Filtros de búsqueda

Lista de obras de Ekaterina Rogaeva

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

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

artículo científico publicado el 14 de noviembre de 2001

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

artículo científico publicado en 1993

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

artículo científico publicado en 2013

A novel PS1 gene mutation in a large Aboriginal kindred.

artículo científico publicado en 2010

A novel double mutation in FUS gene causing sporadic ALS.

artículo científico publicado en 2010

A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia

article

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

artículo científico publicado en 1999

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population

artículo científico publicado en 2018

APOE-ε4 associates with hippocampal volume, learning, and memory across the spectrum of Alzheimer's disease and dementia with Lewy bodies

scholarly article by Usman Saeed et al published September 2018 in Alzheimer's and Dementia

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

artículo científico publicado en 1998

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

artículo científico publicado en 2003

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

artículo científico publicado en 2007

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

artículo científico publicado en 1998

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

artículo científico publicado en 2010

An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene

artículo científico publicado el 1 de diciembre de 1992

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

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

artículo científico publicado en 2004

Analysis of the glucocerebrosidase gene in Parkinson's disease

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

Benign hereditary chorea: clinical, genetic, and pathological findings

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

artículo científico publicado en 2016

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

artículo científico publicado en 2000

Characterization of the kindred of Alois Alzheimer's patient with plaque-only dementia

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

article

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

artículo científico publicado en 2013

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

artículo científico publicado en 2006

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

artículo científico publicado en 2017

Clinical findings in a large family with a parkin ex3delta40 mutation

artículo científico publicado en 2004

Coding mutations in SORL1 and Alzheimer disease

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation

artículo científico publicado en 2000

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.

artículo científico publicado en 2011

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

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

artículo científico publicado en 2007

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

artículo científico publicado en 2010

Does BDNF Val66Met contribute to preclinical Alzheimer's disease?

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Drug repositioning for diabetes based on 'omics' data mining

artículo científico publicado en 2015

Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis

artículo científico publicado en 2017

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

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 1998

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

artículo científico publicado en 2013

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

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Family reunion--the ZIP/prion gene family

artículo científico publicado en 2010

Fcγ Receptor Polymorphisms Do Not Predict Response to Intravenous Immunoglobulin in Myasthenia Gravis

article

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Genetic Variability in CHMP2B and Frontotemporal Dementia

article

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

artículo científico publicado en 2016

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

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 1992

Genetic markers in the diagnosis of Alzheimer's disease.

artículo científico publicado en 2001

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

artículo científico publicado en 2008

Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis

artículo científico publicado en 2007

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

artículo científico publicado en 2011

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Identical twins with the C9orf72 repeat expansion are discordant for ALS

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Investigation of c9orf72 in 4 neurodegenerative disorders

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Jump from pre-mutation to pathologic expansion in C9orf72.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

article

Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene

artículo científico publicado en 2004

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

artículo científico publicado en 2015

Large-scale replication and heterogeneity in Parkinson disease genetic loci

artículo científico publicado en 2012

Long-term statin therapy and CSF cholesterol levels: implications for Alzheimer's disease.

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.

artículo científico publicado en 1994

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

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

artículo científico publicado en 2013

Mutation analysis of C9orf72 in patients with corticobasal syndrome

artículo científico publicado en 2015

Mutation analysis of CHCHD10 in different neurodegenerative diseases

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes.

artículo científico publicado en 2000

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

artículo científico publicado en 2000

Mutation of the gene for the human lysosomal serine protease cathepsin G is not the cause of aberrant APP processing in familial Alzheimer disease

artículo científico publicado en 1993

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

artículo científico publicado en 2014

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Nicastrin binds to membrane-tethered Notch

artículo científico publicado en 2001

No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found

artículo científico publicado en 2004

Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2000

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

artículo científico publicado en 2006

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Olfactory heterogeneity in LRRK2 related Parkinsonism.

artículo científico publicado en 2010

P4-115 Molecular analysis of the nicastrin promoter SNPS in Alzheimer's disease

scholarly article by Antonio Orlacchio et al published July 2004 in Neurobiology of Aging

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

artículo científico publicado en 2003

Parkin-proven disease: common founders but divergent phenotypes

artículo científico publicado en 2003

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

artículo científico publicado en 1999

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

artículo científico publicado en 1999

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

artículo científico publicado en 2011

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

artículo científico publicado en 2011

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Statins differentially affect amyloid precursor protein metabolism in presymptomatic PS1 and non-PS1 subjects

artículo científico publicado en 2007

T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

TREM2 Variants in Alzheimer's Disease ⬇️

artículo científico publicado el 14 de noviembre de 2012

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

artículo científico publicado en 2018

The APOE-epsilon4 allele and Alzheimer disease among African Americans, Hispanics, and whites

artículo científico publicado en 1998

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado el 26 de junio de 1998

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

artículo científico publicado en 2015

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease

artículo científico publicado en 2017

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

artículo científico publicado en 2017

Unilateral pallidotomy in a patient with parkinsonism and G2019S LRRK2 mutation

artículo científico publicado en 2009

Variant Alzheimer's Disease with Spastic Paraparesis and Supranuclear Gaze Palsy ⬇️

artículo científico publicado el 1 de marzo de 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda