A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32

A V139M Mutation Also Causes the Reversible CNS Phenotype in CMTX

(2014) Michelle Halbrich et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Inhibition of autophagy, lysosome and VCP function impairs stress granule assembly

(2014) S J Seguin et al.   CELL DEATH AND DIFFERENTIATION

Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness

(2014) G.-H. Kim et al.   PEDIATRICS

The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease

(2013) Majeed Al-Mateen et al.   JOURNAL OF CHILD NEUROLOGY

Connexin47 Protein Phosphorylation and Stability in Oligodendrocytes Depend on Expression of Connexin43 Protein in Astrocytes

(2013) D. May et al.   JOURNAL OF NEUROSCIENCE

Connexin 43 Astrocytopathy Linked to Rapidly Progressive Multiple Sclerosis and Neuromyelitis Optica

(2013) Katsuhisa Masaki et al.   PLoS One

Gap junction communication in myelinating glia

(2012) Anna Nualart-Marti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

(2012) Kleopas A. Kleopa et al.   BRAIN RESEARCH

Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis

(2012) Kyriaki Markoullis et al.   GLIA

Gap junctions in inherited human disorders of the central nervous system

(2011) Charles K. Abrams et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene

(2011) B. Mentrup et al.   BONE

Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease

(2011) A. Basu et al.   NEUROLOGY

Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease

(2009) Dana Brožková et al.   Genetic Testing and Molecular Biomarkers

Connexin32 Mutations Cause Loss of Function in Schwann Cells and Oligodendrocytes Leading to PNS and CNS Myelination Defects

(2009) I. Sargiannidou et al.   JOURNAL OF NEUROSCIENCE

Central Nervous System Signs in X-Linked Charcot-Marie-Tooth Disease After Hyperventilation

(2008) Jayasri Srinivasan et al.   PEDIATRIC NEUROLOGY