List of works - Amalia Bruni

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

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

scientific article

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

scientific article published on 11 October 2017

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

scientific article published in January 2011

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

scientific article published in June 2003

Association studies between the plasmin genes and late-onset Alzheimer's disease

scientific article

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

scientific article

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

scientific article published on 17 September 2020

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

scientific article

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

scientific article

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

scientific article published on 23 January 2017

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

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

scientific article published on 6 May 2015

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

scientific article published on 6 June 2014

Influence of controlled encoding and retrieval facilitation on memory performance in patients with different profiles of mild cognitive impairment

scientific article

Investigation of c9orf72 in 4 neurodegenerative disorders

scientific article published on December 2012

Mutation analysis of CHCHD10 in different neurodegenerative diseases

scientific article published on 31 March 2015

Nicastrin gene in familial and sporadic Alzheimer's disease

scientific article

Position paper of the Italian Society for the study of Dementias (SINDEM) on the proposal of a new lexicon on Alzheimer disease

scientific article

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

scientific article

Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population

scientific article published on 6 September 2006

Tau Mutations Serve as a Novel Risk Factor for Cancer

scientific article published on 24 May 2018

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

scientific article

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

scientific article

List of works by Amalia Bruni

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

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

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

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

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

Association studies between the plasmin genes and late-onset Alzheimer's disease

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

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

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.

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

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

Influence of controlled encoding and retrieval facilitation on memory performance in patients with different profiles of mild cognitive impairment

Investigation of c9orf72 in 4 neurodegenerative disorders

Mutation analysis of CHCHD10 in different neurodegenerative diseases

Nicastrin gene in familial and sporadic Alzheimer's disease

Position paper of the Italian Society for the study of Dementias (SINDEM) on the proposal of a new lexicon on Alzheimer disease

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-1 mutation E318G and familial Alzheimer's disease in the Italian population

Tau Mutations Serve as a Novel Risk Factor for Cancer

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

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease