ArticleNeurology2023
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
Open access · hybridAbstract read
In one paragraph
Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.5field-weighted citation impact, top 10% of its field
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
13 citing papers in PubMed, 12 citations in OpenAlex.
- Blood Glucose Homeostasis is Preserved in Patients with Mild-to-moderate Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2026Article
- Long-term survival in amyotrophic lateral sclerosis - data from a population-based registry in Rhineland-Palatinate, Germany.BMC neurology · 2026Observational
- Comprehensive clinical and genetic architecture of familial amyotrophic lateral sclerosis in China: A 15-year cohort study with 302 families.Neural regeneration research · 2026Article
- Distinct UNC13A Haplotype Blocks Define Disease Severity and Survival in Chinese Amyotrophic Lateral Sclerosis.European journal of neurology · 2026Article
- Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2.Scientific reports · 2025Article
- The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.Journal of neurology · 2025Article
- Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes.Molecular neurodegeneration · 2025Article
- KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis.Annals of clinical and translational neurology · 2025Article
- Mutation Screening of ATXN1, ATXN2, and ATXN3 in Amyotrophic Lateral Sclerosis.Molecular neurobiology · 2025Article
- Concomitant presence of a novel ARPP21 variant and CNVs in Chinese familial amyotrophic lateral sclerosis-frontotemporal dementia patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Amyotrophic lateral sclerosis established as a multistep process across phenotypes.European journal of neurology · 2025Article
- The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.Journal of neurology · 2024Article
- Disease survival and progression in TARDBP ALS patients from Sardinia, Italy.Journal of neurology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 1 institution in 2 countries.
Adriano ChiòFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy. adriano.chio@unito.it.
Cristina MogliaFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Antonio CanosaFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Umberto ManeraFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Maurizio GrassanoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.ORCID 0000-0001-6714-6897
Rosario VastaFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Francesca PalumboFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.ORCID 0000-0002-7070-2409
Salvatore GalloneFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Maura BrunettiFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Marco BarberisFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.ORCID 0000-0002-7458-5174
Fabiola De MarchiFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.ORCID 0000-0003-4366-0167
Clifton DalgardFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.ORCID 0000-0003-2025-8239
Ruth ChiaFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.ORCID 0000-0002-4709-7423
Gabriele MoraFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.ORCID 0000-0002-8388-2373
Barbara IazzolinoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Laura PeottaFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Bryan J TraynorFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Lucia CorradoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Sandra D'AlfonsoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Letizia MazziniFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
Andrea CalvoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, C.M., A. Canosa, U.M., M.G., R.V., F.P., S.G., M. Brunetti, G.M., B.I., L.P., A. Calvo), University of Turin; Neurology 1 (A. Chiò, C.M., A. Canosa, U.M., S.G., M. Barberis, A. Calvo), AOU Città della Salute e della Scienza Hospital of Turin; Institute of Cognitive Sciences and Technologies (A. Chiò, A. Canosa), CNR, Rome; ALS Center (F.D.M., L.M.), Department of Neurology, Maggiore della Carità Hospital, University of Piemonte Orientale, Novara, Italy; Department of Anatomy, Physiology & Genetics (C.D.), and The American Genome Center (C.D.), Uniformed Services University of the Health Sciences; Neuromuscular Diseases Research Section (R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, Bethesda; Department of Neurology (B.J.T.), Johns Hopkins University Medical Center, Baltimore, MD; and Department of Health Sciences (L.C., S.D.A., L.M.), University of Eastern Piedmont, Novara, Italy.
MACOM (United States) · US
Funding
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6MIntramural NIH HHS Z01 AG000949
Abstract
BACKGROUND AND
objectivesDespite recent advances, it is not clear whether the various genes/genetic variants related to amyotrophic lateral sclerosis (ALS) interact in modifying patients' phenotype. The aim of this study was to determine whether the copresence of genetic variants related to ALS has interactive effects on the course of the disease.
methodsThe study population includes 1,245 patients with ALS identified through the Piemonte Register for ALS between 2007 and 2016 and not carrying superoxide dismutase type 1, TAR DNA binding protein, and fused in sarcoma pathogenic variants. Controls were 766 Italian participants age-matched, sex-matched, and geographically matched to cases. We considered Unc-13 homolog A (
resultsThe median survival time of the whole cohort was 2.67 years (interquartile range [IQR] 1.67-5.25). In univariate analysis, only DISCUSSION: We showed that gene variants acting as modifiers of ALS survival or phenotype can act on their own or in unison. Overall, 54% of patients carried at least 1 detrimental common variant or repeat expansion, emphasizing the clinical impact of our findings. In addition, the identification of the interactive effects of modifier genes represents a crucial clue for explaining ALS clinical heterogeneity and should be considered when designing and interpreting clinical trials results.
Indexed as
Amyotrophic Lateral SclerosisAllelesC9orf72 ProteinHumansPhenotypePrognosisC9orf72 Protein
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