Associated Papers
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.
Khan S et al.
The Journal of Gene Medicine, 2023
Mutations of CNTNAP1 led to defects in neuronal development.
Li W et al.
Jci Insight, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 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
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.
Hengel H et al.
Neurology. Genetics, 2017
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