Lista de obras -

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 pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

artículo científico publicado en 2011

AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.

artículo científico publicado en 2009

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

artículo científico publicado en 2003

Apolipoprotein(a) null phenotype is related to a delayed age at onset of Alzheimer's disease.

artículo científico publicado en 2004

Association between small apolipoprotein(a) isoforms and frontotemporal dementia in humans.

artículo científico publicado en 2003

Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.

artículo científico

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

artículo científico publicado en 2004

COVID-19 vaccine uptake among family caregivers of people with dementia: The role of attitudes toward vaccination, perceived social support and personality traits

artículo científico publicado en 2022

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

artículo científico publicado en 2009

Circulating levels of soluble receptor for advanced glycation end products in Alzheimer disease and vascular dementia.

artículo científico publicado en 2005

Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in southern Italy

artículo científico publicado en 2011

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

scientific article published on 03 February 2011

Contribution of polymorphic variation of inositol hexakisphosphate kinase 3 (IP6K3) gene promoter to the susceptibility to late onset Alzheimer's disease.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

artículo científico publicado en 2013

Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population

artículo científico publicado en 2014

Investigation of c9orf72 in 4 neurodegenerative disorders

artículo científico publicado en 2012

MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism?

artículo científico publicado en 2011

Mutation analysis of CHCHD10 in different neurodegenerative diseases

artículo científico publicado en 2015

NGF controls APP cleavage by downregulating APP phosphorylation at Thr668: relevance for Alzheimer's disease.

artículo científico publicado en 2016

Neurodegenerative clinical records analyzer: detection of recurrent patterns within clinical records towards the identification of typical signs of neurodegenerative disease history ⬇️

scientific article published on Jlis.it in 2023

Nicastrin gene in familial and sporadic Alzheimer's disease

artículo científico publicado en 2003

Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia

artículo científico publicado en 2009

P1-303

P1-319

P3-193

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

Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Relation of apolipoprotein(a) size to alzheimer's disease and vascular dementia.

artículo científico publicado en 2004

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation

artículo científico publicado en 2013

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

artículo científico publicado en 2015

The Genetic Variability of UCP4 Affects the Individual Susceptibility to Late-Onset Alzheimer's Disease and Modifies the Disease's Risk in APOE-ɛ4 Carriers.

artículo científico publicado en 2016

The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring

artículo científico publicado en 2007

Uncoupling protein 4 () gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia

article

Lista de obras de

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

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.

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

Apolipoprotein(a) null phenotype is related to a delayed age at onset of Alzheimer's disease.

Association between small apolipoprotein(a) isoforms and frontotemporal dementia in humans.

Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

COVID-19 vaccine uptake among family caregivers of people with dementia: The role of attitudes toward vaccination, perceived social support and personality traits

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

Circulating levels of soluble receptor for advanced glycation end products in Alzheimer disease and vascular dementia.

Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in southern Italy

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

Contribution of polymorphic variation of inositol hexakisphosphate kinase 3 (IP6K3) gene promoter to the susceptibility to late onset Alzheimer's disease.

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

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

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.

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

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

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

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population

Investigation of c9orf72 in 4 neurodegenerative disorders

MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism?

Mutation analysis of CHCHD10 in different neurodegenerative diseases

NGF controls APP cleavage by downregulating APP phosphorylation at Thr668: relevance for Alzheimer's disease.

Neurodegenerative clinical records analyzer: detection of recurrent patterns within clinical records towards the identification of typical signs of neurodegenerative disease history ⬇️

Nicastrin gene in familial and sporadic Alzheimer's disease

Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia

P1-303

P1-319

P3-193

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

Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease

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

Relation of apolipoprotein(a) size to alzheimer's disease and vascular dementia.

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation

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

The Genetic Variability of UCP4 Affects the Individual Susceptibility to Late-Onset Alzheimer's Disease and Modifies the Disease's Risk in APOE-ɛ4 Carriers.

The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring

Uncoupling protein 4 () gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia