Lista de obras - Celeste M Karch - Dominio Público Uruguay

A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies

scientific article published on 17 October 2019

A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy

scientific article published on 01 March 2019

A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis.

artículo científico publicado en 2008

A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer's disease

artículo científico publicado en 2020

Aggregation modulating elements in mutant human superoxide dismutase 1.

artículo científico publicado en 2010

Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.

artículo científico publicado en 2016

Alzheimer's disease genetics: from the bench to the clinic

artículo científico publicado en 2014

Alzheimer's disease risk genes and mechanisms of disease pathogenesis

artículo científico publicado en 2014

An Efficient Platform for Astrocyte Differentiation from Human Induced Pluripotent Stem Cells

artículo científico publicado en 2017

An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations

artículo científico publicado en 2019

An examination of alpha B-crystallin as a modifier of SOD1 aggregate pathology and toxicity in models of familial amyotrophic lateral sclerosis.

artículo científico publicado en 2010

Ascertaining perturbations in microglial expression profiles using single‐nuclei RNA‐seq from human brains

artículo científico publicado en 2020

Association of Longitudinal Changes in Cerebrospinal Fluid Total Tau and Phosphorylated Tau 181 and Brain Atrophy With Disease Progression in Patients With Alzheimer Disease

scientific article published on 02 December 2019

Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN)

scientific article published on 01 January 2020

BKCa channel regulates calcium oscillations induced by alpha-2-macroglobulin in human myometrial smooth muscle cells

artículo científico publicado en 2016

Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer's disease

artículo científico publicado en 2020

CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline

scholarly article by Marc Suárez-Calvet et al published December 2018 in EMBO Molecular Medicine

CXCR4 involvement in neurodegenerative diseases

artículo científico publicado en 2018

Calcium phosphatase calcineurin influences tau metabolism

scientific article published on 06 June 2012

Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease

artículo científico publicado en 2019

Coding variants in TREM2 increase risk for Alzheimer's disease

artículo científico publicado en 2014

Comparing cortical signatures of atrophy between late-onset and autosomal dominant Alzheimer disease

artículo científico publicado en 2020

Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

artículo científico publicado en 2018

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

artículo científico publicado en 2018

Discovery and validation of autosomal dominant Alzheimer's disease mutations

artículo científico publicado en 2018

Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer's disease

scientific article published on 09 November 2018

Early increase of CSF sTREM2 in Alzheimer's disease is associated with tau related-neurodegeneration but not with amyloid-β pathology

artículo científico publicado en 2019

Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains

artículo científico publicado en 2012

Extracellular Tau levels are influenced by variability in Tau that is associated with tauopathies

artículo científico publicado en 2012

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

artículo científico publicado en 2011

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

artículo científico publicado en 2013

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

artículo científico publicado en 2016

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

artículo científico publicado en 2017

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

artículo científico publicado en 2018

Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation

artículo científico publicado en 2014

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

artículo científico publicado en 2018

Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.

artículo científico publicado en 2009

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

artículo científico publicado en 2018

Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP

artículo científico publicado en 2018

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

artículo científico publicado en 2017

Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy

artículo científico publicado en 2021

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

artículo científico publicado en 2015

Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms

artículo científico publicado en 2016

Novel progranulin variants do not disrupt progranulin secretion and cleavage

artículo científico publicado en 2013

Pathogenic Tau Impairs Axon Initial Segment Plasticity and Excitability Homeostasis

artículo científico publicado en 2019

Polygenic hazard score: an enrichment marker for Alzheimer's associated amyloid and tau deposition

artículo científico publicado en 2017

Predicting sporadic Alzheimer's disease progression via inherited Alzheimer's disease-informed machine-learning

scientific article published on 11 February 2020

RAB10: an Alzheimer's disease resilience locus and potential drug target

scholarly article by Justina P Tavana et al published 2019 in Clinical Interventions in Aging

