List of works - Maura Brunetti

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

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

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

Asymptotic evolution of nonlinear landau damping

scientific article published on 01 September 2000

Attractors and bifurcation diagrams in complex climate models

scientific article published in 2023

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

scientific article

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

scientific article published on 25 April 2014

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study

scientific article published on 25 March 2017

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

scientific article published on 27 December 2013

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

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

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 association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

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

scientific article published on 18 June 2015

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

scientific article

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia

scientific article published on 18 June 2016

Quantitative analysis of self-organized patterns in ombrotrophic peatlands

scientific article published in Scientific Reports

Recurrence in the high-order nonlinear Schrödinger equation: A low-dimensional analysis

scientific article published on 26 July 2017

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

scientific article published on 9 April 2016

The Role of APOE in the Occurrence of Frontotemporal Dementia in Amyotrophic Lateral Sclerosis

scientific article

The multistep hypothesis of ALS revisited: The role of genetic mutations

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 Maura Brunetti

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

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

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

Asymptotic evolution of nonlinear landau damping

Attractors and bifurcation diagrams in complex climate models

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS 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 correlates in amyotrophic lateral sclerosis: a population-based study in Italy

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study

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

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Exome sequencing reveals VCP mutations as a cause of familial ALS

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

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 association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

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

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

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia

Quantitative analysis of self-organized patterns in ombrotrophic peatlands

Recurrence in the high-order nonlinear Schrödinger equation: A low-dimensional analysis

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

The Role of APOE in the Occurrence of Frontotemporal Dementia in Amyotrophic Lateral Sclerosis

The multistep hypothesis of ALS revisited: The role of genetic mutations

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