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Neuromuscular Disorders, ISSN 0960-8966, 06/2019, Volume 29, Issue 6, pp. 422 - 426
is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be... 
Gene dose effect | Splice site acceptor variant | Overlapped pathophysiology | PMP22-related disease | PMP22 protein with in-frame deletion | PMP22 | MODEL | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 05/2019, Volume 29, Issue 5, pp. 398 - 400
Bilateral simultaneous radial palsy is uncommon, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary... 
PMP22 | Entrapment neuropathies | Radial nerve lesion | Hereditary neuropathy | HNPP | Hereditary neuropathy with liability to pressure palsies | DIAGNOSIS | LIABILITY | NEUROSCIENCES | CLINICAL NEUROLOGY | DELETION | FAMILY | PMP22 GENE
Journal Article
Fungal Genetics and Biology, ISSN 1087-1845, 11/2019, Volume 132, pp. 103259 - 103259
In an search for correlated gene loss with fungal peroxisomal uric acid oxidase (UOX), we identified PMP22-like proteins, some of which function as promiscuous... 
PMP22 | Woronin bodies | Uric acid | Urate oxidase | Filamentous fungi | Index Medicus
Journal Article
Hiroshima Journal of Medical Sciences, ISSN 0018-2052, 05/2018, Volume 67, pp. 174 - 178
Journal Article
Revue Neurologique, ISSN 0035-3787, 04/2014, Volume 170, pp. A39 - A39
Journal Article
LANCET NEUROLOGY, ISSN 1474-4422, 12/2009, Volume 8, Issue 12, pp. 1103 - 1110
Background Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy that affects roughly one in 5000 births. No specific therapy... 
VITAMIN-C | GENE | MOUSE MODEL | PMP22 OVEREXPRESSION | MUTATION | DISABILITY | DUPLICATION | NEUROPATHY SCORE | NATURAL-HISTORY | ASSOCIATION | CLINICAL NEUROLOGY
Journal Article
Journal Article
Journal de Traumatologie du Sport, ISSN 0762-915X, 09/2016, Volume 33, Issue 3, pp. 170 - 172
We report the case of a 20 years old military consulting for lameness, without pain, appeared after 24 hours of intense military sporting activities. Clinical... 
Multiple mononeuropathy | PMP22 gene | Sport | HNPP
Journal Article
Cell Reports, ISSN 2211-1247, 08/2015, Volume 12, Issue 7, pp. 1169 - 1183
Journal Article
The American Journal of Pathology, ISSN 0002-9440, 03/2018, Volume 188, Issue 3, pp. 728 - 738
A common form of hereditary autosomal dominant demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication of the... 
NERVE MYELIN | NEUROPATHY | GENE | ASCORBIC-ACID TREATMENT | MOUSE MODEL | PMP22 | MEMBRANE-PROTEIN | SCHWANN-CELLS | AUTOPHAGY | PATHOLOGY | CMT1A | Index Medicus | Abridged Index Medicus
Journal Article
Neuroscience Letters, ISSN 0304-3940, 06/2015, Volume 596, pp. 14 - 26
Inherited neuropathies known collectively as Charcot–Marie–Tooth disease are one of the most common inherited neurological conditions affecting ∼1 in 2500... 
Charcot–Marie–Tooth disease | Cx32 | MPZ | PMP22 | Demyelinating neuropathies | Inherited neuropathies | Unfolded protein response
Journal Article
Multiple Sclerosis and Related Disorders, ISSN 2211-0348, 10/2019, Volume 35, pp. 83 - 85
Central nervous system involvement has been reported in different subtypes of Charcot-Marie-Tooth (CMT) diseases. The increasing number of cases with CMT and... 
Rehabilitation | Neuropathy | Demyelinating diseases | Peripheral myelin protein 22 gene (pmp22) | Index Medicus
Journal Article
ACS CHEMICAL BIOLOGY, ISSN 1554-8929, 11/2014, Volume 9, Issue 11, pp. 2594 - 2602
Copy number variation resulting in excess PMP22 protein causes the peripheral neuropathy CharcotMarieTooth disease, type 1A. To broadly interrogate chemically... 
MYELINATION | DEMYELINATION | PMP22 GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | ASCORBIC-ACID TREATMENT | MOUSE MODEL | MECHANISMS | IDENTIFICATION | EXPRESSION | LUCIFERASE REPORTER
Journal Article
JOURNAL OF NEUROCHEMISTRY, ISSN 0022-3042, 05/2018, Volume 145, Issue 3, pp. 245 - 257
Peripheral myelin protein 22 (PMP22) is a component of compact myelin in the peripheral nervous system. The amount of PMP22 in myelin is tightly regulated, and... 
myelin | MYELIN PROTEIN | RANVIER | peripheral nerve | PERIPHERAL NERVOUS-SYSTEM | BIOCHEMISTRY & MOLECULAR BIOLOGY | HNPP | Schwann cells | Pmp22 | TOMACULOUS NEUROPATHY | PMP22-DEFICIENT MICE | PROTEIN 22-DEFICIENT MICE | NEUROSCIENCES | SCIATIC-NERVE | Integrin beta 4 | SCHWANN-CELLS | BETA SUBUNIT | DISEASE TYPE 1A
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 01/2019, Volume 90, Issue 1, pp. 58 - 67
Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the... 
HMSN (CHARCOT-MARIE-TOOTH) | neuropathy | SURGERY | PSYCHIATRY | PHENOTYPE | PMP22 EXPRESSION | CLINICAL NEUROLOGY | TRANSGENIC RAT MODEL | MYELIN | AXONAL LOSS | DEMYELINATION | ASCORBIC-ACID TREATMENT | MOUSE MODEL | QUALITY-OF-LIFE | DISEASE TYPE 1A | Transgenic animals | Pathogenesis | Rodents | Nervous system | Mitochondrial DNA | Mutation | Gene therapy | Peripheral neuropathy | Neurogenetics | 1507 | 1506
Journal Article