Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

(2015) Gianina Ravenscroft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Caspr and Caspr2 Are Required for Both Radial and Longitudinal Organization of Myelinated Axons

(2014) A. Gordon et al.   JOURNAL OF NEUROSCIENCE

Contactin-1 regulates myelination and nodal/paranodal domain organization in the central nervous system

(2014) G. Colakoglu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

(2013) A. Laquerriere et al.   HUMAN MOLECULAR GENETICS

Neuro-glial interactions at the nodes of Ranvier: implication in health and diseases

(2013) Catherine Faivre-Sarrailh et al.   Frontiers in Cellular Neuroscience

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy

(2012) Benoît Funalot et al.   ANNALS OF NEUROLOGY

Multiple functions of the paranodal junction of myelinated nerve fibers

(2009) Jack Rosenbluth   JOURNAL OF NEUROSCIENCE RESEARCH