List of works - Giuseppe Borghero

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

scientific article

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

scientific article

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

scientific article published on 8 December 2015

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

scientific article published on 25 June 2015

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

scientific article published on August 2010

Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders?

scientific article published on 13 January 2013

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

scientific article

C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population

scientific article published on 15 August 2015

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

scientific article

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

scientific article published on March 2012

Cognitive screening in patients with amyotrophic lateral sclerosis in early stages

scientific article published on 6 September 2011

Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype

scientific article

Differential effects of phytotherapic preparations in the hSOD1 Drosophila melanogaster model of ALS.

scientific article

EEG functional network topology is associated with disability in patients with amyotrophic lateral sclerosis

scientific article published on 07 December 2016

EEG functional network topology is associated with disability in patients with amyotrophic lateral sclerosis

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study

scientific article published on 16 January 2015

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Exome sequencing reveals VCP mutations as a cause of familial ALS

scientific article

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

scientific article

Genetic architecture of ALS in Sardinia

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

HFE p.H63D polymorphism does not influence ALS phenotype and survival

scientific article published on 18 June 2015

Isolated rapid eye movement sleep without atonia in amyotrophic lateral sclerosis

scientific article published on 11 October 2016

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

scientific article

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

scientific article published on 4 October 2017

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred

scientific article published on 17 November 2015

Progressive apraxia of speech in a patient with a C9orf72 mutation

Protein misfolding, amyotrophic lateral sclerosis and guanabenz: protocol for a phase II RCT with futility design (ProMISe trial).

scientific article published on 11 August 2017

Reversible Pisa syndrome in Parkinson's disease during treatment with pergolide: a case report

scientific article published in September 2005

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

scientific article published on 9 April 2016

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

scientific article published on 2 April 2013

Transient unilateral spatial neglect during aura in a woman with sporadic hemiplegic migraine

scientific article

VGF Protein and Its C-Terminal Derived Peptides in Amyotrophic Lateral Sclerosis: Human and Animal Model Studies

scientific article

List of works by Giuseppe Borghero

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders?

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Cognitive screening in patients with amyotrophic lateral sclerosis in early stages

Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype

Differential effects of phytotherapic preparations in the hSOD1 Drosophila melanogaster model of ALS.

EEG functional network topology is associated with disability in patients with amyotrophic lateral sclerosis

EEG functional network topology is associated with disability in patients with amyotrophic lateral sclerosis

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Exome sequencing reveals VCP mutations as a cause of familial ALS

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

Genetic architecture of ALS in Sardinia

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

HFE p.H63D polymorphism does not influence ALS phenotype and survival

Isolated rapid eye movement sleep without atonia in amyotrophic lateral sclerosis

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred

Progressive apraxia of speech in a patient with a C9orf72 mutation

Protein misfolding, amyotrophic lateral sclerosis and guanabenz: protocol for a phase II RCT with futility design (ProMISe trial).

Reversible Pisa syndrome in Parkinson's disease during treatment with pergolide: a case report

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

Transient unilateral spatial neglect during aura in a woman with sporadic hemiplegic migraine

VGF Protein and Its C-Terminal Derived Peptides in Amyotrophic Lateral Sclerosis: Human and Animal Model Studies