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

A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations.

Neurobiology of aging - 1 Jan 2017

Coppola Cinzia, Saracino Dario, Puoti Gianfranco, Lus Giacomo, Dato Clemente, Le Ber Isabelle, Pariente Jeremie, Caroppo Paola, Piccoli Elena, Tagliavini Fabrizio, Di Iorio Giuseppe, Rossi Giacomina

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) is a group of neurodegenerative diseases displaying high clinical, pathologic, and genetic heterogeneity. Several autosomal dominant progranulin (GRN) mutations have been reported, accounting for 5%-10% of FTLD cases worldwide. In this study, we described the clinical characteristics of 7 Italian patients, 5 with a diagnosis of frontotemporal dementia behavioral variant...

Read the complete abstract on PubMed

Topics

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

Share to Founder Effect
Share to Frontotemporal Lobar Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Intercellular Signaling Peptides and Proteins

Share to Multigene Family

Share to Progranulins

Share to Tandem Repeat Sequences

Source

Identifiers

PMID: 27814992
DOI: 10.1016/j.neurobiolaging.2016.10.008

Genes

GRN
CBS

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

A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations.PMID 27814992Read ↗

The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire.Semantic proximity Read ↗

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.Semantic proximity Read ↗

Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.Semantic proximity Read ↗

Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy.Semantic proximity Read ↗

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.Semantic proximity Read ↗

GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases.Semantic proximity Read ↗

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.Semantic proximity Read ↗

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.Semantic proximity Read ↗

Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes.Semantic proximity Read ↗

Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.Semantic proximity Read ↗

Non Fluent Variant of Primary Progressive Aphasia Due to the Novel GRN g.9543delA(IVS3-2delA) Mutation.Semantic proximity Read ↗

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series.Semantic proximity Read ↗

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