Genetic architecture of ALS in Sardinia.

doi:10.1016/j.neurobiolaging.2014.07.012

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Genetic architecture of ALS in Sardinia.

Neurobiology of aging - 1 Dec 2014

Borghero Giuseppe, Pugliatti Maura, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Floris Gianluca, Cannas Antonino, Parish Leslie D, Occhineri Patrizia, Cau Tea B, Loi Daniela, Ticca Anna, Traccis Sebastiano, Manera Umberto, Canosa Antonio, Moglia Cristina, Calvo Andrea, Barberis Marco, Brunetti Maura, Pliner Hannah A, Renton Alan E, Nalls Mike A, Traynor Bryan J, Restagno Gabriella, Chiò Adriano

Abstract excerpt

Conserved populations, such as Sardinians, displaying elevated rates of familial or sporadic amyotrophic lateral sclerosis (ALS) provide unique information on the genetics of the disease. Our aim was to describe the genetic profile of a consecutive series of ALS patients of Sardinian ancestry. All ALS patients of Sardinian ancestry, identified between 2008 and 2013 through the Italian ALS Genetic Consortium, were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to C9orf72 Protein

Share to DNA Repeat Expansion

Share to Italy

Share to Penetrance

Share to RNA-Binding Protein FUS

Share to Superoxide Dismutase

Share to Superoxide Dismutase-1

Source

Open in PubMed Open full text

Identifiers

PMID: 25123918
DOI: 10.1016/j.neurobiolaging.2014.07.012
PMCID: PMC4252367

Genes

TARDBP
FUS
SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic architecture of ALS in Sardinia.PMID 25123918Read ↗

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.Semantic proximity Read ↗

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.Semantic proximity Read ↗

Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study.Semantic proximity Read ↗

Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.Semantic proximity Read ↗

Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors.Semantic proximity Read ↗

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.Semantic proximity Read ↗

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.Semantic proximity Read ↗

Phenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkey.Semantic proximity Read ↗

Genetic analysis of ALS cases in the isolated island population of Malta.Semantic proximity Read ↗

Genetic landscape of ALS in Malta based on a quinquennial analysis.Semantic proximity Read ↗

High frequency of the <i>TARDBP</i> p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosisSemantic proximity Read ↗

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.