The PMP22 Gene and Its Related Diseases

F-actin distribution at nodes of Ranvier and Schmidt-Lanterman incisures in mammalian sciatic nerves

(2012) Alejandra Kun et al.   Cytoskeleton

Myelinating and demyelinating phenotype of Trembler-J mouse (a model of Charcot-Marie-Tooth human disease) analyzed by atomic force microscopy and confocal microscopy

(2012) Gonzalo Rosso et al.   JOURNAL OF MOLECULAR RECOGNITION

Neuropathy in a Human Without the PMP22 Gene

(2011) Mario Andre Saporta et al.   ARCHIVES OF NEUROLOGY

A rat model of Charcot–Marie–Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients

(2011) Robert Fledrich et al.   BRAIN

Gpr126 is essential for peripheral nerve development and myelination in mammals

(2011) K. R. Monk et al.   DEVELOPMENT

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22

(2011) Erin A. Jones et al.   HUMAN MOLECULAR GENETICS

Myelin and Axon Pathology in a Long-Term Study ofPMP22-Overexpressing Mice

(2011) Camiel Verhamme et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Regulation of the PMP22 Gene through an Intronic Enhancer

(2011) E. A. Jones et al.   JOURNAL OF NEUROSCIENCE

Charcot-Marie-Tooth disease

(2011) Mary M. Reilly et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

(2011) Davide Pareyson et al.   LANCET NEUROLOGY

REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy

(2011) Burkhard Gess et al.   MUSCLE & NERVE

Structural Basis for the Trembler-J Phenotype of Charcot-Marie-Tooth Disease

(2011) Masayoshi Sakakura et al.   STRUCTURE

DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations

(2010) P. M. Gonnaud et al.   ACTA NEUROLOGICA SCANDINAVICA

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

Update on Charcot-Marie-Tooth Disease

(2010) Ágnes Patzkó et al.   Current Neurology and Neuroscience Reports

Compound heterozygous PMP22 deletion mutations causing severe Charcot–Marie–Tooth disease type 1

(2010) Akiko Abe et al.   JOURNAL OF HUMAN GENETICS

Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes

(2010) Sung-Wook Jang et al.   JOURNAL OF NEUROCHEMISTRY

Rapamycin Activates Autophagy and Improves Myelination in Explant Cultures from Neuropathic Mice

(2010) S. Rangaraju et al.   JOURNAL OF NEUROSCIENCE

Conduction Block in PMP22 Deficiency

(2010) Y. Bai et al.   JOURNAL OF NEUROSCIENCE

Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement

(2010) Byung-Ok Choi et al.   NEUROGENETICS

Variable phenotypes are associated with PMP22 missense mutations

(2010) M. Russo et al.   NEUROMUSCULAR DISORDERS

PMP22 expression in dermal nerve myelin from patients with CMT1A

(2009) I. Katona et al.   BRAIN

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A

(2009) M. A. Saporta et al.   BRAIN

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

(2009) Marian AJ Weterman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a

(2009) Jonathan D. Verrier et al.   GLIA

P2X7-mediated Increased Intracellular Calcium Causes Functional Derangement in Schwann Cells from Rats with CMT1A Neuropathy

(2009) Lucilla Nobbio et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage

(2009) Heiner Nattkämper et al.   JOURNAL OF NEUROCHEMISTRY

Activation ofKrox20gene expression by Sox10 in myelinating Schwann cells

(2009) Simone Reiprich et al.   JOURNAL OF NEUROCHEMISTRY

Cholesterol Regulates the Endoplasmic Reticulum Exit of the Major Membrane Protein P0 Required for Peripheral Myelin Compaction

(2009) G. Saher et al.   JOURNAL OF NEUROSCIENCE

Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot–Marie–Tooth disease

(2009) Irina Madorsky et al.   NEUROBIOLOGY OF DISEASE

A G Protein-Coupled Receptor Is Essential for Schwann Cells to Initiate Myelination

(2009) K. R. Monk et al.   SCIENCE

Compound heterozygous deletions ofPMP22causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype

(2008) Khalid Al-Thihli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Peripheral Neuropathy-LinkedTremblerandTrembler-JMutant Forms of Peripheral Myelin Protein 22 Are Folding-Destabilized†

(2008) Jeffrey K. Myers et al.   BIOCHEMISTRY

Ascorbic acid is a regulator of the intracellular cAMP concentration: Old molecule, new functions?

(2008) F. Kaya et al.   FEBS LETTERS

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

(2008) Marco Luigetti et al.   MUSCLE & NERVE