Ekaterina Rogaeva

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 41	2018

Other Publications

Article	Year
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC neurology\| PubMed ID: 17166276	2006
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology\| PubMed ID: 11524469	2001
Genetic markers in the diagnosis of Alzheimer's disease. Journal of Alzheimer's disease : JAD\| PubMed ID: 12214050	2001
The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease. Neuromolecular medicine\| PubMed ID: 12230301	2002
Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles. Journal of neurochemistry\| PubMed ID: 12859671	2003
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. Neurology\| PubMed ID: 14557582	2003
Clinical findings in a large family with a parkin ex3delta40 mutation. Archives of neurology\| PubMed ID: 15148147	2004
Analysis of the glucocerebrosidase gene in Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 15517592	2005
Genetic association study of PINK1 coding polymorphisms in Parkinson's disease. Neuroscience letters\| PubMed ID: 15542245	2004
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives of neurology\| PubMed ID: 15596610	2004
Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. The Journal of biological chemistry\| PubMed ID: 16079129	2005
Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. Neuroscience letters\| PubMed ID: 16157450	2006
TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity. Nature\| PubMed ID: 16641999	2006
Association studies between the plasmin genes and late-onset Alzheimer's disease. Neurobiology of aging\| PubMed ID: 16828203	2007
Genetic complexity of Alzheimer's disease: successes and challenges. Journal of Alzheimer's disease : JAD\| PubMed ID: 16914876	2006
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature genetics\| PubMed ID: 17220890	2007
Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis. Neurobiology of aging\| PubMed ID: 17383054	2008
Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease. Neurogenetics\| PubMed ID: 17940814	2008
Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease. Neurogenetics\| PubMed ID: 18340469	2008
Frequent missense and insertion/deletion polymorphisms in the ovine Shadoo gene parallel species-specific variation in PrP. PloS one\| PubMed ID: 19657386	2009
Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis. Annals of neurology\| PubMed ID: 19670443	2009
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. The New England journal of medicine\| PubMed ID: 19846850	2009
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain : a journal of neurology\| PubMed ID: 20110243	2010
Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the familial form. Acta neuropathologica\| PubMed ID: 20111867	2010
Distinct biochemical signatures characterize peripherin isoform expression in both traumatic neuronal injury and motor neuron disease. Journal of neurochemistry\| PubMed ID: 20533992	2010
Association between variants in IDE-KIF11-HHEX and plasma amyloid β levels. Neurobiology of aging\| PubMed ID: 20724036	2012
Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN). Journal of Alzheimer's disease : JAD\| PubMed ID: 20930269	2010
Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. Archives of neurology\| PubMed ID: 21059989	2011
Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4. Alzheimer's research & therapy\| PubMed ID: 21062519	2010
Family reunion--the ZIP/prion gene family. Progress in neurobiology\| PubMed ID: 21163327	2011
Meta-analysis of the association between variants in SORL1 and Alzheimer disease. Archives of neurology\| PubMed ID: 21220680	2011
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk. Annals of neurology\| PubMed ID: 21280075	2011
RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS. Molecular and cellular neurosciences\| PubMed ID: 21421050	2011
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature genetics\| PubMed ID: 21460841	2011
Genetics and genomics of late-onset Alzheimer's disease and its endophenotypes. International journal of Alzheimer's disease\| PubMed ID: 21660206	2011
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron\| PubMed ID: 21944779	2011
Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk. Molecular neurodegeneration\| PubMed ID: 22248099	2012
Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda, Md.)\| PubMed ID: 22384383	2012
LIV-1 ZIP ectodomain shedding in prion-infected mice resembles cellular response to transition metal starvation. Journal of molecular biology\| PubMed ID: 22687393	2012
Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology\| PubMed ID: 22786590	2012
Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy. Neurobiology of aging\| PubMed ID: 22819134	2012
Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism. Neurobiology of aging\| PubMed ID: 22819390	2012
Investigation of C9orf72 in 4 Neurodegenerative Disorders. Archives of neurology\| PubMed ID: 22964832	2012
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology\| PubMed ID: 22972638	2012
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Journal of medical genetics\| PubMed ID: 23125461	2012
TREM2 variants in Alzheimer's disease. The New England journal of medicine\| PubMed ID: 23150934	2013
Segmental duplications in genome-wide significant loci and housekeeping genes; warning for GAPDH and ACTB. Neurobiology of aging\| PubMed ID: 23238109	2013
Role of p73 in Alzheimer disease: lack of association in mouse models or in human cohorts. Molecular neurodegeneration\| PubMed ID: 23414597	2013
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA neurology\| PubMed ID: 23588557	2013
Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. American journal of human genetics\| PubMed ID: 23731538	2013
Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity. JAMA neurology\| PubMed ID: 23978990	2013
Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA neurology\| PubMed ID: 24018986	2013
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature genetics\| PubMed ID: 24162737	2013
Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not. Experimental neurology\| PubMed ID: 24246281	2014
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature\| PubMed ID: 24336208	2014
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature neuroscience\| PubMed ID: 24686783	2014
Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients. Human molecular genetics\| PubMed ID: 24908669	2014
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PloS one\| PubMed ID: 24922517	2014
Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology\| PubMed ID: 24943344	2014
