GJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems

A V139M Mutation Also Causes the Reversible CNS Phenotype in CMTX

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

Nonuniform molecular features of myelinating Schwann cells in models for CMT1: Distinct disease patterns are associated with NCAM and c-Jun upregulation

(2014) Dennis Klein et al.   GLIA

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

(2014) G.-H. Kim et al.   PEDIATRICS

The various Charcot–Marie–Tooth diseases

(2013) Jean-Michel Vallat et al.   CURRENT OPINION IN NEUROLOGY

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

(2013) M. Caramins et al.   HUMAN MOLECULAR GENETICS

The Liver Connexin32 Interactome Is a Novel Plasma Membrane-Mitochondrial Signaling Nexus

(2013) Stephanie L. Fowler et al.   JOURNAL OF PROTEOME RESEARCH

Mutational analysis of the 5′ non-coding region of GJB1 in a Taiwanese cohort with Charcot–Marie–Tooth neuropathy

(2013) Pei-Chien Tsai et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

(2013) Alexander M. Rossor et al.   Nature Reviews Neurology

Inherited Peripheral Neuropathies

(2013) Mario A. Saporta et al.   NEUROLOGIC CLINICS

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

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

Functional Requirement for a Highly Conserved Charged Residue at Position 75 in the Gap Junction Protein Connexin 32

(2012) Charles K. Abrams et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Panglial Gap Junctional Communication is Essential for Maintenance of Myelin in the CNS

(2012) O. Tress et al.   JOURNAL OF NEUROSCIENCE

Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease

(2012) Kota Sato et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Unusual features of central nervous system involvement in CMTX associated with a novel mutation ofGJB1gene

(2012) Claudia Stancanelli et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

c-Jun Reprograms Schwann Cells of Injured Nerves to Generate a Repair Cell Essential for Regeneration

(2012) Peter J. Arthur-Farraj et al.   NEURON

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Gap junctions in inherited human disorders of the central nervous system

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

Connexin26 expression in brain parenchymal cells demonstrated by targeted connexin ablation in transgenic mice

(2011) J. I. Nagy et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Deletion of oligodendrocyte Cx32 and astrocyte Cx43 causes white matter vacuolation, astrocyte loss and early mortality

(2011) Laura M. Magnotti et al.   GLIA

Mitochondrial connexin 43 impacts on respiratory complex I activity and mitochondrial oxygen consumption

(2011) Kerstin Boengler et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease

(2011) Sinéad M. Murphy et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling

(2011) Sameh K. Wasseff et al.   NEUROBIOLOGY OF DISEASE

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

(2011) A. Basu et al.   NEUROLOGY

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

(2011) E. M. Yiu et al.   NEUROLOGY

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode

(2010) GEETHA ANAND et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Functional heterotypic interactions between astrocyte and oligodendrocyte connexins

(2010) Laura M. Magnotti et al.   GLIA

Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32

(2010) Marta Maglione et al.   GLIA

Temporary Sequestration of Potassium by Mitochondria in Astrocytes

(2010) Michael G. Kozoriz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transient Leukoencephalopathy Associated With X-Linked Charcot-Marie-Tooth Disease

(2010) Tena Rosser et al.   JOURNAL OF CHILD NEUROLOGY

Coexistent Central and Peripheral Nervous System Involvement in a Charcot-Marie-Tooth Syndrome X-linked Patient

(2010) Carlo Fusco et al.   JOURNAL OF CHILD NEUROLOGY

Axonal Pathology Precedes Demyelination in a Mouse Model of X-Linked Demyelinating/Type I Charcot-Marie Tooth Neuropathy

(2010) Natalie Vavlitou et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

(2010) Claudia Gonzaga-Jauregui et al.   NEUROGENETICS

Molecular Inflammatory Mediators in Peripheral Nerve Degeneration and Regeneration

(2010) Carlos Rodrigo Cámara-Lemarroy et al.   NEUROIMMUNOMODULATION

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

Deletion of Astrocyte Connexins 43 and 30 Leads to a Dysmyelinating Phenotype and Hippocampal CA1 Vacuolation

(2009) S. E. Lutz et al.   JOURNAL OF NEUROSCIENCE

Persistent CNS dysfunction in a boy with CMT1X

(2009) Carly Siskind et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

−459C>T point mutation in 5′ non-coding region of humanGJB1gene is linked to X-linked Charcot-Marie-Tooth neuropathy

(2009) Miaoxin Li et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system

(2009) J.E. Rash   NEUROSCIENCE

c-Jun, krox-20, and integrin β4 expression following chronic nerve compression injury

(2009) Khoa Pham et al.   NEUROSCIENCE LETTERS

Connexin 32 increases the proliferative response of Schwann cells to neuregulin-1 (Nrg1)

(2009) M. Freidin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Connexin expression by radial glia-like cells is required for neurogenesis in the adult dentate gyrus

(2009) A. Kunze et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Axon-Glial Signaling and the Glial Support of Axon Function

(2008) Klaus-Armin Nave et al.   Annual Review of Neuroscience

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

(2008) Jennifer L. Orthmann-Murphy et al.   BRAIN

Negative regulation of myelination: Relevance for development, injury, and demyelinating disease

(2008) Kristján R. Jessen et al.   GLIA

c-Jun is a negative regulator of myelination

(2008) David B. Parkinson et al.   JOURNAL OF CELL BIOLOGY

Gap Junctions Couple Astrocytes and Oligodendrocytes

(2008) Jennifer L. Orthmann-Murphy et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Human oligodendrocytes express Cx31.3: Function and interactions with Cx32 mutants

(2008) Irene Sargiannidou et al.   NEUROBIOLOGY OF DISEASE

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

(2008) Jayasri Srinivasan et al.   PEDIATRIC NEUROLOGY