ArticleNeurology2018
The multistep hypothesis of ALS revisited: The role of genetic mutations.
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Article in Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers, 5 of them syntheses that pooled it.
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130citing papers in PubMed, 5 pooled it
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Who cites it
130 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Neuroinflammation and Oxidative Stress in SOD1 Animal Models of ALS: A Meta-analysis Study of Their Effects on Disease Onset and Progression.Molecular neurobiology · 2026Pooled it
- Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.Journal of neurology · 2024Pooled it
- Analysis of aneurysmal subarachnoid hemorrhage as a multistep process.European journal of neurology · 2024Pooled it
- A Machine Learning Approach for Highlighting microRNAs as Biomarkers Linked to Amyotrophic Lateral Sclerosis Diagnosis and Progression.Biomolecules · 2023Pooled it
- A Meta-Analysis Study of SOD1-Mutant Mouse Models of ALS to Analyse the Determinants of Disease Onset and Progression.International journal of molecular sciences · 2022Pooled it
- Radiation Therapy for Sialorrhea in Patients With Amyotrophic Lateral Sclerosis: A Case Series and Critical Review.Advances in radiation oncology · 2026Article
- Article
- Sex-Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?Annals of neurology · 2026Article
- Clinical utility and prospective of TMS-EEG: Updated review from an international expert group.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2026Review
- Exploring the ALS Multistep Model.Brain sciences · 2026Review
- Multimorbidity as a multistage disease process.PNAS nexus · 2026Article
- The multistep pathogenic hypothesis of amyotrophic lateral sclerosis is incompatible with the epidemiological data.European journal of epidemiology · 2026Article
- Investigating the Potential Roles of Environmental Exposures on the Pathology of Amyotrophic Lateral Sclerosis by Overlap Analysis.Neurotoxicity research · 2025Article
- A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.Communications biology · 2025Article
- Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72.Annals of clinical and translational neurology · 2025Article
- Examining iPSC derived motor neuron variability and genome stability monitoring as a solution.Scientific reports · 2025Article
- Review
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Hospital-treated infections and the risk and prognosis of amyotrophic lateral sclerosis: A population-based study.Journal of internal medicine · 2025Article
- A case of rapidly progressive juvenile amyotrophic lateral sclerosis associated with a pathogenetic heterozygous de novo variant in the FUS gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
70 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors.
Adriano ChiòFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK. achio@usa.net.
Letizia MazziniFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Sandra D'AlfonsoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Lucia CorradoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Antonio CanosaFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Cristina MogliaFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Umberto ManeraFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Enrica BersanoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Maura BrunettiFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Marco BarberisFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Jan H VeldinkFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Leonard H van den BergFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Neil PearceFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
William SprovieroFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Russell McLaughlinFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Alice VajdaFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Orla HardimanFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
James RooneyFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Gabriele MoraFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Andrea CalvoFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Ammar Al-ChalabiFrom the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.
Funding
Medical Research Council MR/L501529/1Medical Research Council MR/R024804/1Motor Neurone Disease Association AL-CHALABI/APR15/844-791Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791Motor Neurone Disease Association ALCHALABI-TALBOT/APR14/926-794
Abstract
objectiveAmyotrophic lateral sclerosis (ALS) incidence rates are consistent with the hypothesis that ALS is a multistep process. We tested the hypothesis that carrying a large effect mutation might account for ≥1 steps through the effect of the mutation, thus leaving fewer remaining steps before ALS begins.
methodsWe generated incidence data from an ALS population register in Italy (2007-2015) for which genetic analysis for
resultsOf the 1,077 genetically tested cases, 74 (6.9%) carried
conclusionThe identification of a reduced number of steps in patients with ALS with genetic mutations compared to those without mutations supports the idea of ALS as a multistep process and is an important advance for dissecting the pathogenic process in ALS.
Indexed as
AdultAgedAmyotrophic Lateral SclerosisC9orf72 ProteinDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseGenetic TestingHumansIncidenceMaleMiddle AgedMutationRetrospective StudiesRNA-Binding Protein FUSSuperoxide Dismutase-1C9orf72 ProteinC9orf72 protein, humanDNA-Binding ProteinsFUS protein, humanRNA-Binding Protein FUSSOD1 protein, humanSuperoxide Dismutase-1TARDBP protein, human
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