoto; Masayuki Nakamori; Kuni Konaka; Seiichi Nagano; Haruo Shimazaki; Yoshihisa Takiyama; Saburo Sakoda
Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.
Journal of neurology 2006;253(10):1372-3.
2006: Y Ouyang; Kumi Sakoe; Haruo Shimazaki; Michito Namekawa; T Ogawa; Y Ando; T Kawakami; J Kaneko; Y Hasegawa; K Yoshizawa; T Amino; K Ishikawa; H Mizusawa; Imaharu Nakano; Yoshihisa Takiyama
16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.
Journal of the neurological sciences 2006;247(2):180-6.
2006: Yoshihisa Takiyama
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Neuropathology : official journal of the Japanese Society of Neuropathology 2006;26(4):368-75.
2006: Takehisa Ishikawa; Yumi Fujio; Mitsuya Morita; Yoshihisa Takiyama; Imaharu Nakano
[An adult case of acute cerebellitis after influenza A infection with a cerebellar corical lesion on MRI].
Rinshō shinkeigaku = Clinical neurology 2006;46(7):491-5.
2006: Y Ouyang; Yoshihisa Takiyama; Kumi Sakoe; Haruo Shimazaki; T Ogawa; Seiichi Nagano; Y Yamamoto; Imaharu Nakano
Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
Neurology 2006;66(7):1103-4.
2006: Haruo Shimazaki; Koichi Nakao; Kinya Ishikawa; Yoshihisa Takiyama; Imaharu Nakano
[A case of spinocerebellar ataxia type 6 with its initial symptom of episodic ataxia-like phenotype].
Nō to shinkei = Brain and nerve 2006;58(1):63-7.
2005: Yoichi Yamamoto; Kotaro Hiraoka; Mutsuko Araki; Seiichi Nagano; Haruo Shimazaki; Yoshihisa Takiyama; Saburo Sakoda
Novel compound heterozygous mutations in sacsin-related ataxia.
Journal of the neurological sciences 2005;239(1):101-4.
2005: Haruo Shimazaki; Yoshihisa Takiyama; Kumi Sakoe; Y Ando; Imaharu Nakano
A phenotype without spasticity in sacsin-related ataxia.
Neurology 2005;64(12):2129-31.
2005: Takehisa Ishikawa; Haruo Shimazaki; Mitsuya Morita; Mikio Sawada; Yoshihisa Takiyama; Imaharu Nakano; Toshirou Kawai
[An autopsy case of origin-unidentified meningeal carcinomatosis presenting with monoradiculopathy multiplex in the lower extremities].
Rinshō shinkeigaku = Clinical neurology 2005;45(1):32-7.
2004: Mihoko Nagata; Yoshihisa Takiyama; Haruo Shimazaki; Imaharu Nakano; Hiroaki Miyajima
[A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG].
Nō to shinkei = Brain and nerve 2004;56(10):885-9.
2004: T Ogawa; Yoshihisa Takiyama; Kumi Sakoe; K Mori; Michito Namekawa; Haruo Shimazaki; Imaharu Nakano; Masatoyo Nishizawa
Identification of a SACS gene missense mutation in ARSACS.
Neurology 2004;62(1):107-9.
2002: Michito Namekawa; Yoshihisa Takiyama; Kumi Sakoe; H Nagaki; Haruo Shimazaki; M Yoshimura; Kunihiko Ikeguchi; Imaharu Nakano; Masatoyo Nishizawa
A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity.
Acta neurologica Scandinavica 2002;106(6):387-91.
2002: Michito Namekawa; Yoshihisa Takiyama; Yoko Aoki; Norio Takayashiki; Kumi Sakoe; Haruo Shimazaki; Tomohiro Taguchi; Yasufumi Tanaka; Masatoyo Nishizawa; Ken Saito; Yoichi Matsubara; Imaharu Nakano
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.
Annals of neurology 2002;52(6):779-85.
2002: Haruo Shimazaki; Yoshihisa Takiyama; Kumi Sakoe; Kunihiko Ikeguchi; Kenji Niijima; J Kaneko; Michito Namekawa; T Ogawa; H Date; Shoji Tsuji; Imaharu Nakano; Masatoyo Nishizawa
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Neurology 2002;59(4):590-5.
2002: Yoshitaka Iwazu; Haruo Shimazaki; Mikio Sawada; Mitsuya Morita; Tadataka Kawakami; Yoshihisa Takiyama; Ken-ichi Fujimoto; Imaharu Nakano
[Behçet's disease with huge supratentorial white matter lesions in brain MRI].
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine 2002;91(8):2466-8.
2001: Hidetoshi Date; Osamu Onodera; Hajime Tanaka; K Iwabuchi; K Uekawa; Shuichi Igarashi; R Koike; T Hiroi; T Yuasa; Y Awaya; T Sakai; Toshiaki Takahashi; H Nagatomo; Y Sekijima; I Kawachi; Yoshihisa Takiyama; Masatoyo Nishizawa; Nobuyoshi Fukuhara; K Saito; S Sugano; Shoji Tsuji
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
Nature genetics 2001;29(2):184-8.
2001: Michito Namekawa; Yoshihisa Takiyama; Y Ando; Kumi Sakoe; S I Muramatsu; K I Fujimoto; Masatoyo Nishizawa; Imaharu Nakano
Choreiform movements in spinocerebellar ataxia type 1.
Journal of the neurological sciences 2001;187(1-2):103-6.
2001: Ichiro Yabe; Hidenao Sasaki; Isao Yamashita; Kunio Tashiro; Asako Takei; Y Suzuki; H Kida; Yoshihisa Takiyama; M Nishizawa; Youichi Hokezu; Keiji Nagamatsu; T Oda; A Ohnishi; I Inoue; A Hata
Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese.
Journal of medical genetics 2001;38(5):328-33.
2001: Haruo Shimazaki; Yoshihisa Takiyama; Kumi Sakoe; M Amaike; H Nagaki; Michito Namekawa; H Sasaki; Imaharu Nakano; Masatoyo Nishizawa
Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.
Journal of the neurological sciences 2001;185(2):101-7.
2001: Michito Namekawa; Yoshihisa Takiyama; Kumi Sakoe; Haruo Shimazaki; M Amaike; Kenji Niijima; Imaharu Nakano; Masatoyo Nishizawa
A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study.
Journal of the neurological sciences 2001;185(1):63-8.
2000: Youichi Hokezu; Yoshihisa Takiyama; Kumi Sakoe; Keiji Nagamatsu
[A familial case of spinocerebellar ataxia type 8 (SCA 8)--its clinical findings and an issue about the genetic basis].
Rinshō shinkeigaku = Clinical neurology 2000;40(11):1116-21.
2000: Takayoshi Shimohata; T Nakajima; M Yamada; C Uchida; Osamu Onodera; Satoshi Naruse; T Kimura; Reiji Koide; Kenkichi Nozaki; Yasuteru Sano; H Ishiguro; Kumi Sakoe; T Ooshima; Aki Sato; Takeshi Ikeuchi; Mutsuo Oyake; T Sato; Y Aoyagi; Isao Hozumi; Toshiharu Nagatsu; Yoshihisa Takiyama; Masatoyo Nishizawa; Jun Goto; Ichiro Kanazawa; I Davidson; Naoko Tanese; Hidenobu Takahashi; Shoji Tsuji
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription.
Nature genetics 2000;26(1):29-36.
2000: T Kawakami; Yoshihisa Takiyama; M Nonaka; Y Tanaka; Masatoyo Nishizawa; Imaharu Nakano
[An unusual case of epilepsy exhibiting gelastic seizure, simple visual hallucination, and transient swelling of the left parieto-occipital region].
Rinshō shinkeigaku = Clinical neurology 2000;40(1):24-8.
1999: T Kawakami; Yoshihisa Takiyama; Kumi Sakoe; T Ogawa; T Yoshioka; Masatoyo Nishizawa; M E Reid; O Kobayashi; I Nonaka; Imaharu Nakano
A case of McLeod syndrome with unusually severe myopathy.
Journal of the neurological sciences 1999;166(1):36-9.
