H. Tanaka

发表

Linkage analysis of juvenile parkinsonism to tyrosine hydroxylase gene locus on chromosome 11

S. Tsuji, E. Ginns, T. Miyatake, 1991, Neurology.

Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)

O. Onodera, S. Tsuji, Hitoshi Takahashi, 1994, Nature Genetics.

Apolipoprotein E epsilon4 allele and progression of cortical Lewy body pathology in Parkinson's disease.

S. Tsuji, A. Kakita, S. Hayashi, 1998, Acta neuropathologica.

Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission

S. Tsuji, T. Shimohata, H. Tanaka, 1998, Neurology.

Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.

S. Tsuji, Y. Takiyama, T. Ikeuchi, 1996, American journal of human genetics.

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.

J. Weissenbach, K. Kidd, R. Sherrington, 1995, Human molecular genetics.

ApoE-epsilon 4 and early-onset Alzheimer's.

S. Tsuji, K. Oyanagi, H. Takahashi, 1994, Nature genetics.

Pure cerebellar ataxia phenotype in Machado-Joseph disease

S. Tsuji, H. Mizusawa, S. Shoji, 1996, Neurology.

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.

S. Tsuji, M. Nishizawa, Y. Takiyama, 1997, Human molecular genetics.

[Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)].

S. Tsuji, Y. Mizuno, H. Matsumine, 1997, Nihon rinsho. Japanese journal of clinical medicine.

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.

I. Kanazawa, S. Tsuji, M. Miwa, 1997, American journal of human genetics.

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

S. Tsuji, Hitoshi Takahashi, H. Takahashi, 1996, Nature Genetics.

The gene for Machado–Joseph disease maps to human chromosome 14q

Y. Kagawa, O. Onodera, I. Kanazawa, 1993, Nature Genetics.

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

S. Tsuji, K. Bulayeva, S. Limborska, 1996, Brain : a journal of neurology.

Machado-Joseph disease in four Chinese pedigrees

J. Weissenbach, S. Tsuji, Y. Takiyama, 1997, Neurology.

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

I. Kanazawa, G. Sobue, T. Shimohata, 1999, Human molecular genetics.

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.

J. Weissenbach, Y. Agid, R. Sherrington, 1996, Human molecular genetics.

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

Y. Fukushima, N. Niikawa, Y. Nakamura, 1999, American journal of human genetics.

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.

H. Zoghbi, S. Tsuji, A. Durr, 1998, American journal of human genetics.

Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.

S. Tsuji, M. Yamada, H. Takahashi, 1996, American journal of human genetics.

Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.

S. Tsuji, K. Kaida, Hajime Tanaka, 1999, Archives of neurology.

Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.

A A Schäffer, Y Mizuno, Y Yamamura, 1997, American journal of human genetics.

Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation.

S. Tsuji, T. Ikeuchi, Hajime Tanaka, 1995, Seminars in cell biology.

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

S. Tsuji, K. Kaida, S. Kuzuhara, 1999, Archives of neurology.

Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A

S. Tsuji, Y. Hayashi, I. Hozumi, 1997, Neurology.

Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene.

S. Tsuji, Hajime Tanaka, H. Tanaka, 1997, Genomics.

Molecular cloning of murine homologue dentatorubral-pallidoluysian atrophy (DRPLA) cDNA: strong conservation of a polymorphic CAG repeat in the murine gene.

S. Tsuji, R. Kominami, T. Ikeuchi, 1997, Genomics.

Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy

O. Onodera, H. Beppu, S. Tsuji, 1997, Neurology.

Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds.

P. Maciel, J. Guimarães, P. Coutinho, 1994, Genomics.

Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families.

I. Kanazawa, S. Tsuji, H. Mizusawa, 1996, Brain : a journal of neurology.

Dentatorubral-pallidoluysian atrophy (DRPLA). Molecular basis for wide clinical features of DRPLA.

S. Tsuji, T. Ikeuchi, O. Onodera, 1995, Clinical neuroscience.

[Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation].

S. Tsuji, T. Miyatake, H. Tanaka, 1993, Nihon rinsho. Japanese journal of clinical medicine.

The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q

D. Weeks, S. Tsuji, Hajime Tanaka, 1995, Annals of Neurology.

Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.

J. Weber, J. Weissenbach, S. Tsuji, 1996, American journal of medical genetics.