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

artículo científico publicado en 2014

Receptor-associated protein (RAP) plays a central role in modulating Abeta deposition in APP/PS1 transgenic mice

artículo científico publicado en 2008

Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex

scientific article published in Scientific Reports

Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS

scholarly article

SILK studies - capturing the turnover of proteins linked to neurodegenerative diseases

scientific article published on 20 June 2019

Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening

artículo científico publicado en 2017

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

artículo científico publicado en 2018

Serum neurofilament light chain levels are associated with white matter integrity in autosomal dominant Alzheimer's disease

scientific article published on 06 June 2020

Single-subject grey matter network trajectories over the disease course of autosomal dominant Alzheimer's disease

scientific article published on 15 July 2020

Single‐nuclei RNA‐seq of brains carriers of high‐risk variants and Mendelian mutations

artículo científico publicado en 2020

Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation

scientific article published on 06 July 2005

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2

artículo científico publicado en 2020

TFEB regulates lysosomal exocytosis of tau and its loss of function exacerbates tau pathology and spreading

artículo científico publicado en 2020

Tau Kinetics in Neurons and the Human Central Nervous System

artículo científico publicado en 2018

Tau Kinetics in Neurons and the Human Central Nervous System

scientific article published on 01 May 2018

The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease

scientific article published on 21 March 2019

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk

scientific article published on 01 August 2019

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

artículo científico publicado en 2013

The relevance of cerebrospinal fluid α-synuclein levels to sporadic and familial Alzheimer's disease

scholarly article by Daniel Twohig et al published 26 November 2018 in Acta neuropathologica communications

Utility of perfusion PET measures to assess neuronal injury in Alzheimer's disease

artículo científico publicado en 2018

White matter diffusion alterations precede symptom onset in autosomal dominant Alzheimer's disease

article by Miguel Ángel Araque Caballero et al published 1 October 2018 in Brain

Lista de obras de Celeste M Karch

A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies

A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy

A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis.

A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer's disease

Aggregation modulating elements in mutant human superoxide dismutase 1.

Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.

Alzheimer's disease genetics: from the bench to the clinic

Alzheimer's disease risk genes and mechanisms of disease pathogenesis

An Efficient Platform for Astrocyte Differentiation from Human Induced Pluripotent Stem Cells

An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations

An examination of alpha B-crystallin as a modifier of SOD1 aggregate pathology and toxicity in models of familial amyotrophic lateral sclerosis.

Ascertaining perturbations in microglial expression profiles using single‐nuclei RNA‐seq from human brains

Association of Longitudinal Changes in Cerebrospinal Fluid Total Tau and Phosphorylated Tau 181 and Brain Atrophy With Disease Progression in Patients With Alzheimer Disease

Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN)

BKCa channel regulates calcium oscillations induced by alpha-2-macroglobulin in human myometrial smooth muscle cells

Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer's disease

CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline

CXCR4 involvement in neurodegenerative diseases

Calcium phosphatase calcineurin influences tau metabolism

Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease

Coding variants in TREM2 increase risk for Alzheimer's disease

Comparing cortical signatures of atrophy between late-onset and autosomal dominant Alzheimer disease

Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

Discovery and validation of autosomal dominant Alzheimer's disease mutations

Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer's disease

Early increase of CSF sTREM2 in Alzheimer's disease is associated with tau related-neurodegeneration but not with amyloid-β pathology

Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains

Extracellular Tau levels are influenced by variability in Tau that is associated with tauopathies

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms

Novel progranulin variants do not disrupt progranulin secretion and cleavage

Pathogenic Tau Impairs Axon Initial Segment Plasticity and Excitability Homeostasis

Polygenic hazard score: an enrichment marker for Alzheimer's associated amyloid and tau deposition

Predicting sporadic Alzheimer's disease progression via inherited Alzheimer's disease-informed machine-learning

RAB10: an Alzheimer's disease resilience locus and potential drug target

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

Receptor-associated protein (RAP) plays a central role in modulating Abeta deposition in APP/PS1 transgenic mice

Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex

Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS

SILK studies - capturing the turnover of proteins linked to neurodegenerative diseases

Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

Serum neurofilament light chain levels are associated with white matter integrity in autosomal dominant Alzheimer's disease

Single-subject grey matter network trajectories over the disease course of autosomal dominant Alzheimer's disease

Single‐nuclei RNA‐seq of brains carriers of high‐risk variants and Mendelian mutations

Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2

TFEB regulates lysosomal exocytosis of tau and its loss of function exacerbates tau pathology and spreading

Tau Kinetics in Neurons and the Human Central Nervous System

Tau Kinetics in Neurons and the Human Central Nervous System

The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

The relevance of cerebrospinal fluid α-synuclein levels to sporadic and familial Alzheimer's disease

Utility of perfusion PET measures to assess neuronal injury in Alzheimer's disease

White matter diffusion alterations precede symptom onset in autosomal dominant Alzheimer's disease