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BACKGROUND Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C). OBJECTIVE To define the phenotype in LGMD2I. METHODS The authors assessed 16 patients from 14 families with FKRP gene mutations and LGMD and collected the results of mutation analysis,(More)
BACKGROUND Six candidate gene studies report a genetic association of DNA variants within the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS). However, several other large studies, including five genome-wide association studies, have not duplicated this finding. METHODS We conducted a meta-analysis of 10 published studies and one(More)
OBJECTIVE Four recent studies report a genetic association of the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS). We tested the hypothesis that this association correlates with functional changes in paraoxonase 1 (PON1, MIM 168820). METHODS Sera from 140 ALS participants; 153 age-, race-, and sex-matched controls; and 30 matched CSF(More)
OBJECTIVE To investigate whether the location and extent of the CT hyperdense artery sign (HAS) at presentation affects response to IV alteplase in the randomized controlled Third International Stroke Trial (IST-3). METHODS All prerandomization and follow-up (24-48 hours) CT brain scans in IST-3 were assessed for HAS presence, location, and extent by(More)
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