1999: Yoshihisa Takiyama; Kumi Sakoe; M Amaike; M Soutome; T Ogawa; Imaharu Nakano; Masatoyo Nishizawa
Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases.
Human molecular genetics 1999;8(3):453-7.
1999: Yoshihisa Takiyama; Imaharu Nakano
[Late cortical cerebellar atrophy].
Ryōikibetsu shōkōgun shirīzu 1999;(27 Pt 2):247-50.
1998: H Takano; G Cancel; Takeshi Ikeuchi; D Lorenzetti; R Mawad; Giovanni Stevanin; O Didierjean; Alexandra Dürr; Mutsuo Oyake; Takayoshi Shimohata; R Sasaki; Reiji Koide; Shuichi Igarashi; Shintaro Hayashi; Yoshihisa Takiyama; Masatoyo Nishizawa; Hajime Tanaka; Huda Y Zoghbi; Alexis Brice; Shoji Tsuji
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
American journal of human genetics 1998;63(4):1060-6.
1998: S Hanyu; Y Sato; T Taguchi; Yoshihisa Takiyama; T Kawai; Imaharu Nakano
[An autopsy case of deep cerebral venous thrombosis: serial CT, MRI and pathological findings].
Rinshō shinkeigaku = Clinical neurology 1998;38(9):816-21.
1998: T Kawakami; Yoshihisa Takiyama; I Yanaka; T Taguchi; Y Tanaka; Masatoyo Nishizawa; Imaharu Nakano
Chronic bromvalerylurea intoxication: dystonic posture and cerebellar ataxia due to nonsteroidal anti-inflammatory drug abuse.
Internal medicine (Tokyo, Japan) 1998;37(9):788-91.
1998: Yoshihisa Takiyama; Kumi Sakoe; Michito Namekawa; M Soutome; E Esumi; T Ogawa; K Ishikawa; H Mizusawa; Imaharu Nakano; Masatoyo Nishizawa
A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene.
Journal of the neurological sciences 1998;158(2):141-7.
1998: Michito Namekawa; Yoshihisa Takiyama; N Ueno; Masatoyo Nishizawa
[A sporadic case of episodic ataxia with nystagmus (EA-2)].
Rinshō shinkeigaku = Clinical neurology 1998;38(5):446-9.
1998: Yoshihisa Takiyama; Haruo Shimazaki; M Morita; M Soutome; Kumi Sakoe; E Esumi; S Muramatsu; M Yoshida; Shuichi Igarashi; Hajime Tanaka; Shoji Tsuji; H Sasaki; A Wakisaka; Imaharu Nakano; Masatoyo Nishizawa
Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family.
Journal of the neurological sciences 1998;155(2):141-5.
1998: Osamu Onodera; J Idezuka; Shuichi Igarashi; Yoshihisa Takiyama; K Endo; H Takano; Mutsuo Oyake; Hajime Tanaka; Takashi Inuzuka; T Hayashi; T Yuasa; J Ito; T Miyatake; Shoji Tsuji
Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease.
Annals of neurology 1998;43(3):288-96.
1997: Yoshihisa Takiyama; Kumi Sakoe; Imaharu Nakano; Masatoyo Nishizawa
Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene.
Neurology 1997;49(2):604-6.
1997: Yoshihisa Takiyama; Kumi Sakoe; M Soutome; Michito Namekawa; T Ogawa; Imaharu Nakano; Shuichi Igarashi; Mutsuo Oyake; Hajime Tanaka; Shoji Tsuji; Masatoyo Nishizawa
Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.
Human molecular genetics 1997;6(7):1063-8.
1996: K Sanpei; H Takano; Shuichi Igarashi; T Sato; Mutsuo Oyake; H Sasaki; A Wakisaka; K Tashiro; Y Ishida; Takeshi Ikeuchi; Reiji Koide; M Saito; Aki Sato; T Tanaka; S Hanyu; Yoshihisa Takiyama; Masatoyo Nishizawa; N Shimizu; Y Nomura; M Segawa; K Iwabuchi; I Eguchi; Hajime Tanaka; Hidenobu Takahashi; S Tsuji
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
Nature genetics 1996;14(3):277-84.
