List of works - Gabriella Restagno

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

scientific article

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

scientific article

A genome-wide association study of myasthenia gravis

scientific article published on April 2015

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

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

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

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

scientific article published on 19 December 2014

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

scientific article published on August 2010

An ALS case with a novel D90N-SOD1 heterozygous missense mutation

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

scientific article

Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene

scientific article published in January 2009

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

scientific article published on 12 December 2015

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

Chromosome 9 ALS and FTD locus is probably derived from a single founder

scientific article published on 16 September 2011

Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

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 correlates in amyotrophic lateral sclerosis: a population-based study in Italy

scientific article published on 25 April 2014

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

scientific article published on 27 December 2013

Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene

scientific article published on 01 February 2004

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia

scientific article published on 19 March 2014

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease

scientific article

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Exome sequencing reveals VCP mutations as a cause of familial ALS

scientific article

Extensive genetics of ALS: a population-based study in Italy

scientific article

FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women ⬇️

scientific article published on July 27, 2011

FUS mutations in sporadic amyotrophic lateral sclerosis

scientific article

Fetal DNA detection in maternal plasma throughout gestation

Fetal DNA in Maternal Plasma in Twin Pregnancies

scientific article published on 01 September 2003

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

Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR.

scientific article

Genetic architecture of ALS in Sardinia

scientific article

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

scientific article published on 06 July 2013

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis

scientific article

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

scientific journal article

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

scientific article published on 18 June 2015

Homozygosity analysis in amyotrophic lateral sclerosis

scientific article published on 24 April 2013

Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report.

scientific article

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis

scientific article published on 10 August 2007

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

scientific article

Lab-on-a-chip: Emerging analytical platforms for immune-mediated diseases ⬇️

scientific article published on 06 December 2012

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

scientific article

Low renin-angiotensin system activity gene polymorphism and dysplasia associated with posterior urethral valves.

scientific article

Mutational analysis of the VCP gene in Parkinson's disease

scientific article published on 13 September 2011

Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene

scientific article published on December 2008

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

scientific article published on 26 September 2014

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

scientific article

No evidence of fetal DNA persistence in maternal plasma after pregnancy

article

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia.

scientific article

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

scientific article published in October 2002

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

scientific article

Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes ⬇️

scientific article published on March 6, 2013

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

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

scientific article

The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

scientific article published on 15 May 2009

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

scientific article published on 17 May 2009

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

scientific article

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

scientific article

List of works by Gabriella Restagno

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

A genome-wide association study of myasthenia gravis

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

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

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

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

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

An ALS case with a novel D90N-SOD1 heterozygous missense mutation

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

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

Chromosome 9 ALS and FTD locus is probably derived from a single founder

Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome

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

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Exome sequencing reveals VCP mutations as a cause of familial ALS

Extensive genetics of ALS: a population-based study in Italy

FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women ⬇️

FUS mutations in sporadic amyotrophic lateral sclerosis

Fetal DNA detection in maternal plasma throughout gestation

Fetal DNA in Maternal Plasma in Twin Pregnancies

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?

Further considerations concerning non-invasive prenatal diagnosis of craniosynostosis based on the identification of an 18 bp deletion in the TWIST1 gene by COLD-PCR.

Genetic architecture of ALS in Sardinia

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

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

Homozygosity analysis in amyotrophic lateral sclerosis

Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report.

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

Lab-on-a-chip: Emerging analytical platforms for immune-mediated diseases ⬇️

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

Low renin-angiotensin system activity gene polymorphism and dysplasia associated with posterior urethral valves.

Mutational analysis of the VCP gene in Parkinson's disease

Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

No evidence of fetal DNA persistence in maternal plasma after pregnancy

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia.

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes ⬇️

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

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis