Lista de obras - Luisa Benussi - Dominio Público Uruguay

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

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

artículo científico publicado en 2016

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

artículo científico publicado en 2015

A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia

artículo científico publicado en 2011

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

artículo científico publicado en 2006

A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia

artículo científico publicado en 2017

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.

artículo científico publicado en 2011

A window into the heterogeneity of human cerebrospinal fluid Aβ peptides

artículo científico publicado en 2011

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Altered Expression of Circulating Cdc42 in Frontotemporal Lobar Degeneration.

artículo científico publicado en 2018

Alzheimer disease-associated cystatin C variant undergoes impaired secretion

artículo científico publicado en 2003

An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease

artículo científico publicado en 2011

Analysis of alpha-2-macroglobulin-2 allele as a risk factor in Alzheimer's disease.

artículo científico publicado en 2001

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

artículo científico publicado en 2017

Apolipoprotein E and alpha brain rhythms in mild cognitive impairment: a multicentric electroencephalogram study.

artículo científico publicado en 2006

Areas of intervention for genetic counselling of dementia: cross-cultural comparison between Italians and Americans

artículo científico publicado en 2006

Association of blood pressure and genetic background with white matter lesions in patients with mild cognitive impairment.

artículo científico publicado en 2008

Atypical dementia associated with a novel presenilin-2 mutation

artículo científico publicado en 2003

BACE-2 is overexpressed in Down's syndrome.

artículo científico publicado en 2003

BAG1 is a Protective Factor for Sporadic Frontotemporal Lobar Degeneration but not for Alzheimer's Disease

scientific article published on 01 January 2011

Biological factors and age-dependence of primary motor cortex experimental plasticity

artículo científico publicado en 2015

Blockade of the tumor necrosis factor-related apoptosis inducing ligand death receptor DR5 prevents beta-amyloid neurotoxicity.

artículo científico publicado en 2006

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

artículo científico publicado en 2015

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study

artículo científico publicado en 2014

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

artículo científico publicado en 2013

CCL8/MCP-2 association analysis in patients with Alzheimer's disease and frontotemporal lobar degeneration

artículo científico publicado en 2009

Cerebrospinal fluid biomarkers for Alzheimer's disease: the present and the future.

scientific article published on 25 June 2011

Cerebrospinal fluid biomarkers in Progranulin mutations carriers

artículo científico publicado en 2011

Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer's disease

artículo científico publicado en 2009

Combined mass quantitation and phenotyping of intact extracellular vesicles by a microarray platform

artículo científico publicado en 2015

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

artículo científico publicado en 2017

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

artículo científico publicado en 2021

Conformational targeting of intracellular Aβ oligomers demonstrates their pathological oligomerization inside the endoplasmic reticulum.

artículo científico publicado en 2014

Copper dyshomeostasis in Wilson disease and Alzheimer's disease as shown by serum and urine copper indicators.

artículo científico publicado en 2017

Cystatin C is released in association with exosomes: a new tool of neuronal communication which is unbalanced in Alzheimer's disease.

artículo científico publicado en 2009

DCUN1D1 is a risk factor for frontotemporal lobar degeneration.

artículo científico publicado en 2009

Decreased plasma levels of soluble receptor for advanced glycation end products in mild cognitive impairment.

artículo científico publicado en 2008

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

artículo científico publicado en 2017

Depletion of Progranulin Reduces GluN2B-Containing NMDA Receptor Density, Tau Phosphorylation, and Dendritic Arborization in Mouse Primary Cortical Neurons

artículo científico publicado en 2017

Detection of the presenilin 1 COOH-terminal fragment in the extracellular compartment: a release enhanced by apoptosis

scientific journal article

Digital Detection of Exosomes by Interferometric Imaging

artículo científico publicado en 2016

Distinct cerebrospinal fluid amyloid-beta peptide signatures in cognitive decline associated with Alzheimer's disease and schizophrenia.

artículo científico publicado en 2012

Effect of energy shortage and oxidative stress on amyloid precursor protein metabolism in COS cells.

