List of works - Ekaterina Rogaeva

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

TREM2 Variants in Alzheimer's Disease

scientific article published on November 14, 2012

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

scientific article

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

scientific article

The Presenilin 1 Protein Is a Component of a High Molecular Weight Intracellular Complex That Contains β-Catenin

scientific article published on June 26, 1998

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes

scientific article

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

scientific article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

scientific article

TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity

scientific article

Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations

scientific article

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

scientific article published on 23 May 2013

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

scientific article published on July 2007

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

Microbleed Topography, Leukoaraiosis, and Cognition in Probable Alzheimer Disease From the Sunnybrook Dementia Study

scholarly article by Jacqueline A. Pettersen et al published 1 June 2008 in Archives of Neurology

Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex

scientific article published on February 1999

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

scientific article published in August 2017

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

scientific article published on 12 September 2012

Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the familial form

scientific article

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

scientific article

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

article

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

scientific article

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS.

scientific article published on 21 March 2011

Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals

scientific article published on 8 November 2010

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

scientific article

The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort

scientific article published on April 2007

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

scientific article published on 9 October 2006

Nicastrin binds to membrane-tethered Notch

scientific article published in August 2001

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

scientific article

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

scientific article

Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity

scientific article published in August 1998

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

article

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

scientific article published on 26 September 2014

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

scientific article

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

scientific article

SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk

scientific article

Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications

scientific article

Isoform‐specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

scientific article published on August 29, 2015

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin

scientific article (publication date: March 1999)

Analysis of the glucocerebrosidase gene in Parkinson's disease

article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Coding mutations in SORL1 and Alzheimer disease

scientific article

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

scientific article

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

scientific article

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

scientific article

List of works by Ekaterina Rogaeva

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

TREM2 Variants in Alzheimer's Disease

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

The Presenilin 1 Protein Is a Component of a High Molecular Weight Intracellular Complex That Contains β-Catenin

Analysis of shared heritability in common disorders of the brain

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity

Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

Microbleed Topography, Leukoaraiosis, and Cognition in Probable Alzheimer Disease From the Sunnybrook Dementia Study

Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the familial form

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

Frontotemporal dementia and its subtypes: a genome-wide association study

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS.

Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

Nicastrin binds to membrane-tethered Notch

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk

Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications

Isoform‐specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

Large-scale replication and heterogeneity in Parkinson disease genetic loci

Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin

Analysis of the glucocerebrosidase gene in Parkinson's disease

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Coding mutations in SORL1 and Alzheimer disease

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation