CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.
Identifieur interne : 000F04 ( PubMed/Curation ); précédent : 000F03; suivant : 000F05CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.
Auteurs : Holger Hengel [Israël] ; Alex Magee [Israël] ; Muhammad Mahanjah [Israël] ; Jean-Michel Vallat [Israël] ; Robert Ouvrier [Israël] ; Mohammad Abu-Rashid [Israël] ; Jamal Mahamid [Israël] ; Rebecca Schüle [Israël] ; Martin Schulze [Israël] ; Ingeborg Kr Geloh-Mann [Israël] ; Peter Bauer [Israël] ; Stephan Züchner [Israël] ; Rajech Sharkia [Israël] ; Ludger Schöls [Israël]Source :
- Neurology. Genetics [ 2376-7839 ] ; 2017.
Abstract
To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene.
DOI: 10.1212/NXG.0000000000000144
PubMed: 28374019
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000F07
Links to Exploration step
pubmed:28374019Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.</title><author><name sortKey="Hengel, Holger" sort="Hengel, Holger" uniqKey="Hengel H" first="Holger" last="Hengel">Holger Hengel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Magee, Alex" sort="Magee, Alex" uniqKey="Magee A" first="Alex" last="Magee">Alex Magee</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Mahanjah, Muhammad" sort="Mahanjah, Muhammad" uniqKey="Mahanjah M" first="Muhammad" last="Mahanjah">Muhammad Mahanjah</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Vallat, Jean Michel" sort="Vallat, Jean Michel" uniqKey="Vallat J" first="Jean-Michel" last="Vallat">Jean-Michel Vallat</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Ouvrier, Robert" sort="Ouvrier, Robert" uniqKey="Ouvrier R" first="Robert" last="Ouvrier">Robert Ouvrier</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Abu Rashid, Mohammad" sort="Abu Rashid, Mohammad" uniqKey="Abu Rashid M" first="Mohammad" last="Abu-Rashid">Mohammad Abu-Rashid</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Mahamid, Jamal" sort="Mahamid, Jamal" uniqKey="Mahamid J" first="Jamal" last="Mahamid">Jamal Mahamid</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schüle">Rebecca Schüle</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Schulze, Martin" sort="Schulze, Martin" uniqKey="Schulze M" first="Martin" last="Schulze">Martin Schulze</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Kr Geloh Mann, Ingeborg" sort="Kr Geloh Mann, Ingeborg" uniqKey="Kr Geloh Mann I" first="Ingeborg" last="Kr Geloh-Mann">Ingeborg Kr Geloh-Mann</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Sharkia, Rajech" sort="Sharkia, Rajech" uniqKey="Sharkia R" first="Rajech" last="Sharkia">Rajech Sharkia</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28374019</idno><idno type="pmid">28374019</idno><idno type="doi">10.1212/NXG.0000000000000144</idno><idno type="wicri:Area/PubMed/Corpus">000F07</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000F07</idno><idno type="wicri:Area/PubMed/Curation">000F04</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000F04</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.</title><author><name sortKey="Hengel, Holger" sort="Hengel, Holger" uniqKey="Hengel H" first="Holger" last="Hengel">Holger Hengel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Magee, Alex" sort="Magee, Alex" uniqKey="Magee A" first="Alex" last="Magee">Alex Magee</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Mahanjah, Muhammad" sort="Mahanjah, Muhammad" uniqKey="Mahanjah M" first="Muhammad" last="Mahanjah">Muhammad Mahanjah</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Vallat, Jean Michel" sort="Vallat, Jean Michel" uniqKey="Vallat J" first="Jean-Michel" last="Vallat">Jean-Michel Vallat</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Ouvrier, Robert" sort="Ouvrier, Robert" uniqKey="Ouvrier R" first="Robert" last="Ouvrier">Robert Ouvrier</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Abu Rashid, Mohammad" sort="Abu Rashid, Mohammad" uniqKey="Abu Rashid M" first="Mohammad" last="Abu-Rashid">Mohammad Abu-Rashid</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Mahamid, Jamal" sort="Mahamid, Jamal" uniqKey="Mahamid J" first="Jamal" last="Mahamid">Jamal Mahamid</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schüle">Rebecca Schüle</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Schulze, Martin" sort="Schulze, Martin" uniqKey="Schulze M" first="Martin" last="Schulze">Martin Schulze</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Kr Geloh Mann, Ingeborg" sort="Kr Geloh Mann, Ingeborg" uniqKey="Kr Geloh Mann I" first="Ingeborg" last="Kr Geloh-Mann">Ingeborg Kr Geloh-Mann</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Sharkia, Rajech" sort="Sharkia, Rajech" uniqKey="Sharkia R" first="Rajech" last="Sharkia">Rajech Sharkia</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District</wicri:regionArea></affiliation></author></analytic><series><title level="j">Neurology. Genetics</title><idno type="ISSN">2376-7839</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">28374019</PMID><DateCreated><Year>2017</Year><Month>04</Month><Day>04</Day></DateCreated><DateRevised><Year>2017</Year><Month>08</Month><Day>16</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Print">2376-7839</ISSN><JournalIssue CitedMedium="Print"><Volume>3</Volume><Issue>2</Issue><PubDate><Year>2017</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Neurology. Genetics</Title><ISOAbbreviation>Neurol Genet</ISOAbbreviation></Journal><ArticleTitle>CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.</ArticleTitle><Pagination><MedlinePgn>e144</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1212/NXG.0000000000000144</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further CNTNAP1 mutations. Neurophysiology, MRI, and nerve biopsy including electron microscopy were performed for deep phenotyping.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified 3 novel CNTNAP1 mutations in 5 patients from 2 families: c.2015G>A:p.(Trp672*) in a homozygous state in family 1 and c.2011C>T:p.(Gln671*) in a compound heterozygous state with c.2290C>T:p.(Arg764Cys) in family 2. Affected patients suffered from a severe CNS disorder with hypomyelinating leukodystrophy and peripheral neuropathy of sensory-motor type. Arthrogryposis was present in 2 patients but absent in 3 patients. Brain MRI demonstrated severe hypomyelination and secondary cerebral and cerebellar atrophy as well as a mega cisterna magna and corpus callosum hypoplasia. Nerve biopsy revealed very distinct features with lack of transverse bands at the paranodes and widened paranodal junctional gaps.