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A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

Neurology, 2010-09, Vol.75 (13), p.1189-1194

2010

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Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

Nature medicine, 1996-08, Vol.2 (8), p.864-870

1996

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Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions

Neurology, 2000-02, Vol.54 (4), p.818-827

2000

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parkin mutation analysis in clinic patients with early-onset Parkinson's disease

American journal of medical genetics. Part A, 2004-08, Vol.129A (1), p.44-50

2004

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The genetics of Alzheimer's disease

Current psychiatry reports, 2000-04, Vol.2 (2), p.158-164

2000

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Tau is a candidate gene for chromosome 17 frontotemporal dementia

Annals of neurology, 1998-06, Vol.43 (6), p.815-825

1998

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Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD

Neurology, 1997-04, Vol.48 (4), p.949-954

1997

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Missense and Silent Tau Gene Mutations Cause Frontotemporal Dementia with Parkinsonism-Chromosome 17 Type, by Affecting Multiple Alternative RNA Splicing Regulatory Elements

Proceedings of the National Academy of Sciences - PNAS, 1999-05, Vol.96 (10), p.5598-5603

1999

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High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

Human molecular genetics, 2005-11, Vol.14 (21), p.3281-3292

2005

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Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia

Archives of neurology (Chicago), 2001-03, Vol.58 (3), p.383

2001

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Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

Science (American Association for the Advancement of Science), 1995-08, Vol.269 (5226), p.973-977

1995

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Pathogenic Implications of Mutations in the Tau Gene in Pallido-Ponto-Nigral Degeneration and Related Neurodegenerative Disorders Linked to Chromosome 17

Proceedings of the National Academy of Sciences - PNAS, 1998-10, Vol.95 (22), p.13103-13107

1998

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Parkin mutation analysis in clinic patients with early-onset Parkinson's disease (Am J Med Genet 129A: 44-50, 2004)

American journal of medical genetics. Part A, 2005-11, Vol.139A (1), p.56-56

2005

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Genomic Structure and Expression of STM2, the Chromosome 1 Familial Alzheimer Disease Gene

Genomics (San Diego, Calif.), 1996-06, Vol.34 (2), p.198-204

1996

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A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

Brain (London, England : 1878), 1999-04, Vol.122 (4), p.741-756

1999

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Antibodies to presenilin proteins detect neurofibrillary tangles in Alzheimer's disease

The American journal of pathology, 1996-12, Vol.149 (6), p.1839-1846

1996

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A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration

Neurology, 1999-09, Vol.53 (4), p.864-864

1999

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A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity

Movement disorders, 2010-07, Vol.25 (10), p.1409-1417

2010

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A novel mutation at position +12 in the intron following Exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)

Annals of neurology, 2000-04, Vol.47 (4), p.422-429

2000

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A distinct familial presenile dementia with a novel missense mutation in the tau gene

Neuroreport, 1999-02, Vol.10 (3), p.497-501

1999

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Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development

Human molecular genetics, 1996-05, Vol.5 (5), p.571-579

1996

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A genomic sequence analysis of the mouse and human microtubule-associated protein tau

Mammalian genome, 2001-09, Vol.12 (9), p.700-712

2001

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Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation

Journal of neurochemistry, 2003-10, Vol.87 (2), p.427-436

2003

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Wide range in age of onset for chromosome 1-related familial Alzheimer's disease

Annals of neurology, 1996-12, Vol.40 (6), p.932-936

1996

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Amyloid β protein (Aβ) deposition in chromosome 14-linked Alzheimer's disease: Predominance of Aβ42(43)

Annals of neurology, 1996-08, Vol.40 (2), p.149-156

1996

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A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions

parkin mutation analysis in clinic patients with early-onset Parkinson's disease

The genetics of Alzheimer's disease

Tau is a candidate gene for chromosome 17 frontotemporal dementia

Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD

Missense and Silent Tau Gene Mutations Cause Frontotemporal Dementia with Parkinsonism-Chromosome 17 Type, by Affecting Multiple Alternative RNA Splicing Regulatory Elements

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia

Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

Pathogenic Implications of Mutations in the Tau Gene in Pallido-Ponto-Nigral Degeneration and Related Neurodegenerative Disorders Linked to Chromosome 17

Parkin mutation analysis in clinic patients with early-onset Parkinson's disease (Am J Med Genet 129A: 44-50, 2004)

Genomic Structure and Expression of STM2, the Chromosome 1 Familial Alzheimer Disease Gene

A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

Antibodies to presenilin proteins detect neurofibrillary tangles in Alzheimer's disease

A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration

A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity

A novel mutation at position +12 in the intron following Exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)

A distinct familial presenile dementia with a novel missense mutation in the tau gene

Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development

A genomic sequence analysis of the mouse and human microtubule-associated protein tau

Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation

Wide range in age of onset for chromosome 1-related familial Alzheimer's disease

Amyloid β protein (Aβ) deposition in chromosome 14-linked Alzheimer's disease: Predominance of Aβ42(43)

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