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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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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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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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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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Current status on Alzheimer disease molecular genetics: from past, to present, to future
Human molecular genetics, 2010-04, Vol.19 (R1), p.R4-R11
2010
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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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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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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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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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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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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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X-linked liver glycogenosis: localization and isolation of a candidate gene
Human molecular genetics, 1993-05, Vol.2 (5), p.583-589
1993
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