Associated Papers
Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.
Sell LB et al.
Muscle & Nerve, 2026
Novel CNTNAP1 gene variant identified in congenital hypomyelinating neuropathy-3: A case report.
Wang H et al.
Sage Open Medical Case Reports, 2024
Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.
Chang C et al.
Cell Reports, 2023
Mutations of CNTNAP1 led to defects in neuronal development.
Li W et al.
Jci Insight, 2020
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review.
Sabbagh S et al.
Case Reports in Medicine, 2020
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
Conant A et al.
Journal of Child Neurology, 2018
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Low KJ et al.
European Journal of Human Genetics : Ejhg, 2018
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
Nizon M et al.
European Journal of Human Genetics : Ejhg, 2017
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
Vallat JM et al.
Journal of Neuropathology and Experimental Neurology, 2016
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A et al.
Annals of Neurology, 2016
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