Lista de obras - Livia Bernardi - Dominio Público Uruguay

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

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

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

artículo científico publicado en 2008

P1-303

P1-319

P3-193

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Role of Niemann-Pick Type C Disease Mutations in Dementia

artículo científico publicado en 2016

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

artículo científico publicado en 2013

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy

scientific article published on 21 November 2019

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

artículo científico publicado en 2017

Lista de obras de Livia Bernardi

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.

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.

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

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

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

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

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

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

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

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

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

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

P1-303

P1-319

P3-193

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

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

Role of Niemann-Pick Type C Disease Mutations in Dementia

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

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.