artículo científico publicado en 1997

Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter

artículo científico publicado en 2008

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

artículo científico publicado en 2017

Effects of donepezil, galantamine and rivastigmine in 938 Italian patients with Alzheimer's disease: a prospective, observational study

artículo científico publicado en 2010

Effects of estrogens on cognition and brain morphology: involvement of the cerebellum.

artículo científico publicado en 2005

Effects of hormone therapy on brain morphology of healthy postmenopausal women: a Voxel-based morphometry study.

artículo científico publicado en 2006

Energy metabolism inhibition impairs amyloid precursor protein secretion from Alzheimer's fibroblasts.

artículo científico publicado en 1999

Estimating the age of the most common Italian GRN mutation: walking back to Canossa times

artículo científico publicado en 2013

Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease

artículo científico publicado en 2010

Exosomes: the Trojan horses of neurodegeneration.

artículo científico publicado en 2008

Expression of A2V-mutated Aβ in Caenorhabditis elegans results in oligomer formation and toxicity

artículo científico publicado en 2013

Extracellular vesicles in Alzheimer's disease: friends or foes? Focus on aβ-vesicle interaction

artículo científico publicado en 2015

FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration

scientific article published on 01 January 2010

Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients

artículo científico publicado en 2010

Free copper distinguishes mild cognitive impairment subjects from healthy elderly individuals

artículo científico publicado en 2011

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

artículo científico publicado en 2014

GRN variability contributes to sporadic frontotemporal lobar degeneration

artículo científico publicado en 2010

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

artículo científico publicado en 2016

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

artículo científico publicado en 2015

Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration

artículo científico publicado en 2012

Genotype (cystatin C) and EEG phenotype in Alzheimer disease and mild cognitive impairment: a multicentric study

artículo científico publicado en 2005

H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers.

artículo científico publicado en 2008

HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans.

artículo científico publicado en 2009

Homocysteine and electroencephalographic rhythms in Alzheimer disease: a multicentric study.

artículo científico publicado en 2007

Implications of metal exposure and liver function in Parkinsonian patients resident in the vicinities of ferroalloy plants

artículo científico publicado en 2009

Inhibition of energy metabolism down-regulates the Alzheimer related presenilin 2 gene.

artículo científico publicado en 2003

Innovative Biomarkers for Alzheimer's Disease: Focus on the Hidden Disease Biomarkers

artículo científico publicado en 2018

Interaction between tau and alpha-synuclein proteins is impaired in the presence of P301L tau mutation.

artículo científico publicado en 2005

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

artículo científico publicado en 2010

JNK plays a key role in tau hyperphosphorylation in Alzheimer's disease models.

artículo científico publicado en 2011

Losing protein in the brain: the case of progranulin.

artículo científico

Loss of Neuroprotective Factors in Neurodegenerative Dementias: The End or the Starting Point?

artículo científico publicado en 2017

Loss of exosomes in progranulin-associated frontotemporal dementia

artículo científico publicado en 2016

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.

artículo científico publicado en 2008

MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels

artículo científico publicado en 2009

Mapping the effect of APOE epsilon4 on gray matter loss in Alzheimer's disease in vivo

artículo científico publicado en 2009

Markers of Alzheimer's disease in a population attending a memory clinic.

artículo científico publicado en 2009

Microglia convert aggregated amyloid-β into neurotoxic forms through the shedding of microvesicles.

scientific article published on 13 December 2013

Mirror Image of the Amyloid-β Species in Cerebrospinal Fluid and Cerebral Amyloid in Alzheimer's Disease

artículo científico publicado en 2015

Molecular Pathways Bridging Frontotemporal Lobar Degeneration and Psychiatric Disorders

artículo científico publicado en 2016

Molecular subtypes of Alzheimer's disease.

artículo científico publicado en 2018

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

Neuroprotection mediated by cystatin C-loaded extracellular vesicles

scientific article published on 31 July 2019

New insights into the genetic etiology of Alzheimer's disease and related dementias

artículo científico publicado en 2022

Novel T719P AbetaPP mutation unbalances the relative proportion of amyloid-beta peptides.

artículo científico publicado en 2009

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study

artículo científico publicado en 2011

Optimization protocol for amyloid-β peptides detection in human cerebrospinal fluid using SELDI TOF MS.

artículo científico publicado en 2010

PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.

