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

Nature genetics, 1996-11, Vol.14 (3), p.277-284

1996

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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, 1998-10, Vol.63 (4), p.1060-1066

1998

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Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus

Neurology, 2004-02, Vol.62 (4), p.648

2004

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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, 1997-07, Vol.6 (7), p.1063-1068

1997

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

American journal of human genetics, 1996-06, Vol.58 (6), p.1212-1222

1996

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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, 1996-04, Vol.58 (4), p.730-733

1996

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Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch

Nature genetics, 1998-02, Vol.18 (2), p.111-117

1998

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Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

Annals of neurology, 2004-02, Vol.55 (2), p.241-249

2004

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Home care of patients with advanced terminal cancer who had improved QOL after undergoing gastrostomy for gastrointestinal obstruction caused by peritonitis carcinomatosa

Gan to kagaku ryoho, 2000-12, Vol.27 Suppl 3, p.745

2000

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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, 1998-03, Vol.43 (3), p.288-296

1998

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Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS

American journal of human genetics, 1995-11, Vol.57 (5), p.1050-1060

1995

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

Clinical neuroscience (New York, N.Y.), 1995, Vol.3 (1), p.23

1995

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Studies on glutathione of human placenta (author's transl)

Nihon Sanka Fujinka Gakkai zasshi, 1981-01, Vol.33 (1), p.97

Oyake, M

1981

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Neuropathology of sporadic amyotrophic lateral sclerosis of long duration

Journal of the neurological sciences, 1997-03, Vol.146 (2), p.139-143

1997

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Adenovirus-Mediated Expression of Mutant DRPLA Proteins with Expanded Polyglutamine Stretches in Neuronally Differentiated PC12 Cells. Preferential Intranuclear Aggregate Formation and Apoptosis

Human molecular genetics, 1999-06, Vol.8 (6), p.997-1006

1999

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Sporadic motor neuron disease with severe sensory neuronopathy

Acta neuropathologica, 1998-04, Vol.95 (4), p.426-430

1998

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Activation of Inducible NOS in Peripheral Vessels and Outcomes in Heart Failure Patients

Journal of cardiac failure, 2008-11, Vol.14 (9), p.724-731

2008

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An acute axonal polyneuropathy affecting intrinsic hand muscles following Campylobacter infection--a case report

Rinshō shinkeigaku, 1992-03, Vol.32 (3), p.304

1992

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Molecular Cloning of Murine Homologue Dentatorubral-Pallidoluysian Atrophy (DRPLA) cDNA: Strong Conservation of a Polymorphic CAG Repeat in the Murine Gene

Genomics (San Diego, Calif.), 1997-02, Vol.40 (1), p.205-207

1997

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

Seminars in cell biology, 1995-02, Vol.6 (1), p.37-44

1995

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The RING Heterodimer BRCA1-BARD1 Is a Ubiquitin Ligase Inactivated by a Breast Cancer-derived Mutation

The Journal of biological chemistry, 2001-05, Vol.276 (18), p.14537-14540

2001

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An Nrf2/Small Maf Heterodimer Mediates the Induction of Phase II Detoxifying Enzyme Genes through Antioxidant Response Elements

Biochemical and biophysical research communications, 1997-07, Vol.236 (2), p.313-322

1997

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

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

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus

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

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

Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease : The mutant allele is preferentially transmitted in male meiosis

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

Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

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

Home care of patients with advanced terminal cancer who had improved QOL after undergoing gastrostomy for gastrointestinal obstruction caused by peritonitis carcinomatosa

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

Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS

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

Studies on glutathione of human placenta (author's transl)

Neuropathology of sporadic amyotrophic lateral sclerosis of long duration

Adenovirus-Mediated Expression of Mutant DRPLA Proteins with Expanded Polyglutamine Stretches in Neuronally Differentiated PC12 Cells. Preferential Intranuclear Aggregate Formation and Apoptosis

Sporadic motor neuron disease with severe sensory neuronopathy

Activation of Inducible NOS in Peripheral Vessels and Outcomes in Heart Failure Patients

An acute axonal polyneuropathy affecting intrinsic hand muscles following Campylobacter infection--a case report

Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription

Molecular Cloning of Murine Homologue Dentatorubral-Pallidoluysian Atrophy (DRPLA) cDNA: Strong Conservation of a Polymorphic CAG Repeat in the Murine Gene

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

The RING Heterodimer BRCA1-BARD1 Is a Ubiquitin Ligase Inactivated by a Breast Cancer-derived Mutation

An Nrf2/Small Maf Heterodimer Mediates the Induction of Phase II Detoxifying Enzyme Genes through Antioxidant Response Elements

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