Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion

(2016) Maxime Jouaud et al.   NEUROMUSCULAR DISORDERS

The node of Ranvier in CNS pathology

(2014) I. Lorena Arancibia-Carcamo et al.   ACTA NEUROPATHOLOGICA

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

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

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

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

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

(2011) J. Baets et al.   BRAIN

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

(2011) Teresa Sevilla et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Novel MPZ mutations and congenital hypomyelinating neuropathy

(2010) Hugh J. McMillan et al.   NEUROMUSCULAR DISORDERS

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

(2007) Liesbeth S. Smit et al.   NEUROMUSCULAR DISORDERS