artículo científico publicado en 2016

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

artículo científico publicado en 2020

Pattern of structural and functional brain abnormalities in asymptomatic granulin mutation carriers.

artículo científico publicado en 2014

Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.

artículo científico publicado en 2013

Plasma cystatin C and risk of developing Alzheimer's disease in subjects with mild cognitive impairment.

artículo científico publicado en 2010

Positive Selection of Apoptosis-resistant Cells Correlates with Activation of Dominant-Negative STAT5 ⬇️

artículo científico publicado el 14 de agosto de 1998

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

artículo científico publicado en 2018

Predictors of comprehensive stimulation program efficacy in patients with cognitive impairment. Clinical practice recommendations.

artículo científico publicado en 2012

Presenilin 1 protein directly interacts with Bcl-2

artículo científico publicado en 1999

Presenilin 2 is secreted in mouse primary neurons: a release enhanced by apoptosis.

artículo científico publicado en 2007

Presenilin 2 mutations alter cystatin C trafficking in mouse primary neurons.

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients

article

Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.

artículo científico publicado en 2004

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

artículo científico publicado en 2008

Progranulin Mutations Affects Brain Oscillatory Activity in Fronto-Temporal Dementia.

artículo científico publicado en 2016

Progranulin Mutations are a Common Cause of FTLD in Northern Italy ⬇️

artículo científico publicado el 1 de julio de 2010

Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

artículo científico publicado en 2018

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

artículo científico publicado en 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

artículo científico publicado en 2018

Regional atrophy of transcallosal prefrontal connections in cognitively normal APOE epsilon4 carriers.

artículo científico publicado en 2009

Replication study to confirm the role of CYP2D6 polymorphism rs1080985 on donepezil efficacy in Alzheimer's disease patients.

artículo científico publicado en 2012

Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis.

artículo científico publicado en 2011

Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.

artículo científico publicado en 2011

Secretory leukocyte protease inhibitor protein regulates the penetrance of frontotemporal lobar degeneration in progranulin mutation carriers.

artículo científico publicado en 2014

Serum C-Peptide, Visfatin, Resistin, and Ghrelin are Altered in Sporadic and GRN-Associated Frontotemporal Lobar Degeneration

artículo científico publicado en 2017

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

scientific article published on July 2013

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

artículo científico publicado en 2010

Tau Mutations Serve as a Novel Risk Factor for Cancer

artículo científico publicado en 2018

Tau Rather than TDP-43 Proteins are Potential Cerebrospinal Fluid Biomarkers for Frontotemporal Lobar Degeneration Subtypes: A Pilot Study.

artículo científico publicado en 2016

Tau missing from CSF: a case report.

artículo científico publicado en 2007

The CST3 B haplotype is associated with frontotemporal lobar degeneration.

artículo científico publicado en 2009

The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment.

artículo científico publicado en 2010

The H2 MAPT haplotype is associated with familial frontotemporal dementia.

artículo científico publicado en 2006

The Heritability of Frontotemporal Lobar Degeneration: Validation of Pedigree Classification Criteria in a Northern Italy Cohort.

artículo científico publicado en 2017

The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes

artículo científico publicado en 2019

The SIRT2 polymorphism rs10410544 and risk of Alzheimer's disease in two Caucasian case-control cohorts.

artículo científico publicado en 2012

The level of 24-Hydroxycholesteryl Esters is an Early Marker of Alzheimer's Disease.

artículo científico publicado en 2016

Translational proteomics in Alzheimer's disease and related disorders ⬇️

artículo científico publicado el 23 de octubre de 2012

Value of serum nonceruloplasmin copper for prediction of mild cognitive impairment conversion to Alzheimer disease.

artículo científico publicado en 2014

Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

artículo científico publicado en 2000

Lista de obras de Luisa Benussi

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

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.

A window into the heterogeneity of human cerebrospinal fluid Aβ peptides

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Altered Expression of Circulating Cdc42 in Frontotemporal Lobar Degeneration.

Alzheimer disease-associated cystatin C variant undergoes impaired secretion

An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease

Analysis of alpha-2-macroglobulin-2 allele as a risk factor in Alzheimer's disease.

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

Apolipoprotein E and alpha brain rhythms in mild cognitive impairment: a multicentric electroencephalogram study.

