ArticleNeurology. Genetics2017
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.9field-weighted citation impact, top 14% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.Muscle & nerve · 2026Review
- A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits.Journal of neuroscience research · 2025Article
- IgG subclass shifts occurring at acute exacerbations in autoimmune nodopathies.Journal of neurology · 2024Article
- Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.Metabolites · 2024Article
- Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.Cell reports · 2023Article
- Article
- A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.Brain : a journal of neurology · 2021Article
- Mechanisms of node of Ranvier assembly.Nature reviews. Neuroscience · 2021Review
- Mutations of CNTNAP1 led to defects in neuronal development.JCI insight · 2020Article
- First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.European journal of human genetics : EJHG · 2020Article
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum (London, England) · 2020Article
- Article
- Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.Brain : a journal of neurology · 2019Article
- International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Article
- Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.Journal of child neurology · 2018Article
- Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.European journal of human genetics : EJHG · 2018Article
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Current medicinal chemistry · 2018Review
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Holger HengelDepartment 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.
Alex MageeDepartment 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.
Muhammad MahanjahDepartment 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.
Jean-Michel VallatDepartment 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.
Robert OuvrierDepartment 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.
Mohammad Abu-RashidDepartment 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.
Jamal MahamidDepartment 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.
Rebecca SchüleDepartment 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.
Martin SchulzeDepartment 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.
Ingeborg Krägeloh-MannDepartment 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.
Peter BauerDepartment 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.
Stephan ZüchnerDepartment 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.
Rajech SharkiaDepartment 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.
Ludger SchölsDepartment 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.
Hertie Institute for Clinical Brain Research · DE
Funding
trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MNINDS NIH HHS U54 NS065712
Abstract
objectiveTo explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the
methodsIn a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the
resultsWe identified 3 novel
conclusions
Identifiers
What OpenQuestion holds
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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.