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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Molecular psychiatry, 2012-09, Vol.17 (9), p.875-879

2012

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Establishment of induced pluripotent stem cells IRMBi005-A from a patient with sporadic Alzheimer’s disease

Stem cell research, 2023-10, Vol.72, p.103216-103216, Article 103216

2023

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Generation of induced pluripotent stem cell lines IRMBi003-A and IRMBi003-B from a healthy donor to model Alzheimer's disease

Stem cell research, 2023-12, Vol.73, p.103250-103250, Article 103250

2023

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APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage

Journal of neurology, neurosurgery and psychiatry, 2007-10, Vol.78 (10), p.1158-1159

2007

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Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene

Stem cell research, 2019-01, Vol.34, p.101381-101381, Article 101381

2019

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Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene

Stem cell research, 2019-05, Vol.37, p.101438-101438, Article 101438

2019

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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Neurology, 2013-01, Vol.80 (2), p.181-187

2013

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Alzheimer disease: modeling an Aβ-centered biological network

Molecular psychiatry, 2016-07, Vol.21 (7), p.861-871

2016

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De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Molecular psychiatry, 2015-09, Vol.20 (9), p.1046-1056

2015

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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Molecular psychiatry, 2017-08, Vol.22 (8), p.1119-1125

2017

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Intrafamilial diversity of phenotype associated with app duplication

Neurology, 2008-12, Vol.71 (23), p.1925-1926

2008

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Variations in the APP gene promoter region and risk of Alzheimer disease

Neurology, 2007-02, Vol.68 (9), p.684-687

2007

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Recent insights into the molecular genetics of dementia

Trends in neurosciences (Regular ed.), 2009-08, Vol.32 (8), p.451-461

2009

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Nature genetics, 2006-01, Vol.38 (1), p.24-26

2006

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Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

Brain (London, England : 1878), 2009-03, Vol.132 (3), p.583-591

2009

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Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1630-1634

2016

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SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

Molecular psychiatry, 2016-06, Vol.21 (6), p.831-836

2016

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Alzheimer disease: modeling an A[beta]-centered biological network

Molecular psychiatry, 2016-07, Vol.21 (7), p.861

2016

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De novo deleterious genetic variations target a biological network centered on A[beta] peptide in early-onset Alzheimer disease

Molecular psychiatry, 2015-09, Vol.20 (9), p.1046

2015

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Génétique de la maladie d’Alzheimer sporadique avant 50ans

Revue neurologique, 2014-04, Vol.170, p.A196-A197

2014

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Génétique de la maladie d’Alzheimer sporadique avant 50 ans

Revue neurologique, 2014-04, Vol.170, p.A196-A197

2014

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A Polymorphism in CALHM1 Influences Ca super(2) super(+) Homeostasis, Ab Levels, and Alzheimer's Disease Risk

Cell, 2008-06, Vol.133 (7), p.1149-1161

2008

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O1-1 Etat actuel des investigations dans les formes monogéniques de maladie d’Alzheimer du sujet jeune

Revue neurologique, 2009-10, Vol.165 (10), p.37-37

2009

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uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

Human mutation, 2022-09, Vol.43 (9), p.1239-1248

2022

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Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

Movement disorders, 2020-08, Vol.35 (8), p.1336-1345

2020

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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Establishment of induced pluripotent stem cells IRMBi005-A from a patient with sporadic Alzheimer’s disease

Generation of induced pluripotent stem cell lines IRMBi003-A and IRMBi003-B from a healthy donor to model Alzheimer's disease

APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage

Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene

Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Alzheimer disease: modeling an Aβ-centered biological network

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Intrafamilial diversity of phenotype associated with app duplication

Variations in the APP gene promoter region and risk of Alzheimer disease

Recent insights into the molecular genetics of dementia

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

Alzheimer disease: modeling an A[beta]-centered biological network

De novo deleterious genetic variations target a biological network centered on A[beta] peptide in early-onset Alzheimer disease

Génétique de la maladie d’Alzheimer sporadique avant 50ans

Génétique de la maladie d’Alzheimer sporadique avant 50 ans

A Polymorphism in CALHM1 Influences Ca super(2) super(+) Homeostasis, Ab Levels, and Alzheimer's Disease Risk

O1-1 Etat actuel des investigations dans les formes monogéniques de maladie d’Alzheimer du sujet jeune

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

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