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Neurology Genetics
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February 2020; 6 (1) ArticleOpen Access

Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort

View ORCID ProfileJennifer Roggenbuck, Marilly Palettas, Leah Vicini, Radha Patel, Adam Quick, Stephen J. Kolb
First published January 13, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000390
Jennifer Roggenbuck
From the Department of Internal Medicine (J.R.) and Department of Neurology (J.R., A.Q., S.J.K.), The Ohio State University Wexner Medical Center; Department of Biomedical Informatics (M.P.), Center for Biostatistics, The Ohio State University Wexner Medical Center; College of Medicine (L.V., R.P.), The Ohio State University Wexner Medical Center; and Department of Biological Chemistry & Pharmacology (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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  • ORCID record for Jennifer Roggenbuck
Marilly Palettas
From the Department of Internal Medicine (J.R.) and Department of Neurology (J.R., A.Q., S.J.K.), The Ohio State University Wexner Medical Center; Department of Biomedical Informatics (M.P.), Center for Biostatistics, The Ohio State University Wexner Medical Center; College of Medicine (L.V., R.P.), The Ohio State University Wexner Medical Center; and Department of Biological Chemistry & Pharmacology (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Leah Vicini
From the Department of Internal Medicine (J.R.) and Department of Neurology (J.R., A.Q., S.J.K.), The Ohio State University Wexner Medical Center; Department of Biomedical Informatics (M.P.), Center for Biostatistics, The Ohio State University Wexner Medical Center; College of Medicine (L.V., R.P.), The Ohio State University Wexner Medical Center; and Department of Biological Chemistry & Pharmacology (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Radha Patel
From the Department of Internal Medicine (J.R.) and Department of Neurology (J.R., A.Q., S.J.K.), The Ohio State University Wexner Medical Center; Department of Biomedical Informatics (M.P.), Center for Biostatistics, The Ohio State University Wexner Medical Center; College of Medicine (L.V., R.P.), The Ohio State University Wexner Medical Center; and Department of Biological Chemistry & Pharmacology (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Adam Quick
From the Department of Internal Medicine (J.R.) and Department of Neurology (J.R., A.Q., S.J.K.), The Ohio State University Wexner Medical Center; Department of Biomedical Informatics (M.P.), Center for Biostatistics, The Ohio State University Wexner Medical Center; College of Medicine (L.V., R.P.), The Ohio State University Wexner Medical Center; and Department of Biological Chemistry & Pharmacology (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Stephen J. Kolb
From the Department of Internal Medicine (J.R.) and Department of Neurology (J.R., A.Q., S.J.K.), The Ohio State University Wexner Medical Center; Department of Biomedical Informatics (M.P.), Center for Biostatistics, The Ohio State University Wexner Medical Center; College of Medicine (L.V., R.P.), The Ohio State University Wexner Medical Center; and Department of Biological Chemistry & Pharmacology (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.
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Citation
Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort
Jennifer Roggenbuck, Marilly Palettas, Leah Vicini, Radha Patel, Adam Quick, Stephen J. Kolb
Neurol Genet Feb 2020, 6 (1) e390; DOI: 10.1212/NXG.0000000000000390

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    Figure ALS genetic testing algorithm

    sALS, sporadic ALS with no family history of ALS or dementia; dALS, ALS with a family history of dementia but no ALS; fALS, ALS with a family history of ALS; early onset, onset of ALS symptoms <50 years of age. ALS = amyotrophic lateral sclerosis; NGS = next generation sequencing.

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