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

The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration.

International journal of molecular sciences - 25 Oct 2022

Rossi Giacomina, Salvi Erika, Benussi Luisa, Mehmeti Elkadia, Geviti Andrea, Bellini Sonia, Longobardi Antonio, Facconi Alessandro, Carrara Matteo, Bonvicini Cristian, Nicsanu Roland, Saraceno Claudia, Ricci Martina, Giaccone Giorgio, Binetti Giuliano, Ghidoni Roberta

Abstract excerpt

Genetic frontotemporal lobar degeneration (FTLD) is characterized by heterogeneous phenotypic expression, with a disease onset highly variable even in patients carrying the same mutation. Herein we investigated if variants in lysosomal genes modulate the age of onset both in FTLD due to GRN null mutations and C9orf72 expansion. In a total of 127 subjects (n = 74 GRN mutations and n = 53 C9orf72 expansion...

Read the complete abstract on PubMed

Topics

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

Share to C9orf72 Protein
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Frontotemporal Dementia

Share to Frontotemporal Lobar Degeneration

Share to Mutation

Share to Progranulins

Share to Protein Kinases

Source

Open in PubMed Open full text

Identifiers

PMID: 36361641
DOI: 10.3390/ijms232112847
PMCID: PMC9656574

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration.PMID 36361641Read ↗

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.Semantic proximity Read ↗

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriersSemantic proximity Read ↗

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association studySemantic proximity Read ↗

Clinical variability and onset age modifiers in an extended Belgian GRN founder familySemantic proximity Read ↗

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.Semantic proximity Read ↗

PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative casesSemantic proximity Read ↗

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.Semantic proximity Read ↗

Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.Semantic proximity Read ↗

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.Semantic proximity Read ↗

Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.Semantic proximity Read ↗

Combined epigenetic/genetic study identified an ALS age of onset modifier.Semantic proximity Read ↗

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