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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Nature genetics, 1997-09, Vol.17 (1), p.65-70

1997

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Spinocerebellar ataxia 3 and machado-joseph disease: Clinical, molecular, and neuropathological features

Annals of neurology, 1996-04, Vol.39 (4), p.490-499

1996

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The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates

Neurobiology of disease, 2003-12, Vol.14 (3), p.357-364

2003

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Increased Expression and Redistribution of the Antiapoptotic Molecule Bcl-xL in Parkinson's Disease

Neurobiology of disease, 2002-06, Vol.10 (1), p.28-32

2002

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Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus

American journal of human genetics, 1995-10, Vol.57 (4), p.809-816

1995

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Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Family

American journal of human genetics, 1998-07, Vol.63 (1), p.88-94

1998

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Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death

Human molecular genetics, 2003-03, Vol.12 (5), p.517-526

2003

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Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse

Human molecular genetics, 2003-09, Vol.12 (18), p.2277-2291

2003

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A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe

Human molecular genetics, 1999-04, Vol.8 (4), p.567-574

1999

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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Nature genetics, 1996-11, Vol.14 (3), p.285-291

1996

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Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon

American journal of human genetics, 1997-06, Vol.60 (6), p.1548-1552

1997

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Molecular and Clinical Correlations in Autosomal Dominant Cerebellar Ataxia with Progressive Macular Dystrophy (SCA7)

Human molecular genetics, 1998-02, Vol.7 (2), p.165-170

1998

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A Regulatory Cascade Hypothesis for Mammalian Sex Determination: SRY Represses a Negative Regulator of Male Development

Proceedings of the National Academy of Sciences - PNAS, 1993-04, Vol.90 (8), p.3368-3372

1993

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Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

Human molecular genetics, 1997-05, Vol.6 (5), p.709-715

1997

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

Human molecular genetics, 1994-02, Vol.3 (2), p.223-228

1994

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XY Sex Reversal Associated with a Deletion 5' to the SRY "HMG Box" in the Testis-Determining Region

Proceedings of the National Academy of Sciences - PNAS, 1992-11, Vol.89 (22), p.11016-11020

1992

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Cloning of Rat Parkin cDNA and Distribution of Parkin in Rat Brain

Journal of neurochemistry, 2000-04, Vol.74 (4), p.1773-1776

2000

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Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease

Human mutation, 1998, Vol.11 (1), p.23-27

1998

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A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies

American journal of human genetics, 1995, Vol.56 (1), p.91-98

1995

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Screening for Proteins with Polyglutamine Expansions in Autosomal Dominant Cerebellar Ataxias

Human molecular genetics, 1996-12, Vol.5 (12), p.1887-1892

1996

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A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?

Human molecular genetics, 1996-01, Vol.5 (1), p.103-106

1996

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A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

Human genetics, 1992-09, Vol.90 (1-2), p.121-125

1992

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A possible common origin of Y-negativë human XX males and XX true hermaphrodites

Human genetics, 1990-03, Vol.84 (4), p.356-360

1990

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Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

Journal of medical genetics, 1995-10, Vol.32 (10), p.827-830

1995

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Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado‐Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon

American journal of human genetics, 1997-06, Vol.60 (6), p.1548-1551

1997

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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Spinocerebellar ataxia 3 and machado-joseph disease: Clinical, molecular, and neuropathological features

The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates

Increased Expression and Redistribution of the Antiapoptotic Molecule Bcl-xL in Parkinson's Disease

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus

Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Family

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse

A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon

Molecular and Clinical Correlations in Autosomal Dominant Cerebellar Ataxia with Progressive Macular Dystrophy (SCA7)

A Regulatory Cascade Hypothesis for Mammalian Sex Determination: SRY Represses a Negative Regulator of Male Development

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

XY Sex Reversal Associated with a Deletion 5' to the SRY "HMG Box" in the Testis-Determining Region

Cloning of Rat Parkin cDNA and Distribution of Parkin in Rat Brain

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies

Screening for Proteins with Polyglutamine Expansions in Autosomal Dominant Cerebellar Ataxias

A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

A possible common origin of Y-negativë human XX males and XX true hermaphrodites

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado‐Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon

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