Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.

doi:10.1038/s41598-026-47948-y

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

Community

Back to search

Article

Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.

Scientific reports - 9 Apr 2026

Treccarichi Simone, Papa Carla, Vinci Mirella, Cosentino Filomena Irene Ilaria, Scalia Guido, Mostile Giovanni, Zappia Mario, Nicoletti Alessandra, Pennisi Manuela, Musumeci Antonino, Chiavetta Valeria, Di Stefano Vincenzo, Piccoli Tommaso, Blandino Valeria, Tripodi Mariangela, Lanuzza Bartolo, Morreale Manuela, Cupidi Chiara, Ferri Raffaele, Lanza Giuseppe, Cali Francesco

Abstract excerpt

Despite the technological advancements in modern genetic diagnosis, customized genetic panels are still frequently employed for diagnostic purposes due to their rapid, efficient, and cost-effective ability to detect genetic variants. In this study, we utilized a customized genetic panel designed to identify genetic variants associated with neurodegenerative disorders. The panel consisted of 61 genes and was...

Read the complete abstract on PubMed

Topics

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

Share to Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Alzheimer Disease

Share to Gene Frequency

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Genetic Variation

Share to Neurodegenerative Diseases

Share to Sicily

Source

Open in PubMed Open full text

Identifiers

PMID: 41957096
DOI: 10.1038/s41598-026-47948-y
PMCID: PMC13199466

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.PMID 41957096Read ↗

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.Semantic proximity Read ↗

Genetics of neurodegenerative diseases: an overview.Semantic proximity Read ↗

A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.Semantic proximity Read ↗

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.Semantic proximity Read ↗

Genetics of neurodegenerative diseases: insights from high-throughput resequencingSemantic proximity Read ↗

Whole-genome sequencing of 197 cases with Parkinson’s Disease reveals novel pathogenic variants in the Indian populationSemantic proximity Read ↗

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.Semantic proximity Read ↗

A comprehensive assessment of benign genetic variability for neurodegenerative disordersSemantic proximity Read ↗

The role of genetics in neurodegenerative dementia: a large cohort study in South ChinaSemantic proximity Read ↗

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s DiseaseSemantic proximity Read ↗

What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.Semantic proximity Read ↗

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

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