Abstract

This study attempts to identify the locus for autosomal distal SMA in a family in which this disorder is sufficiently defined clinically, and the pedigree extensive enough, that restriction fragment length polymorphism (RFLP) linkage analysis is a feasible approach toward identifying the underlying genetic defect.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000035-32
Application #
3847409
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
32
Fiscal Year
1992
Total Cost
Indirect Cost

  Institution

Name
Johns Hopkins University
Department
Type
DUNS #
045911138
City
Baltimore
State
MD
Country
United States
Zip Code
21218

  Publications

Kullmann, F Aura; Katofiasc, M; Thor, K B et al. (2017) Pharmacodynamic evaluation of Lys5, MeLeu9, Nle10-NKA(4-10) prokinetic effects on bladder and colon activity in acute spinal cord transected and spinally intact rats. Naunyn Schmiedebergs Arch Pharmacol 390:163-173
Mercadante, Courtney J; Herrera, Carolina; Pettiglio, Michael A et al. (2016) The effect of high dose oral manganese exposure on copper, iron and zinc levels in rats. Biometals 29:417-22
Doria-Rose, V Paul; Marcus, Pamela M; Miller, Anthony B et al. (2010) Does the source of death information affect cancer screening efficacy results? A study of the use of mortality review versus death certificates in four randomized trials. Clin Trials 7:69-77
Doria-Rose, V Paul; Marcus, Pamela M; Szabo, Eva et al. (2009) Randomized controlled trials of the efficacy of lung cancer screening by sputum cytology revisited: a combined mortality analysis from the Johns Hopkins Lung Project and the Memorial Sloan-Kettering Lung Study. Cancer 115:5007-17
Holbrook, Janet T; Jabs, Douglas A; Weinberg, David V et al. (2003) Visual loss in patients with cytomegalovirus retinitis and acquired immunodeficiency syndrome before widespread availability of highly active antiretroviral therapy. Arch Ophthalmol 121:99-107
Martin, B K; Kaplan Gilpin, A M; Jabs, D A et al. (2001) Reliability, validity, and responsiveness of general and disease-specific quality of life measures in a clinical trial for cytomegalovirus retinitis. J Clin Epidemiol 54:376-86
Becker, D M; Tuggle, M B; Prentice, M F (2001) Building a gateway to promote cardiovascular health research in African American communities: lessons and findings from the field. Am J Med Sci 322:276-81
Holbrook, J T; Meinert, C L; Jabs, D A et al. (2001) Patient notification and follow-up after suspension of treatment protocols. experience from four clinical trials of treatments for AIDS-related CMV retinitis. Control Clin Trials 22:62-8
Kral, B G; Becker, L C; Yook, R M et al. (2001) Racial differences in low-density lipoprotein particle size in families at high risk for premature coronary heart disease. Ethn Dis 11:325-37
Becker, D M; Tuggle, M B; Prentice, M F (2001) Building a gateway to promote cardiovascular health research in African-American communities: lessons and findings from the field. Am J Med Sci 322:288-93

Showing the most recent 10 out of 65 publications