List of works - Livia Bernardi

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

scientific article

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

scientific article published in January 2011

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

scientific article published in January 2009

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

scientific article published in February 2004

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

scientific article

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

scientific article published on January 2014

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.

scientific article

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

scientific article

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.

scientific article published on 23 January 2017

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

scientific article published on 20 July 2012

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

scientific article published on 12 April 2013

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

scientific article published in January 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 6 May 2015

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

scientific article published in January 2014

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

scientific article

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

scientific article published on 01 January 2011

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

scientific article published on 19 September 2009

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

scientific article published on 7 March 2008

P1-303

P1-319

P3-193

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

scientific article published on 07 March 2007

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

scientific article

Role of Niemann-Pick Type C Disease Mutations in Dementia

scientific article published on 24 October 2016

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

scientific article published in January 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.

scientific article published on 27 April 2017

List of works by 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.