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Human molecular genetics\| PubMed ID: 24973356	2014
Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiology of aging\| PubMed ID: 25174650	2015
Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA neurology\| PubMed ID: 25199842	2014
Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology\| PubMed ID: 25209579	2014
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain : a journal of neurology\| PubMed ID: 25261972	2014
Coding mutations in SORL1 and Alzheimer disease. Annals of neurology\| PubMed ID: 25382023	2015
Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 25394174	2015
Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA neurology\| PubMed ID: 25531812	2015
Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association\| PubMed ID: 25533204	2015
Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis. The Lancet. Neurology\| PubMed ID: 25662776	2015
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients. Acta neuropathologica\| PubMed ID: 25716178	2015
Low molecular weight species of TDP-43 generated by abnormal splicing form inclusions in amyotrophic lateral sclerosis and result in motor neuron death. Acta neuropathologica\| PubMed ID: 25788357	2015
Mutation analysis of CHCHD10 in different neurodegenerative diseases. Brain : a journal of neurology\| PubMed ID: 25833818	2015
Drug repositioning for diabetes based on 'omics' data mining. PloS one\| PubMed ID: 25946000	2015
Jump from pre-mutation to pathologic expansion in C9orf72. American journal of human genetics\| PubMed ID: 26004200	2015
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci. Annals of neurology\| PubMed ID: 26101835	2015
Mutation analysis of C9orf72 in patients with corticobasal syndrome. Neurobiology of aging\| PubMed ID: 26166205	2015
Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis. Annals of neurology\| PubMed ID: 26174152	2015
The Prion Protein Controls Polysialylation of Neural Cell Adhesion Molecule 1 during Cellular Morphogenesis. PloS one\| PubMed ID: 26288071	2015
F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease. Annals of clinical and translational neurology\| PubMed ID: 26339675	2015
Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA neurology\| PubMed ID: 26366463	2015
MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis. Brain : a journal of neurology\| PubMed ID: 26525917	2016
Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease. Neurobiology of aging\| PubMed ID: 26639156	2016
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiology of aging\| PubMed ID: 26643944	2016
Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina. Neurobiology of aging\| PubMed ID: 26925510	2016
Novel GRN Mutations in Patients with Corticobasal Syndrome. Scientific reports\| PubMed ID: 26961809	2016
Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set. Neurobiology of aging\| PubMed ID: 27084067	2016
C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration. Brain research\| PubMed ID: 27134035	2016
Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28. Journal of neurology, neurosurgery, and psychiatry\| PubMed ID: 27154192	2016
Genetic Variations in ABCA7 Can Increase Secreted Levels of Amyloid-β40 and Amyloid-β42 Peptides and ABCA7 Transcription in Cell Culture Models. Journal of Alzheimer's disease : JAD\| PubMed ID: 27314524	2016
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of aging\| PubMed ID: 27666590	2016
Does BDNF Val66Met contribute to preclinical Alzheimer's disease? Brain : a journal of neurology\| PubMed ID: 27671028	2016
Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations. Alzheimer's & dementia : the journal of the Alzheimer's Association\| PubMed ID: 27743520	2017
Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells. Stem cell reports\| PubMed ID: 27773700	2016
Drug Repositioning for Alzheimer's Disease Based on Systematic 'omics' Data Mining. PloS one\| PubMed ID: 28005991	2016
Heart rate variability in leucine-rich repeat kinase 2-associated Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 28071824	2017
A ZIP6-ZIP10 heteromer controls NCAM1 phosphorylation and integration into focal adhesion complexes during epithelial-to-mesenchymal transition. Scientific reports\| PubMed ID: 28098160	2017
Genetic analysis of CHCHD2 and CHCHD10 in Italian patients with Parkinson's disease. Neurobiology of aging\| PubMed ID: 28108040	2017
C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 28124431	2017
Collagenosis of the Deep Medullary Veins: An Underrecognized Pathologic Correlate of White Matter Hyperintensities and Periventricular Infarction? Journal of neuropathology and experimental neurology\| PubMed ID: 28431180	2017
DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients. Acta neuropathologica\| PubMed ID: 28439722	2017
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of aging\| PubMed ID: 28602509	2017
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature genetics\| PubMed ID: 28714976	2017
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron\| PubMed ID: 28817800	2017
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. PloS one\| PubMed ID: 28832675	2017
Ultra-rare mutations insegregate in Caribbean Hispanic families with Alzheimer disease. Neurology. Genetics\| PubMed ID: 28852706	2017
Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis. Neurology\| PubMed ID: 28916533	2017
Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis. Human molecular genetics\| PubMed ID: 28973294	2017
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS. Human molecular genetics\| PubMed ID: 29121267	2018
Clinical and neuropathological features of ALS/FTD with TIA1 mutations. Acta neuropathologica communications\| PubMed ID: 29216908	2017
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. The Lancet. Neurology\| PubMed ID: 29263008	2018
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration. NPJ genomic medicine\| PubMed ID: 29263818	2016
Unaffected mosaiccase: RNA foci, dipeptide proteins, but upregulated C9orf72 expression. Neurology\| PubMed ID: 29282338	2018
An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk. Neurobiology of aging\| PubMed ID: 29395286	2018
Actigraphy Detects Greater Intra-Individual Variability During Gait in Non-Manifesting LRRK2 Mutation Carriers. Journal of Parkinson's disease\| PubMed ID: 29480219	2018
Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy. Neurobiology of aging\| PubMed ID: 29519717	2018
Clinical Reasoning: A 42-year-old man with unilateral leg weakness. Neurology\| PubMed ID: 29555890	2018
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron\| PubMed ID: 29566793	2018