Areas of intervention for genetic counselling of dementia: cross-cultural comparison between Italians and Americans

Association of blood pressure and genetic background with white matter lesions in patients with mild cognitive impairment.

Atypical dementia associated with a novel presenilin-2 mutation

BACE-2 is overexpressed in Down's syndrome.

BAG1 is a Protective Factor for Sporadic Frontotemporal Lobar Degeneration but not for Alzheimer's Disease

Biological factors and age-dependence of primary motor cortex experimental plasticity

Blockade of the tumor necrosis factor-related apoptosis inducing ligand death receptor DR5 prevents beta-amyloid neurotoxicity.

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

CCL8/MCP-2 association analysis in patients with Alzheimer's disease and frontotemporal lobar degeneration

Cerebrospinal fluid biomarkers for Alzheimer's disease: the present and the future.

Cerebrospinal fluid biomarkers in Progranulin mutations carriers

Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer's disease

Combined mass quantitation and phenotyping of intact extracellular vesicles by a microarray platform

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Conformational targeting of intracellular Aβ oligomers demonstrates their pathological oligomerization inside the endoplasmic reticulum.

Copper dyshomeostasis in Wilson disease and Alzheimer's disease as shown by serum and urine copper indicators.

Cystatin C is released in association with exosomes: a new tool of neuronal communication which is unbalanced in Alzheimer's disease.

DCUN1D1 is a risk factor for frontotemporal lobar degeneration.

Decreased plasma levels of soluble receptor for advanced glycation end products in mild cognitive impairment.

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

Depletion of Progranulin Reduces GluN2B-Containing NMDA Receptor Density, Tau Phosphorylation, and Dendritic Arborization in Mouse Primary Cortical Neurons

Detection of the presenilin 1 COOH-terminal fragment in the extracellular compartment: a release enhanced by apoptosis

Digital Detection of Exosomes by Interferometric Imaging

Distinct cerebrospinal fluid amyloid-beta peptide signatures in cognitive decline associated with Alzheimer's disease and schizophrenia.

Effect of energy shortage and oxidative stress on amyloid precursor protein metabolism in COS cells.

Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

Effects of donepezil, galantamine and rivastigmine in 938 Italian patients with Alzheimer's disease: a prospective, observational study

Effects of estrogens on cognition and brain morphology: involvement of the cerebellum.

Effects of hormone therapy on brain morphology of healthy postmenopausal women: a Voxel-based morphometry study.

Energy metabolism inhibition impairs amyloid precursor protein secretion from Alzheimer's fibroblasts.

Estimating the age of the most common Italian GRN mutation: walking back to Canossa times

Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease

Exosomes: the Trojan horses of neurodegeneration.

Expression of A2V-mutated Aβ in Caenorhabditis elegans results in oligomer formation and toxicity

Extracellular vesicles in Alzheimer's disease: friends or foes? Focus on aβ-vesicle interaction

FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration

Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients

Free copper distinguishes mild cognitive impairment subjects from healthy elderly individuals

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

GRN variability contributes to sporadic frontotemporal lobar degeneration

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration

Genotype (cystatin C) and EEG phenotype in Alzheimer disease and mild cognitive impairment: a multicentric study

H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers.

HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans.

Homocysteine and electroencephalographic rhythms in Alzheimer disease: a multicentric study.

Implications of metal exposure and liver function in Parkinsonian patients resident in the vicinities of ferroalloy plants

Inhibition of energy metabolism down-regulates the Alzheimer related presenilin 2 gene.

Innovative Biomarkers for Alzheimer's Disease: Focus on the Hidden Disease Biomarkers

Interaction between tau and alpha-synuclein proteins is impaired in the presence of P301L tau mutation.

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

JNK plays a key role in tau hyperphosphorylation in Alzheimer's disease models.

Losing protein in the brain: the case of progranulin.

Loss of Neuroprotective Factors in Neurodegenerative Dementias: The End or the Starting Point?

Loss of exosomes in progranulin-associated frontotemporal dementia

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.

MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels

Mapping the effect of APOE epsilon4 on gray matter loss in Alzheimer's disease in vivo

Markers of Alzheimer's disease in a population attending a memory clinic.