ArticleNeurology. Genetics2020
Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort.
Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
12 citing papers in PubMed.
- Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.Human molecular genetics · 2026Article
- Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of aInternational journal of molecular sciences · 2025Article
- Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Different cohort, disparate results: Selection bias is a key factor in autopsy cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.Brain : a journal of neurology · 2023Article
- Evidence-based consensus guidelines for ALS genetic testing and counseling.Annals of clinical and translational neurology · 2023Article
- Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis Genes.Human mutation · 2023Article
- Expanding Clinical Spectrum ofNeurology. Genetics · 2022Review
- Genetic testing in motor neurone disease.Practical neurology · 2022Review
- Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic.Neurology. Genetics · 2021Article
- Review
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Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo determine the incidence of amyotrophic lateral sclerosis (ALS) genetic variants in a clinic-based population.
methodsA prospective cohort of patients with definite or probable ALS was offered genetic testing using a testing algorithm based on family history and age at onset.
resultsThe incidence of pathogenic (P) or likely pathogenic (LP) variants was 56.0% in familial ALS (fALS); 11.8% in patients with ALS with a family history of dementia, and 6.8% in sporadic ALS (
conclusionsOur data suggest that the incidence of P and LP variants in genes other than
Identifiers
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Registered trials
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