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

TARDBP p.I383V, a recurrent alteration in Greek FTD patients.

Journal of the neurological sciences - 15 Sept 2021

Charoniti Eirini, Papastefanopoulou Vasiliki, Florou-Hatziyiannidou Chryseis, Koros Christos, Stanitsa Evangelia, Papatriantafyllou John D, Papageorgiou Sokratis G, Kroupis Christos

Abstract excerpt

BACKGROUND: A significant proportion of FTD (Frontotemporal Degeneration) cases can be attributed to mutations in major genes such as GRN, MAPT and C9orf72. Our previous report on a Greek FTD cohort revealed the presence of the single nucleotide polymorphism (SNP) p.I383V (rs80356740) in the TARDBP gene in three unrelated patients. Our objective was to develop a novel, fast and accurate method for the detection...

Read the complete abstract on PubMed

Topics

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

Share to Biological Assay

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Frontotemporal Dementia

Share to Greece

Share to Mutation

Source

Identifiers

PMID: 34271284
DOI: 10.1016/j.jns.2021.117566

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

TARDBP p.I383V, a recurrent alteration in Greek FTD patients.PMID 34271284Read ↗

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTDSemantic proximity Read ↗

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling.Semantic proximity Read ↗

TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.Semantic proximity Read ↗

TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy.Semantic proximity Read ↗

Genotype-phenotype links in frontotemporal lobar degeneration.Semantic proximity Read ↗

Frequency of frontotemporal dementia-related gene variants in Turkey.Semantic proximity Read ↗

Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.Semantic proximity Read ↗

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.Semantic proximity Read ↗

TARDBP variants in Taiwanese ALS patients: Genetic spectrum, clinical features, and founder effects.Semantic proximity Read ↗

Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity.Semantic proximity Read ↗

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

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.Semantic proximity Read ↗

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