Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1A
Author:
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/123/5/1001/17864292/1231001.pdf
Reference24 articles.
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3. D'Urso D, Prior R, Greiner-Petter R, Gabreëls-Festen AAWM, Mueller HW. Overloaded endoplasmic reticulum-golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci1998; 18: 731–40.
4. de Visser M. Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type 1A. Neuromuscul Disord1993; 3: 77–9.
5. Gabreëls-Festen AA, Joosten EM, Gabreëls FJ, Jennekens FG, Janssen-van Kempen TW. Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type 1). J Neurol Sci1992; 107: 145–54.
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