Ekaterina Rogaeva

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

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

Genetic markers in the diagnosis of Alzheimer's disease.

The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease.

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

PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.

Clinical findings in a large family with a parkin ex3delta40 mutation.

Analysis of the glucocerebrosidase gene in Parkinson's disease.

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.

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

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

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

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

Association studies between the plasmin genes and late-onset Alzheimer's disease.

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

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

Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis.

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

Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease.

Frequent missense and insertion/deletion polymorphisms in the ovine Shadoo gene parallel species-specific variation in PrP.

Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

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

Distinct biochemical signatures characterize peripherin isoform expression in both traumatic neuronal injury and motor neuron disease.

Association between variants in IDE-KIF11-HHEX and plasma amyloid β levels.

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).

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

Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4.

Family reunion--the ZIP/prion gene family.

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

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

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

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

Genetics and genomics of late-onset Alzheimer's disease and its endophenotypes.

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

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

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

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

Large-scale replication and heterogeneity in Parkinson disease genetic loci.

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

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

Investigation of C9orf72 in 4 Neurodegenerative Disorders.

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

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

TREM2 variants in Alzheimer's disease.

Segmental duplications in genome-wide significant loci and housekeeping genes; warning for GAPDH and ACTB.

Role of p73 in Alzheimer disease: lack of association in mouse models or in human cohorts.

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

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

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

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

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

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

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

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

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

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

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

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

Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

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

Identical twins with the C9orf72 repeat expansion are discordant for ALS.

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

Coding mutations in SORL1 and Alzheimer disease.

Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease.

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

Convergent genetic and expression data implicate immunity in Alzheimer's disease.

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

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

Low molecular weight species of TDP-43 generated by abnormal splicing form inclusions in amyotrophic lateral sclerosis and result in motor neuron death.

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

Drug repositioning for diabetes based on 'omics' data mining.

Jump from pre-mutation to pathologic expansion in C9orf72.

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

Mutation analysis of C9orf72 in patients with corticobasal syndrome.

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

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

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

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

MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis.

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.

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

Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina.

Novel GRN Mutations in Patients with Corticobasal Syndrome.

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration.

Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28.

Genetic Variations in ABCA7 Can Increase Secreted Levels of Amyloid-β40 and Amyloid-β42 Peptides and ABCA7 Transcription in Cell Culture Models.

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Does BDNF Val66Met contribute to preclinical Alzheimer's disease?

Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations.

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.

Drug Repositioning for Alzheimer's Disease Based on Systematic 'omics' Data Mining.

Heart rate variability in leucine-rich repeat kinase 2-associated Parkinson's disease.

A ZIP6-ZIP10 heteromer controls NCAM1 phosphorylation and integration into focal adhesion complexes during epithelial-to-mesenchymal transition.

Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease.

C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.

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

DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients.

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

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

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

Time-course global proteome analyses reveal an inverse correlation between Aβ burden and immunoglobulin M levels in the APPNL-F mouse model of Alzheimer disease.

Ultra-rare mutations insegregate in Caribbean Hispanic families with Alzheimer disease.

Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis.

Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis.

Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations.

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

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.

Unaffected mosaiccase: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.

An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk.

Actigraphy Detects Greater Intra-Individual Variability During Gait in Non-Manifesting LRRK2 Mutation Carriers.

Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy.

Clinical Reasoning: A 42-year-old man with unilateral leg weakness.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.