Abstract

The aims of this protocol are to determine the clinical, biochemical, muscle strength, muscle function, pulmonary function, EMG, and molecular genetic status of acid maltase deficiency patients. Interventions such as low carbohydrate diet, moderate daily exercise, and daily oral ephedrine therapy will be assessed at designated intervals.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000096-36
Application #
6246875
Study Section
Project Start
1997-02-12
Project End
1997-11-30
Budget Start
1996-10-01
Budget End
1997-09-30
Support Year
36
Fiscal Year
1997
Total Cost
Indirect Cost

  Institution

Name
New York University
Department
Type
DUNS #
City
New York
State
NY
Country
United States
Zip Code
10016

  Publications

Jun, Gyungah R; Chung, Jaeyoon; Mez, Jesse et al. (2017) Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimers Dement 13:727-738
Homann, O R; Misura, K; Lamas, E et al. (2016) Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. Mol Psychiatry 21:1690-1695
Ridge, Perry G; Hoyt, Kaitlyn B; Boehme, Kevin et al. (2016) Assessment of the genetic variance of late-onset Alzheimer's disease. Neurobiol Aging 41:200.e13-200.e20
Hohman, Timothy J; Bush, William S; Jiang, Lan et al. (2016) Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium. Neurobiol Aging 38:141-150
Jun, G; Ibrahim-Verbaas, C A; Vronskaya, M et al. (2016) A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry 21:108-17
Ebbert, Mark T W; Boehme, Kevin L; Wadsworth, Mark E et al. (2016) Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk. Alzheimers Dement 12:121-129
Hohman, Timothy J; Cooke-Bailey, Jessica N; Reitz, Christiane et al. (2016) Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. Alzheimers Dement 12:233-43
Li, Yi; Tsui, Wai; Rusinek, Henry et al. (2015) Cortical laminar binding of PET amyloid and tau tracers in Alzheimer disease. J Nucl Med 56:270-3
Ghani, Mahdi; Reitz, Christiane; Cheng, Rong et al. (2015) Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. JAMA Neurol 72:1313-23
Beecham, Gary W; Dickson, Dennis W; Scott, William K et al. (2015) PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease. Neurology 84:972-80

Showing the most recent 10 out of 470 publications