List of works - Ekaterina Rogaeva

Clathrin adaptor CALM/PICALM is associated with neurofibrillary tangles and is cleaved in Alzheimer's brains

scientific article

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

Investigation of c9orf72 in 4 neurodegenerative disorders

scientific article published on December 2012

A Founder Mutation in Presenilin 1 Causing Early-Onset Alzheimer Disease in Unrelated Caribbean Hispanic Families

scientific article published on November 14, 2001

Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells

scientific article published in November 2000

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

scientific article published on 16 January 2012

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

scientific article published on 16 December 2017

Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline

scientific article

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

scientific article

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

Mutation analysis of CHCHD10 in different neurodegenerative diseases

scientific article published on 31 March 2015

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

scientific article published on 6 June 2014

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

scientific article published on 21 July 2012

Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP)

scientific article published on 14 May 2013

Conversion to dementia among two groups with cognitive impairment. A preliminary report

scientific article published on 6 August 2004

Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles

scientific article

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

scientific article (publication date: 2012)

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

scientific article published on 2 November 2015

Genetic Variability in CHMP2B and Frontotemporal Dementia

article

Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

scientific article

Expanded Genomewide Scan Implicates a Novel Locus at 3q28 Among Caribbean Hispanics With Familial Alzheimer Disease

Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes

scientific article

Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.

scientific article published in July 1998

Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease

scientific article published on 17 October 2007

The Prion Protein Controls Polysialylation of Neural Cell Adhesion Molecule 1 during Cellular Morphogenesis

scientific article published on August 19, 2015

LIV-1 ZIP ectodomain shedding in prion-infected mice resembles cellular response to transition metal starvation

scientific article

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity

scientific article

Family reunion--the ZIP/prion gene family

scientific article published on 14 December 2010

Drug repositioning for diabetes based on 'omics' data mining

scientific article

Identical twins with the C9orf72 repeat expansion are discordant for ALS

scientific article

Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics

scientific article

Olfactory heterogeneity in LRRK2 related Parkinsonism

scientific article

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

scientific article published on 28 April 2016

Jump from pre-mutation to pathologic expansion in C9orf72.

scientific article published on 21 May 2015

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease

scientific article

Collagenosis of the Deep Medullary Veins: An Underrecognized Pathologic Correlate of White Matter Hyperintensities and Periventricular Infarction?

scientific article

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

scholarly article by Cindy Zadikoff et al published 17 March 2006 in Movement Disorders

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

scientific article

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

scientific article

Benign hereditary chorea: clinical, genetic, and pathological findings

scientific article

F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease

scientific article

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

scientific article

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

scientific article

A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease

scientific article

Genetic complexity of Alzheimer's disease: successes and challenges.

scientific article published in January 2006

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

scientific article published on 7 December 2017

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

scientific article published on March 2009

Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation

scientific article published on 17 February 2010

Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease

scientific article published on May 1998

List of works by Ekaterina Rogaeva

Clathrin adaptor CALM/PICALM is associated with neurofibrillary tangles and is cleaved in Alzheimer's brains

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

Investigation of c9orf72 in 4 neurodegenerative disorders

A Founder Mutation in Presenilin 1 Causing Early-Onset Alzheimer Disease in Unrelated Caribbean Hispanic Families

Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Mutation analysis of CHCHD10 in different neurodegenerative diseases

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism

Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP)

Conversion to dementia among two groups with cognitive impairment. A preliminary report

Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

Genetic Variability in CHMP2B and Frontotemporal Dementia

Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

Expanded Genomewide Scan Implicates a Novel Locus at 3q28 Among Caribbean Hispanics With Familial Alzheimer Disease

Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes

Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.

Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease

The Prion Protein Controls Polysialylation of Neural Cell Adhesion Molecule 1 during Cellular Morphogenesis

LIV-1 ZIP ectodomain shedding in prion-infected mice resembles cellular response to transition metal starvation

Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity

Family reunion--the ZIP/prion gene family

Drug repositioning for diabetes based on 'omics' data mining

Identical twins with the C9orf72 repeat expansion are discordant for ALS

Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics

Olfactory heterogeneity in LRRK2 related Parkinsonism

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

Jump from pre-mutation to pathologic expansion in C9orf72.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease

Collagenosis of the Deep Medullary Veins: An Underrecognized Pathologic Correlate of White Matter Hyperintensities and Periventricular Infarction?

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

Benign hereditary chorea: clinical, genetic, and pathological findings

F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease

Genetic complexity of Alzheimer's disease: successes and challenges.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation

Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease