Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy
N Vavlitou, I Sargiannidou, K Markoullis… - … of Neuropathology & …, 2010 - academic.oup.com
The X-linked demyelinating/type I Charcot-Marie-Tooth neuropathy (CMT1X) is an inherited
peripheral neuropathy caused by mutations in GJB1, the gene that encodes the gap junction …
peripheral neuropathy caused by mutations in GJB1, the gene that encodes the gap junction …
GJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems
CK Abrams, M Freidin - Cell and tissue research, 2015 - Springer
Abstract Charcot–Marie–Tooth disease (CMT) is a group of inherited diseases characterized
by exclusive or predominant involvement of the peripheral nervous system. Mutations in …
by exclusive or predominant involvement of the peripheral nervous system. Mutations in …
Connexin32‐null mice develop demyelinating peripheral neuropathy
SS Scherer, YT Xu, E Nelles, K Fischbeck, K Willecke… - Glia, 1998 - Wiley Online Library
Mutations in the gene encoding the gap junction protein connexin32 (Cx32) cause X‐linked
Charcot‐Marie‐Tooth disease (CMTX), a common form of inherited demyelinating …
Charcot‐Marie‐Tooth disease (CMTX), a common form of inherited demyelinating …
How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?
The X-linked form of Charcot–Marie–Tooth disease (CMT1X) is the second most common
form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by …
form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by …
Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice
SS Scherer, YT Xu, A Messing, K Willecke… - Journal of …, 2005 - Soc Neuroscience
Mutations in Gap Junction β 1 (GJB1), the gene encoding the gap junction protein
connexin32 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), an …
connexin32 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), an …
X‐linked Charcot‐Marie‐tooth disease
SS Scherer, KA Kleopa - Journal of the Peripheral Nervous …, 2012 - Wiley Online Library
The X‐linked form of Charcot‐Marie‐Tooth disease (CMT1X) is the second most common
form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by …
form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by …
Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32
P Anzini, DHH Neuberg, M Schachner… - Journal of …, 1997 - Soc Neuroscience
Mutations affecting the connexin 32 (Cx32) gene are associated with the X-linked form of the
hereditary peripheral neuropathy Charcot–Marie–Tooth disease (CMTX). We show that …
hereditary peripheral neuropathy Charcot–Marie–Tooth disease (CMTX). We show that …
Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease
A Abel, LJ Bone, A Messing, SS Scherer… - Journal of …, 1999 - academic.oup.com
Abstract X-linked Charcot-Marie-Tooth disease (CMTX) is an inherited demyelinating
neuropathy caused by mutations in the gene encoding the gap junction protein connexin32 …
neuropathy caused by mutations in the gene encoding the gap junction protein connexin32 …
The effects of a dominant connexin32 mutant in myelinating Schwann cells
LJB Jeng, RJ Balice-Gordon, A Messing… - Molecular and Cellular …, 2006 - Elsevier
Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), cause X-
linked Charcot–Marie–Tooth disease, an inherited demyelinating peripheral neuropathy. We …
linked Charcot–Marie–Tooth disease, an inherited demyelinating peripheral neuropathy. We …
Cellular mechanisms of connexin32 mutations associated with CNS manifestations
Both oligodendrocytes and myelinating Schwann cells express the gap junction protein
connexin32 (Cx32). Mutations in the gene encoding Cx32 (GJB1) cause the X‐linked form of …
connexin32 (Cx32). Mutations in the gene encoding Cx32 (GJB1) cause the X‐linked form of …