2005
DOI: 10.1093/brain/awh483
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Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside

Abstract: Skin biopsy is a minimally invasive procedure and has been used in the evaluation of non-myelinated, but not myelinated nerve fibres, in sensory neuropathies. We therefore evaluated myelinated nerves in skin biopsies from normal controls and patients with Charcot-Marie-Tooth (CMT) disease caused by mutations in myelin proteins. Light microscopy, electron microscopy and immunohistochemistry routinely identified myelinated dermal nerves in glabrous skin that appeared similar to myelinated fibres in sural and sci… Show more

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Cited by 112 publications
(137 citation statements)
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“…The latter group would be incompatible with the increased dosage of PMP22 being the cause of the disease. This finding was replicated in two separated publications by different experimenters in our lab 3, 4. The fluctuation of PMP22 was not seen for another compact myelin protein–myelin basic protein (MBP).…”
Section: Highly Variable Levels Of Pmp22supporting
confidence: 61%
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“…The latter group would be incompatible with the increased dosage of PMP22 being the cause of the disease. This finding was replicated in two separated publications by different experimenters in our lab 3, 4. The fluctuation of PMP22 was not seen for another compact myelin protein–myelin basic protein (MBP).…”
Section: Highly Variable Levels Of Pmp22supporting
confidence: 61%
“…While the ascorbic acid trial failed to improve the disease of CMT1A, materials derived from the trials have been instrumental to several important neurobiological issues. Along with our published studies,3, 4 these have raised several critical concerns in the established understanding of CMT1A.…”
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confidence: 84%
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