Related references
Note: Only part of the references are listed.Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease
Meiko Hashimoto Maeda et al.
ANNALS OF NEUROLOGY (2012)
Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X
Janos Groh et al.
BRAIN (2012)
A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients
Robert Fledrich et al.
BRAIN (2012)
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22
Erin A. Jones et al.
HUMAN MOLECULAR GENETICS (2012)
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
Garth Nicholson et al.
BRAIN (2011)
Recent Advances in the Genetics of Hereditary Axonal Sensory-Motor Neuropathies Type 2
Senda Ajroud-Driss et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2011)
Inherited Neuropathies
Angelo Schenone et al.
CURRENT TREATMENT OPTIONS IN NEUROLOGY (2011)
Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero
Helle Hoyer et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)
Myelin and Axon Pathology in a Long-Term Study of PMP22-Overexpressing Mice
Camiel Verhamme et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2011)
Regulation of the PMP22 Gene through an Intronic Enhancer
Erin A. Jones et al.
JOURNAL OF NEUROSCIENCE (2011)
Charcot-Marie-Tooth disease
Mary M. Reilly et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)
Ascorbic acid for treatment in CMT1A: what's next?
Marianne de Visser et al.
LANCET NEUROLOGY (2011)
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial
Davide Pareyson et al.
LANCET NEUROLOGY (2011)
REPORT OF A NOVEL MUTATION IN THE PMP22 GENE CAUSING AN AXONAL NEUROPATHY
Burkhard Gess et al.
MUSCLE & NERVE (2011)
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease
Constantin d'Ydewalle et al.
NATURE MEDICINE (2011)
The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration
Gerd Meyer Zu Horste et al.
NEUROBIOLOGY OF DISEASE (2011)
Genetics of Neuropathies
Carly E. Siskind et al.
SEMINARS IN NEUROLOGY (2011)
MCP-1/CCL2 Modifies Axon Properties in a PMP22-Overexpressing Mouse Model for Charcot-Marie-Tooth 1A Neuropathy
Bianca Kohl et al.
AMERICAN JOURNAL OF PATHOLOGY (2010)
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
H. Skre
CLINICAL GENETICS (2010)
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease
Marian A. J. Weterman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot-Marie-Tooth 1X
Janos Groh et al.
HUMAN MOLECULAR GENETICS (2010)
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E
Florence Dequen et al.
HUMAN MOLECULAR GENETICS (2010)
Rapamycin Activates Autophagy and Improves Myelination in Explant Cultures from Neuropathic Mice
Sunitha Rangaraju et al.
JOURNAL OF NEUROSCIENCE (2010)
Conduction Block in PMP22 Deficiency
Yunhong Bai et al.
JOURNAL OF NEUROSCIENCE (2010)
Elevated Phosphatidylinositol 3,4,5-Trisphosphate in Glia Triggers Cell-Autonomous Membrane Wrapping and Myelination
Sandra Goebbels et al.
JOURNAL OF NEUROSCIENCE (2010)
Lack of evidence for a pathogenic role of T-lymphocytes in an animal model for Charcot-Marie-Tooth disease 1A
Bianca Kohl et al.
NEUROBIOLOGY OF DISEASE (2010)
168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT)
M.M. Reilly et al.
NEUROMUSCULAR DISORDERS (2010)
Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial
Camiel Verhamme et al.
BMC MEDICINE (2009)
P2X7-mediated Increased Intracellular Calcium Causes Functional Derangement in Schwann Cells from Rats with CMT1A Neuropathy
Lucilla Nobbio et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Myelin Under Stress
Maurizio D'Antonio et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2009)
Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
Joshua Burns et al.
LANCET NEUROLOGY (2009)
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randornised, double-blind, placebo-control led trial
Joelle Micallef et al.
LANCET NEUROLOGY (2009)
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
Davide Pareyson et al.
LANCET NEUROLOGY (2009)
Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot-Marie-Tooth disease
Irina Madorsky et al.
NEUROBIOLOGY OF DISEASE (2009)
Gadofluorine M-enhanced magnetic resonance nerve imaging: Comparison between acute inflammatory and chronic degenerative demyelination in rats
Carsten Wessig et al.
EXPERIMENTAL NEUROLOGY (2008)
Interactions Between Schwann Cells and Macrophages in Injury and Inherited Demyelinating Disease
Rudolf Martini et al.
GLIA (2008)
Increase of MCP-1 (CCL2) in myelin mutant Schwann cells is mediated by MEK-ERK signaling pathway
Stefan Fischer et al.
GLIA (2008)
Pharmacological induction of the heat shock response improves myelination in a neuropathic model
Sunitha Rangaraju et al.
NEUROBIOLOGY OF DISEASE (2008)
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice
Fred L. Robinson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Phosphoinositides and Charcot-Marie-Tooth disease: New keys to old questions
U. Suter
CELLULAR AND MOLECULAR LIFE SCIENCES (2007)
Mechanisms of Disease: inherited demyelinating neuropathies - from basic to clinical research
Klaus-Armin Nave et al.
NATURE CLINICAL PRACTICE NEUROLOGY (2007)
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
Clement Y. Chow et al.
NATURE (2007)
The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones
Jenny Fortun et al.
NEUROBIOLOGY OF DISEASE (2007)
Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy
Gerd Meyer zu Horste et al.
ANNALS OF NEUROLOGY (2007)
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: A potential therapy for inherited neuropathy
Mehrdad Khajavi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Adaptation to ER stress is mediated by differential stabilities of pro-survival and pro-apoptotic mRNAs and proteins
D. Thomas Rutkowski et al.
PLOS BIOLOGY (2006)
Animal models of inherited neuropathies
Gerd Meyer zu Hoerste et al.
CURRENT OPINION IN NEUROLOGY (2006)
Major myelin protein gene (PO) mutation causes a novel form of axonal degeneration
Jun Li et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2006)
The effects of a dominant connexin32 mutant in myelinating Schwann cells
Linda Jo Bone Jeng et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2006)
Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression
J Fortun et al.
NEUROBIOLOGY OF DISEASE (2006)
Peripheral neuropathies caused by mutations in the myelin protein zero
ME Shy
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice
L Wrabetz et al.
JOURNAL OF NEUROSCIENCE (2006)
Molecular genetics of X-linked Charcot-Marie-Tooth disease
Kleopas A. Kleopa et al.
NEUROMOLECULAR MEDICINE (2006)
An animal model for Charcot-Marie-Tooth disease type 4B1
S Bonneick et al.
HUMAN MOLECULAR GENETICS (2005)
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants
M Khajavi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A
I Kobsar et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2005)
NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients
Z Sahenk et al.
NEUROLOGY (2005)
Reliability and validity of the CMT neuropathy score as a measure of disability
ME Shy et al.
NEUROLOGY (2005)
Curcumin inhibits formation of amyloid β oligomers and fibrils, binds plaques, and reduces amyloid in vivo
FS Yang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice
SS Scherer et al.
JOURNAL OF NEUROSCIENCE (2005)
Modulation of neurodegeneration by molecular chaperones
PJ Muchowski et al.
NATURE REVIEWS NEUROSCIENCE (2005)
Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: enhanced axonal degeneration following disruption of the RAG-1 gene
M Berghoff et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2005)
Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects
ME Egan et al.
SCIENCE (2004)
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
E Passage et al.
NATURE MEDICINE (2004)
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
K Inoue et al.
NATURE GENETICS (2004)
Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves
FA Court et al.
NATURE (2004)
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
A Bolino et al.
JOURNAL OF CELL BIOLOGY (2004)
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts
O Teijido et al.
HUMAN MOLECULAR GENETICS (2004)
Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease
M Grandis et al.
EXPERIMENTAL NEUROLOGY (2004)
Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder
AE Rünker et al.
JOURNAL OF CELL BIOLOGY (2004)
Antioxidants are necessary for myelination of dorsal root ganglion neurons, in vitro
JL Podratz et al.
GLIA (2004)
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene
M Auer-Grumbach et al.
NEUROLOGY (2003)
Disease mechanisms in inherited neuropathies
U Suter et al.
NATURE REVIEWS NEUROSCIENCE (2003)
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
H Azzedine et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Preserved myelin integrity and reduced axonopathy in connexin32-deficient mice lacking the recombination activating gene-1
I Kobsar et al.
BRAIN (2003)
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
J Senderek et al.
HUMAN MOLECULAR GENETICS (2003)
Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
MW Sereda et al.
NATURE MEDICINE (2003)
Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus
HL Wilson et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations
MC Ryan et al.
NEUROBIOLOGY OF DISEASE (2002)
Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A
AM Robertson et al.
JOURNAL OF ANATOMY (2002)
Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22
AR Tobler et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
A De Sandre-Giovannoli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease
P Young et al.
BRAIN RESEARCH REVIEWS (2001)
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
O Dubourg et al.
BRAIN (2001)
Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins
CR Sanders et al.
BIOCHEMISTRY (2001)
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ
C Zhao et al.
CELL (2001)
Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin
H Houlden et al.
BRAIN (2001)
Mammalian MAP kinase signalling cascades
LF Chang et al.
NATURE (2001)
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
A Guilbot et al.
HUMAN MOLECULAR GENETICS (2001)
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)
K Misu et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2000)
PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells
J Colby et al.
NEUROBIOLOGY OF DISEASE (2000)
Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication
J Berciano et al.
NEUROMUSCULAR DISORDERS (2000)
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
AM Isaacs et al.
HUMAN MOLECULAR GENETICS (2000)
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
A Bolino et al.
NATURE GENETICS (2000)
Response of Schwann cells to action potentials in development
B Stevens et al.
SCIENCE (2000)
P0 glycoprotein overexpression causes congenital hypomyelination of peripheral nerves
L Wrabetz et al.
JOURNAL OF CELL BIOLOGY (2000)