Hereditary neuropathies: An update
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference20 articles.
1. Glycyl-tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V;Antonellis;Am J Hum Genet,2003
2. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy;Jordanova;Nat Genet,2006
3. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease;Latour;Am J Hum Genet,2010
4. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late onset CMT2;Gonzalez;J Neurol Neurosurg Psychiatry,2013
5. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies;Safka Brozkova;Brain,2015
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