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Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants

Alzheimer's & dementia : diagnosis, assessment & disease monitoring, 2021, Vol.13 (1), p.e12155-n/a

2021

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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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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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α-Synuclein promoter confers susceptibility to Parkinson's disease

Annals of neurology, 2004-10, Vol.56 (4), p.591-595

2004

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Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

Neuropathology, 2016-02, Vol.36 (1), p.27-38

2016

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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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Lack of association between bridging integrator 1 (BIN1) rs744373 polymorphism and tau‐PET load in cognitively intact older adults

Alzheimer's & dementia : translational research & clinical interventions, 2022, Vol.8 (1), p.e12227-n/a

2022

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

Human mutation, 2010-07, Vol.31 (7), p.763-780

2010

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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Human mutation, 2003-06, Vol.21 (6), p.615-621

2003

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Studying TLR9 loss‐of‐function in iPSC of patients with deleterious mutation

Alzheimer's & dementia, 2023-12, Vol.19 (S24)

2023

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Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

Human mutation, 2007-08, Vol.28 (8), p.830-830

2007

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Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients

Human mutation, 2006-10, Vol.27 (10), p.1057-1059

2006

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Progranulin upstream open reading frames of different 5’ leaders affect downstream protein expression

Alzheimer's & dementia, 2021-12, Vol.17 (S3), p.e050200-n/a

2021

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TOWARDS AN IMPROVED UNDERSTANDING AND ASSESSMENT OF ABCA7 RISK ON ALZHEIMER’S DISEASE

Alzheimer's & dementia, 2019-07, Vol.15 (7), p.P1310-P1310

2019

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P4‐093: TOWARDS AN IMPROVED UNDERSTANDING AND ASSESSMENT OF ABCA7 RISK ON ALZHEIMER'S DISEASE

Alzheimer's & dementia, 2019-07, Vol.15 (7S_Part_25), p.P1310-P1310

2019

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A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42

Alzheimer's & dementia, 2015-12, Vol.11 (12), p.1452-1460

2015

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Three upstream ORFs in an alternative GRN 5′UTR influence downstream protein expression

Alzheimer's & dementia, 2020-12, Vol.16, p.n/a

2020

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Exploration of the endo‐lysosomal pathway genes in frontotemporal dementia: The use of protein‐protein interaction networks to prioritize rare‐variant association analysis results: Genetics/molecular genetics

Alzheimer's & dementia, 2020-12, Vol.16 (S2)

2020

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Three upstream ORFs in an alternative GRN 5′UTR influence downstream protein expression: Genetics/molecular genetics

Alzheimer's & dementia, 2020-12, Vol.16 (S3)

2020

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Exploration of the endo‐lysosomal pathway genes in frontotemporal dementia: The use of protein‐protein interaction networks to prioritize rare‐variant association analysis results

Alzheimer's & dementia, 2020-12, Vol.16, p.n/a

2020

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Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

Human mutation, 2000-04, Vol.15 (4), p.340-347

2000

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Genotype‐phenotype of PSEN1 p.CYS263PHE carriers in Flanders‐Belgian Alzheimer’s disease patients

Alzheimer's & dementia, 2021-12, Vol.17, p.e055244-n/a

2021

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Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants

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

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

α-Synuclein promoter confers susceptibility to Parkinson's disease

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

Genes and loci involved in febrile seizures and related epilepsy syndromes

Lack of association between bridging integrator 1 (BIN1) rs744373 polymorphism and tau‐PET load in cognitively intact older adults

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Studying TLR9 loss‐of‐function in iPSC of patients with deleterious mutation

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

sTREM 2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early‐stage Alzheimer's disease and associate with neuronal injury markers

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients

sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early‐stage Alzheimer's disease and associate with neuronal injury markers

Progranulin upstream open reading frames of different 5’ leaders affect downstream protein expression

TOWARDS AN IMPROVED UNDERSTANDING AND ASSESSMENT OF ABCA7 RISK ON ALZHEIMER’S DISEASE

P4‐093: TOWARDS AN IMPROVED UNDERSTANDING AND ASSESSMENT OF ABCA7 RISK ON ALZHEIMER'S DISEASE

A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42

Three upstream ORFs in an alternative GRN 5′UTR influence downstream protein expression

Exploration of the endo‐lysosomal pathway genes in frontotemporal dementia: The use of protein‐protein interaction networks to prioritize rare‐variant association analysis results: Genetics/molecular genetics

Three upstream ORFs in an alternative GRN 5′UTR influence downstream protein expression: Genetics/molecular genetics

Exploration of the endo‐lysosomal pathway genes in frontotemporal dementia: The use of protein‐protein interaction networks to prioritize rare‐variant association analysis results

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

Genotype‐phenotype of PSEN1 p.CYS263PHE carriers in Flanders‐Belgian Alzheimer’s disease patients

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