Diana Ruiz

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OBJECTIVE To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD). METHODS We administered a neuropsychological battery and the University of Pennsylvania Smell Identification Test (UPSIT) to participants in the CORE-PD study who were tested for mutations in PARKIN, LRRK2, and GBA.(More)
OBJECTIVE To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS). METHODS Exonic sequencing and single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage analysis using microsatellite markers on the X-chromosome was performed on a(More)
BACKGROUND Completing a marathon is one of the most challenging sports activities, yet the source of running fatigue during this event is not completely understood. The aim of this investigation was to determine the cause(s) of running fatigue during a marathon in warm weather. METHODOLOGY/PRINCIPAL FINDINGS We recruited 40 amateur runners (34 men and 6(More)
BACKGROUND While Parkinson disease (PD) is consistently associated with impaired olfaction, one study reported better olfaction among Parkin mutation carriers than noncarriers. Whether olfaction differs between Parkin mutation heterozygotes and carriers of 2 Parkin mutations (compound heterozygotes) is unknown. OBJECTIVE To assess the relationship between(More)
IMPORTANCE Data on the long-term cognitive outcomes of patients with PARKIN-associated Parkinson disease (PD) are unknown but may be useful when counseling these patients. OBJECTIVE Among patients with early-onset PD of long duration, we assessed cognitive and motor performances, comparing homozygotes and compound heterozygotes who carry 2 PARKIN(More)
This study aimed at investigating the effectiveness of compression stockings to prevent muscular damage and preserve muscular performance during a half-ironman triathlon. Thirty-six experienced triathletes volunteered for this study. Participants were matched for age, anthropometric data and training status and placed into the experimental group (N = 19;(More)
The phenotype of Parkinson's disease (PD) in patients with and without leucine-rich repeat kinase 2 (LRRK2) G2019S mutations reportedly is similar; however, large, uniformly evaluated series are lacking. The objective of this study was to characterize the clinical phenotype of Ashkenazi Jewish (AJ) PD carriers of the LRRK2 G2019S mutation. We studied 553 AJ(More)
OBJECTIVES To determine the frequency, variability, sexual dimorphism and bilateral symmetry of fourteen dental crown traits in the deciduous and permanent dentition of 60 dental models (35 women and 25 men) obtained from a native, indigenous group of Nasa school children of the Musse Ukue group in the municipality of Morales, Department of Cauca, Colombia.(More)
  • Bob Yang, Kareem Benjamin, +18 authors Christine Su
  • 2009
The author hereby grants to MIT permission to reproduce and distribute publicly paper and electronic copies of this thesis and to grant others the right to do so. Abstract Managing a software engineering project has traditionally been a challenging task due to ambiguous specifications, unpredictable implementation times, and last-minute bugs. For even the(More)
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