Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy

(2017) Shenela Lakhani et al.   European Journal of Medical Genetics

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

(2017) Paulomi Mehta et al.   MUSCLE & NERVE

Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

(2016) Jérôme Maluenda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing in patients with white matter abnormalities

(2016) Adeline Vanderver et al.   ANNALS OF NEUROLOGY

Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

(2016) Pedro Rodenas-Cuadrado et al.   BMC Medical Genetics

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

(2016) Mathilde Nizon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum

(2016) Mateja Smogavec et al.   JOURNAL OF MEDICAL GENETICS

Contactin-Associated Protein 1 ( CNTNAP1 ) Mutations Induce Characteristic Lesions of the Paranodal Region

(2016) Jean-Michel Vallat et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Disrupted axon-glia interactions at the paranode in myelinated nerves cause axonal degeneration and neuronal cell death in the aged Caspr mutant mouse shambling

(2016) Yoshiko Takagishi et al.   NEUROBIOLOGY OF AGING

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Clinical manifestations of patients with CASPR2 antibodies

(2015) Jun-Sang Sunwoo et al.   JOURNAL OF NEUROIMMUNOLOGY

Case definition and classification of leukodystrophies and leukoencephalopathies

(2015) Adeline Vanderver et al.   MOLECULAR GENETICS AND METABOLISM

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

(2014) Christopher M. Watson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

TUBB4A de novo mutations cause isolated hypomyelination

(2014) A. Pizzino et al.   NEUROLOGY

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

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

Congenital Hypomyelinating Neuropathy Attributable to a De Novo p.Asp61Asn Mutation of the Myelin Protein Zero Gene

(2013) Takahiro Yonekawa et al.   PEDIATRIC NEUROLOGY

Genetic spectrum of hereditary neuropathies with onset in the first year of life

(2011) J. Baets et al.   BRAIN

Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers

(2011) Jana Midelfart Hoff et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

The burden of inherited leukodystrophies in children

(2010) J. L. Bonkowsky et al.   NEUROLOGY

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Novel Caspr Mutation Causes the Shambling Mouse Phenotype by Disrupting Axoglial Interactions of Myelinated Nerves

(2009) Xiao-yang Sun et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl

(2009) Christopher Jackman et al.   PEDIATRIC NEUROLOGY

Early-Onset Neurodegenerative Disease of the Cerebellum and Motor Axons

(2009) Michael S. Salman et al.   PEDIATRIC NEUROLOGY