Recent advances in Charcot-Marie-Tooth disease.
Antwerp, Belgium. In Curr Opin Neurol, 2014
RECENT FINDINGS: Several new Charcot-Marie-Tooth disease-causing genes have been recently identified, further enlarging the genetic diversity and phenotypic variability, including: SBF1, DHTKD1, TFG, MARS, HARS, HINT1, TRIM1, AIFM1, PDK3 and GNB4.
High altitude renal syndrome (HARS).
Lima, Peru. In J Am Soc Nephrol, 2011
The frequent presentation of systemic hypertension and microalbuminuria with relatively preserved GFR coupled with the presence of polycythemia and hyperuricemia suggests a new clinical syndrome we term high altitude renal syndrome (HARS).
Polymyositis and molecular mimicry, a mechanism of autoimmunity.
In Lancet, 1986
The amino acid sequences of Escherichia coli histidyl-tRNA synthetase and alanyl-tRNA synthetase, two proteins recently identified as autoantigens in polymyositis, were compared by a computer alignment procedure with those of the 3600 proteins tabulated in the National Biomedical Research Foundation protein sequence database.