1996: K Endo; H Sasaki; A Wakisaka; Hajime Tanaka; M Saito; Shuichi Igarashi; Yoshihisa Takiyama; K Sanpei; K Iwabuchi; Y Suzuki; K Onari; T Suzuki; Jean Weissenbach; J L Weber; Y Nomura; M Segawa; Masatoyo Nishizawa; S Tsuji
Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.
American journal of medical genetics 1996;67(5):437-44.
1996: Shuichi Igarashi; Yoshihisa Takiyama; G Cancel; Ekaterina Rogaeva; H Sasaki; A Wakisaka; Y X Zhou; H Takano; K Endo; K Sanpei; Mutsuo Oyake; Hajime Tanaka; Giovanni Stevanin; Nacer Abbas; Alexandra Dürr; Evgeny I Rogaev; R Sherrington; T Tsuda; Masaki Ikeda; E Cassa; Masatoyo Nishizawa; Ali Benomar; J Julien; Jean Weissenbach; G X Wang; Yves Agid; Peter St George-Hyslop; Alexis Brice; S Tsuji
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Human molecular genetics 1996;5(7):923-32.
1996: Takeshi Ikeuchi; Shuichi Igarashi; Yoshihisa Takiyama; Osamu Onodera; Mutsuo Oyake; H Takano; Reiji Koide; Hajime Tanaka; S Tsuji
Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.
American journal of human genetics 1996;58(4):730-3.
1995: K Sanpei; Shuichi Igarashi; I Eguchi; Yoshihisa Takiyama; Hajime Tanaka; S Tsuji
Direct detection of expanded (CAG/CTG) repeats in the myotonin-protein kinase genes of myotonic dystrophy patients using a high-stringency hybridization method.
Biochemical and biophysical research communications 1995;212(2):341-6.
1995: Yoshihisa Takiyama; Shuichi Igarashi; Ekaterina Rogaeva; K Endo; Evgeny I Rogaev; Hajime Tanaka; R Sherrington; K Sanpei; Yan Liang; M Saito
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.
Human molecular genetics 1995;4(7):1137-46.
1995: Yoshihisa Takiyama; S Tsuji
[The characteristics and the gene locus of Machado Joseph disease].
Nō to shinkei = Brain and nerve 1995;47(2):117-29.
1994: Yoshihisa Takiyama; S Oyanagi; S Kawashima; H Sakamoto; K Saito; M Yoshida; S Tsuji; Y Mizuno; Masatoyo Nishizawa
A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q.
Neurology 1994;44(7):1302-8.
1993: H Shimazaki; M Ogawa; Yoshihisa Takiyama; Masatoyo Nishizawa; M Yoshida
[Cerebral sinus thrombosis in a young man with hereditary protein C deficiency].
Rinshō shinkeigaku = Clinical neurology 1993;33(10):1083-5.
1993: Yoshihisa Takiyama; Masatoyo Nishizawa; Hajime Tanaka; S Kawashima; H Sakamoto; Y Karube; H Shimazaki; M Soutome; K Endo; S Ohta
The gene for Machado-Joseph disease maps to human chromosome 14q.
Nature genetics 1993;4(3):300-4.
1990: N Shimizu; Yoshihisa Takiyama; Y Mizuno; M Mizuno; K Saito; M Yoshida
Characteristics of oculomotor disorders of a family with Joseph's disease.
Journal of neurology 1990;237(7):393-8.
1990: S Muramatsu; Yoshihisa Takiyama; S Hanyu; K Niijima; M Yoshida
[A new family of Machado-Joseph disease--an abnormal decrease in signal intensity of the putamen in magnetic resonance imaging].
Rinshō shinkeigaku = Clinical neurology 1990;30(7):777-9.
1989: Yoshihisa Takiyama; S Ikemoto; Y Tanaka; Y Mizuno; M Yoshida; N Yasuda
A large Japanese family with Machado-Joseph disease: clinical and genetic studies.
Acta neurologica Scandinavica 1989;79(3):214-22.