Discover Community Create You

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

Article

Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2016

Floris Gianluca, Borghero Giuseppe, Di Stefano Francesca, Melis Rosanna, Puddu Roberta, Fadda Laura, Murru Maria R, Corongiu Daniela, Cuccu Stefania, Tranquilli Stefania, Cannas Antonino, Marrosu Maria G, Chiò Adriano, Marrosu Francesco

Abstract excerpt

We investigated intrafamilial phenotypic variability in carriers of the C9orf72 mutation, analysing clinical, neuropsychological and imaging characteristics of various members from a large Sardinian kindred with FTD or ALS. We compared these with those of C9 + patients in our ALS and FTD cohorts. Results showed that three patients carried the C9orf72 mutation: two with ALS and one with FTD and Parkinsonism....

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Frontotemporal Dementia

Share to Magnetic Resonance Imaging

Share to Parkinsonian Disorders

Share to tau Proteins

Source

Identifiers

PMID: 26575405
DOI: 10.3109/21678421.2015.1111904

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.PMID 26575405Read ↗

Genetic architecture of ALS in Sardinia.Semantic proximity Read ↗

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

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

Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.Semantic proximity Read ↗

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.Semantic proximity Read ↗

Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.Semantic proximity Read ↗

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

Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability.Semantic proximity Read ↗

Clinical genetic analysis of Parkinson's disease in the contursi kindredSemantic proximity Read ↗

Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.Semantic proximity Read ↗

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.Semantic proximity Read ↗

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion.Semantic proximity Read ↗

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