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">CNTNAP1 mutations have recently been linked to patients with arthrogryposis multiplex congenita. However, we show that arthrogryposis is not an obligate feature. CNTNAP1-related disorders are foremost severe hypomyelinating disorders of the CNS and the peripheral nervous system. The pathology is partly explained by the involvement of CNTNAP1 in the proper formation and preservation of paranodal junctions and partly by the assumed role of CNTNAP1 as a key regulator in the development of the cerebral cortex.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hengel</LastName><ForeName>Holger</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Magee</LastName><ForeName>Alex</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mahanjah</LastName><ForeName>Muhammad</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vallat</LastName><ForeName>Jean-Michel</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ouvrier</LastName><ForeName>Robert</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Abu-Rashid</LastName><ForeName>Mohammad</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mahamid</LastName><ForeName>Jamal</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schüle</LastName><ForeName>Rebecca</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schulze</LastName><ForeName>Martin</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Krägeloh-Mann</LastName><ForeName>Ingeborg</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bauer</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Züchner</LastName><ForeName>Stephan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sharkia</LastName><ForeName>Rajech</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schöls</LastName><ForeName>Ludger</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research (H.H., R. Schüle, L.S.), University of Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE) (H.H., R.S., L.S.), Tübingen, Germany; Northern Ireland Regional Genetics Service (A.M.), Belfast City Hospital, Belfast; Department of Neurology (J.-M.V.), National Reference Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France; Institute for Neuroscience and Muscle Research (R.O.), The Children's Hospital at Westmead, Sydney, New South Wales, Australia; The Triangle Regional Research and Development Center (R. Sharkia), Kfar Qari' Israel; Beit-Berl Academic College (R. Sharkia), Israel; Child Neurology and Development Center (M.M.), Hillel-Yaffe Medical Center, Hadera, Israel; Rappaport Faculty of Medicine (M.M.), Technion, Haifa, Israel; Institute of Medical Genetics and Applied Genomics (M.S.), University of Tübingen, Germany; Department of Pediatric Neurology (I.K.-M.), University Medical Center Tübingen, Germany; Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Clalit Health Services (M.A.-R.), Haifa, Israel; and Meuhedet Health Services (J.M.), North District, Israel.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>U54 NS065712</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>03</Month><Day>22</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurol Genet</MedlineTA><NlmUniqueID>101671068</NlmUniqueID><ISSNLinking>2376-7839</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2014 Jul;76(1):5-19</RefSource><PMID Version="1">24916848</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cereb Cortex. 2017 Feb 1;27(2):1369-1385</RefSource><PMID Version="1">26740489</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 2001 May;30(2):385-97</RefSource><PMID Version="1">11395001</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurosci. 2014 Nov 5;34(45):14820-6</RefSource><PMID Version="1">25378149</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Methods. 2014 Apr;11(4):361-2</RefSource><PMID Version="1">24681721</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurosci Res. 2013 May;91(5):603-22</RefSource><PMID Version="1">23404451</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Z Zellforsch Mikrosk Anat. 1965 Feb 24;65:701-12</RefSource><PMID Version="1">14268260</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 2005 Dec 8;48(5):737-42</RefSource><PMID Version="1">16337912</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2014 May 1;23(9):2279-89</RefSource><PMID Version="1">24319099</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neuropathol Exp Neurol. 2009 Nov;68(11):1207-18</RefSource><PMID Version="1">19816196</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2010 Mar 1;26(5):589-95</RefSource><PMID Version="1">20080505</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Bone Joint Surg Am. 2009 Jul;91 Suppl 4:40-6</RefSource><PMID Version="1">19571066</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 2001 May;30(2):369-83</RefSource><PMID Version="1">11395000</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Methods. 2010 Apr;7(4):248-9</RefSource><PMID Version="1">20354512</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neuropathol Exp Neurol. 2009 Aug;68(8):833-44</RefSource><PMID Version="1">19606069</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Protoc. 2009;4(7):1073-81</RefSource><PMID Version="1">19561590</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mutat. 2015 Oct;36(10 ):950-6</RefSource><PMID Version="1">26173844</PMID></CommentsCorrections></CommentsCorrectionsList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>10</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>02</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>4</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>4</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>4</Month><Day>5</Day><Hour>6</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28374019</ArticleId><ArticleId IdType="doi">10.1212/NXG.0000000000000144</ArticleId><ArticleId IdType="pii">NG2016003939</ArticleId><ArticleId IdType="pmc">PMC5363873</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000F04 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 000F04 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= PubMed
|étape= Curation
|type= RBID
|clé= pubmed:28374019
|texte= CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:28374019" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |