Genomes and Genes
Scott M Paul
Affiliation: National Institutes of Health
- Reliability, validity, and precision of an active stereophotogrammetry system for three-dimensional evaluation of the human torsoScott M Paul
Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD, USA
Med Eng Phys 31:1337-42. 2009....
- Rehabilitation management of Friedreich ataxia: lower extremity force-control variability and gait performanceMichael O Harris-Love
Physical Therapy Section, Rehabilitation Medicine Department, Warren G Magnuson Clinical Center, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
Neurorehabil Neural Repair 18:117-24. 2004..Our observations suggest that use of force-control testing as proxy measures of ataxia and tension-controlled gait aids show promise in the management of Friedreich ataxia and merit further investigation...
- Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibitionRaphaela Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
N Engl J Med 355:581-92. 2006..Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation...
- Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxiaBart E Drinkard
Rehabilitation Medicine Department, Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD 20892 1604, USA
Arch Phys Med Rehabil 91:1044-50. 2010..To determine the exercise capacity of children and adolescents with Friedreich's Ataxia (FA) and to evaluate the effects of 6 months of idebenone treatment on exercise capacity...
- Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexisDavid H McDermott
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Blood 116:2793-802. 2010..Thus, myelokathexis associated with abnormally high neutrophil CXCR4 expression may contribute to neutropenia in G6PC3 deficiency and responds well to granulocyte colony-stimulating factor...
- Digital stereophotogrammetry as a new technique to quantify truncal deformity: a pilot study in persons with osteogenesis imperfectaLisa R Gabor
Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, Maryland 20892 1604, USA
Am J Phys Med Rehabil 90:844-50. 2011..However, the weak agreement between SP and some clinical observations suggests that further development of SP image analysis tools is required before SP can be used as a standard method of diagnosis or assessment of treatment success...
- Evaluating interventions to improve gait in cerebral palsy: a meta-analysis of spatiotemporal measuresScott M Paul
Rehabilitation Medicine Department, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
Dev Med Child Neurol 49:542-9. 2007..More importantly, the present study indicates the need to address participant inclusion criteria and power analysis more adequately in future research studies of interventions to improve gait in CP...