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

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Journal of neurology - 1 Oct 2021

Bartoletti-Stella Anna, Vacchiano Veria, De Pasqua Silvia, Mengozzi Giacomo, De Biase Dario, Bartolomei Ilaria, Avoni Patrizia, Rizzo Giovanni, Parchi Piero, Donadio Vincenzo, Chiò Adriano, Pession Annalisa, Oppi Federico, Salvi Fabrizio, Liguori Rocco, Capellari Sabina

Abstract excerpt

BACKGROUND: 5-10% of amyotrophic lateral sclerosis (ALS) patients presented a positive family history (fALS). More than 30 genes have been identified in association with ALS/frontotemporal dementia (FTD) spectrum, with four major genes accounting for 60-70% of fALS. In this paper, we aimed to assess the contribution to the pathogenesis of major and rare ALS/FTD genes in ALS patients. METHODS: We analyzed ALS and...

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 Amyotrophic Lateral Sclerosis Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Frontotemporal Dementia

Share to Genomics and Rare Diseases

Share to Mutation

Share to Neurogenetic and Muscular Disorders Research

Source

Open in PubMed Open full text

Identifiers

PMID: 33770234
DOI: 10.1007/s00415-021-10521-w
PMCID: PMC8463338

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.PMID 33770234Read ↗

Comprehensive analysis of the mutation spectrum in 301 German ALS families.Semantic proximity Read ↗

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.Semantic proximity Read ↗

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic FormsSemantic proximity Read ↗

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS CohortSemantic proximity Read ↗

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.Semantic proximity Read ↗

Effect of familial clustering in the genetic screening of 235 French ALS families.Semantic proximity Read ↗

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.Semantic proximity Read ↗

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.Semantic proximity Read ↗

Clinical testing panels for ALS: global distribution, consistency, and challengesSemantic proximity Read ↗

Clinical testing panels for ALS: global distribution, consistency, and challenges.Semantic proximity Read ↗

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.Semantic proximity Read ↗

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease.Semantic proximity Read ↗

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