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2018, ISBN 9780444640765, Volume 148
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases that can broadly be classified into two groups: those in which the... 
new-generation sequencing | inherited neuropathy | Charcot–Marie–Tooth | diagnosis | genetic testing | Brain - pathology | Charcot-Marie-Tooth Disease - therapy | Genetic Testing | Charcot-Marie-Tooth Disease - pathology | Humans | Charcot-Marie-Tooth Disease - genetics
Book Chapter
Journal Article
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 8
EGR2 (early growth response 2) is a crucial transcription factor for the myelination of the peripheral nervous system. Mutations in EGR2 are reported to cause... 
EARLY GROWTH-RESPONSE-2 GENE | MULTIDISCIPLINARY SCIENCES | INVOLVEMENT | MISSENSE MUTATION | PHENOTYPE | R359W | SPECTRUM | EGR2 MUTATION | MIGRAINE | BRAIN | FAMILY | Egr-2 protein | Neuropathy | Charcot-Marie-Tooth disease | Age
Journal Article
Current Opinion in Neurology, ISSN 1350-7540, 10/2017, Volume 30, Issue 5, pp. 471 - 480
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 03/2017, Volume 88, Issue 13, pp. 1226 - 1234
Journal Article