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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Human molecular genetics, 2008-01, Vol.17 (2), p.313-322

2008

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Alzheimer-associated C allele of the promoter polymorphism −22C>T causes a critical neuron-specific decrease of presenilin 1 expression

Human molecular genetics, 2003-04, Vol.12 (8), p.869-877

2003

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Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

Human molecular genetics, 2005-07, Vol.14 (13), p.1753-1762

2005

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Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

Human molecular genetics, 2013-10, Vol.22 (R1), p.R77-R87

2013

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Transcriptional regulation of Alzheimer's disease genes : implications for susceptibility

Human molecular genetics, 2000-10, Vol.9 (16), p.2383-2394

2000

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Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

Human molecular genetics, 2000-02, Vol.9 (3), p.325-331

2000

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Pathogenesis of polyglutamine disorders: aggregation revisited

Human molecular genetics, 2003-10, Vol.12 (suppl-2), p.R173-R186

2003

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Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3

Human molecular genetics, 1995-12, Vol.4 (12), p.2363-2371

1995

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Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex

Human molecular genetics, 2001-11, Vol.10 (24), p.2821-2831

2001

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A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees

Human molecular genetics, 1997-06, Vol.6 (6), p.953-961

1997

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Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

Human molecular genetics, 2010-06, Vol.19 (11), p.2228-2238

2010

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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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Current status on Alzheimer disease molecular genetics: from past, to present, to future: Molecular Genetic Advances in Neurological Disease

Human molecular genetics, 2010, Vol.19 (1)

2010

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Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

Human molecular genetics, 1998-01, Vol.7 (1), p.43-51

1998

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Pathogenic APP mutations near the γ-secretase cleavage site differentially affect Aβ secretion and APP C-terminal fragment stability

Human molecular genetics, 2001-08, Vol.10 (16), p.1665-1671

2001

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The presenilin genes: a new gene family involved in Alzheimer disease pathology

Human molecular genetics, 1996-01, Vol.5 (Supplement-1), p.1449-1455

1996

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Molecular Genetic Analysis of Autosomal Dominant Cerebellar Ataxia with Retinal Degeneration (ADCA Type II) Caused by CAG Triplet Repeat Expansion

Human molecular genetics, 1998-02, Vol.7 (2), p.177-186

1998

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Aberrant Splicing in the Presenilin-1 Intron 4 Mutation Causes Presenile Alzheimer's Disease by Increased Aβ42 Secretion

Human molecular genetics, 1999-08, Vol.8 (8), p.1529-1540

1999

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Distal Hereditary Motor Neuropathy Type II (Distal HMN II): Mapping of a Locus to Chromosome 12q24

Human molecular genetics, 1996-07, Vol.5 (7), p.1065-1069

1996

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Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

Human molecular genetics, 1993-12, Vol.2 (12), p.2031-2035

1993

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Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype

Human molecular genetics, 1994-09, Vol.3 (9), p.1701-1702

1994

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Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot—Marie— Tooth disease type 1

Human molecular genetics, 1994-03, Vol.3 (3), p.515-516

1994

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An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21

Human molecular genetics, 1994-05, Vol.3 (5), p.759-770

1994

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Pathogenic APP mutations near the [gamma]-secretase cleavage site differentially affect A[beta] secretion and APP C-terminal fragment stability

Human molecular genetics, 2001-08, Vol.10 (16), p.1665

2001

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Nonfibrillar diffuse amyloid deposition due to a γ42-secretase site mutation points to an essential role for N-truncated Aβ42in Alzheimer's disease

Human molecular genetics, 2000, Vol.9 (18), p.2589-2598

2000

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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Alzheimer-associated C allele of the promoter polymorphism −22C>T causes a critical neuron-specific decrease of presenilin 1 expression

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

Transcriptional regulation of Alzheimer's disease genes : implications for susceptibility

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

Pathogenesis of polyglutamine disorders: aggregation revisited

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3

Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex

A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

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

Current status on Alzheimer disease molecular genetics: from past, to present, to future: Molecular Genetic Advances in Neurological Disease

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

Pathogenic APP mutations near the γ-secretase cleavage site differentially affect Aβ secretion and APP C-terminal fragment stability

The presenilin genes: a new gene family involved in Alzheimer disease pathology

Molecular Genetic Analysis of Autosomal Dominant Cerebellar Ataxia with Retinal Degeneration (ADCA Type II) Caused by CAG Triplet Repeat Expansion

Aberrant Splicing in the Presenilin-1 Intron 4 Mutation Causes Presenile Alzheimer's Disease by Increased Aβ42 Secretion

Distal Hereditary Motor Neuropathy Type II (Distal HMN II): Mapping of a Locus to Chromosome 12q24

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot—Marie— Tooth disease type 1

An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21

Pathogenic APP mutations near the [gamma]-secretase cleavage site differentially affect A[beta] secretion and APP C-terminal fragment stability

Nonfibrillar diffuse amyloid deposition due to a γ42-secretase site mutation points to an essential role for N-truncated Aβ42in Alzheimer's disease

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