Delague, V. et al. 1993 Charcot-Marie-Tooth Neuropathy Type 4H – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY NOTE: THIS PUBLICATION IS ARCHIVED. IT IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: Charcot-Marie-Tooth neuropathy type 4H (CMT4H) is a... - issue: - volume: - pages: .
Antonellis, A. et al. 1993 GARS1-Associated Axonal Neuropathy GARS1-associated axonal neuropathy (Charcot-Marie-Tooth neuropathy type 2D / distal spinal muscular atrophy V [CMT2D/dSMA-V]) is characterized by adolescent or early-adult onset of weakness in the... - issue: - volume: - pages: .
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Katja, . et al. 0 Maarten H.; Accogli Coriene; Grasshoff they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate this variability and describe three in greater detail. Of the three - issue: Niels; Morris-Rosendahl - volume: Deborah J.; Mancini - pages: Leontine; Verheijen.
the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function.", . et al. 0 - issue: - volume: - pages: .