Publications (2)11.09 Total impact
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Article: Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder.
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ABSTRACT: Ten members of a 3-generation pedigree with 7 showing Tourette syndrome/chronic tic phenotype (TS-CTD) were evaluated with whole exome sequencing. We identified 3 novel, nonsynonymous single nucleotide variants in the MRPL3, DNAJC13, and OFCC1 genes that segregated with chronic tic phenotype. These variants were not present in 100 control subjects or in dbSNP/1000 Genomes databases. A novel variant in the 5' untranslated region of the OFCC1 gene was found in 2 TS-CTD patients from a different pedigree. Further studies will clarify the importance of variants in MRPL3, DNAJC13, and OFCC1 genes in TS.Annals of Neurology 05/2011; 69(5):901-4. · 11.09 Impact Factor -
Article: Clinical use of evidence-based medicine--clinical questions: Acetylcysteine, a new treatment for an old foe?
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ABSTRACT: This is a small, good quality, randomized controlled trial that shows a modest slowing in the deterioration of VC and DLco with the addition of high dose N-acetylcysteine to standard therapy in IPF. Overall the study should be interpreted with caution given its high drop out rate, which may have biased the results towards a more dramatic slowing of the disease progression. There were no differences in dyspnea score or functional status. There was no increase in the adverse events in the N-acetylcysteine group and the medication is inexpensive. Given only modest effects of N-acetylcysteine on VC and DLco, no change in functional scores, and the flaws of the study we would hesitate to use N-acetylcysteine as standard therapy in all patients with IPF.WMJ: official publication of the State Medical Society of Wisconsin 10/2006; 105(6):6-7.
