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The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

Science (American Association for the Advancement of Science), 2013-03, Vol.339 (6125), p.1335-1338

2013

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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

Human genomics, 2009-01, Vol.3 (2), p.169-190

2009

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The Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting

Journal of Alzheimer's disease, 2017, Vol.60 (2), p.561-576

2017

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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Genome medicine, 2021-04, Vol.13 (1), p.59-59, Article 59

2021

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The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease

Proceedings of the National Academy of Sciences - PNAS, 2024-09, Vol.121 (37)

2024

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A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a

2018

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Nature genetics, 2001-07, Vol.28 (3), p.211-212

2001

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Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13633

2021

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Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.197-197, Article 197

2019

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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Nature genetics, 2004-06, Vol.36 (6), p.597-601

2004

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IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4516

2020

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Major affective disorders and schizophrenia: a common molecular signature?

Human mutation, 2006-09, Vol.27 (9), p.833-853

2006

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Amyloid precursor protein mutation E682K at the alternative β‐secretase cleavage β′‐site increases Aβ generation

EMBO molecular medicine, 2011-05, Vol.3 (5), p.291-302

2011

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Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

American journal of human genetics, 2006-06, Vol.78 (6), p.936-946

2006

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Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

Biomolecules (Basel, Switzerland), 2022-03, Vol.12 (3), p.440

2022

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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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Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

Trends in genetics, 2015-03, Vol.31 (3), p.140-149

2015

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A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population

American journal of human genetics, 2007-07, Vol.81 (1), p.17-31

2007

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Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

Alzheimer's research & therapy, 2020-09, Vol.12 (1), p.1-14, Article 108

2020

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Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

Biomedicines, 2021-12, Vol.10 (1), p.20

2021

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Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Nature genetics, 2005-10, Vol.37 (10), p.1044-1046

2005

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The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

Biochemical Society transactions, 2011-08, Vol.39 (4), p.954-959

2011

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Genes and loci involved in febrile seizures and related epilepsy syndromes

Human mutation, 2006-05, Vol.27 (5), p.391-401

2006

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Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

PloS one, 2012-04, Vol.7 (4), p.e34292-e34292

2012

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The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

The Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated TREM2 R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network

Major affective disorders and schizophrenia: a common molecular signature?

Amyloid precursor protein mutation E682K at the alternative β‐secretase cleavage β′‐site increases Aβ generation

Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

Frontotemporal Lobar Degeneration Case with an N-Terminal TUBA4A Mutation Exhibits Reduced TUBA4A Levels in the Brain and TDP-43 Pathology

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

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population

Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

Genes and loci involved in febrile seizures and related epilepsy syndromes

Longer leukocyte telomere length is associated with smaller hippocampal volume among non-demented APOE ε3/ε3 subjects

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