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

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

Journal of Alzheimer's disease : JAD - 6 Sept 2016

Cioffi Sara M G, Galimberti Daniela, Barocco Federica, Spallazzi Marco, Fenoglio Chiara, Serpente Maria, Arcaro Marina, Gardini Simona, Scarpini Elio, Caffarra Paolo

Abstract excerpt

Mutations in progranulin gene (GRN) are a common cause of autosomal dominant frontotemporal lobar degeneration syndromes and are associated with a wide phenotypic heterogeneity. The majority of genetic defects in GRN consists of loss-of-function mutations, causing haploinsufficiency, and is associated with extremely low plasma progranulin levels. Herein, we describe a patient who developed language dysfunctions...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer's disease research and treatments
Share to Amyotrophic Lateral Sclerosis Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aphasia, Primary Progressive

Share to GRN gene

Share to Genetic Variation

Share to Intercellular Signaling Peptides and Proteins

Share to Mutation

Share to Progranulins

Source

Identifiers

PMID: 27567822
DOI: 10.3233/JAD-160185

Genes

GRN

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

Non Fluent Variant of Primary Progressive Aphasia Due to the Novel GRN g.9543delA(IVS3-2delA) Mutation.PMID 27567822Read ↗

One novel GRN null mutation, two different aphasia phenotypes.Semantic proximity Read ↗

Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia.Semantic proximity Read ↗

A mutation in the 5'-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms.Semantic proximity Read ↗

The novel GRN g.1159_1160delTG mutation is associated with behavioral variant frontotemporal dementia.Semantic proximity Read ↗

Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.Semantic proximity Read ↗

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

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

Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration.Semantic proximity Read ↗

Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia.Semantic proximity Read ↗

The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype.Semantic proximity Read ↗

A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features.Semantic proximity Read ↗

Frontotemporal Dementia due to the Novel GRN Arg161GlyfsX36 Mutation.Semantic proximity Read ↗

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