DNA TRIPLEX STRUCTURES IN HUMAN DISEASE

Rajeswari R. Moganty
Department of Biochemistry, All India Institute of Medical Sciences, New Delhi-110029

KEYWORS: “unusual” DNA structure, human hereditary disorders, the triplet repeat expansion (TRE), Friedreich's ataxia, GAA repeats, Frataxin gene.

Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia

The American Journal of Cardiology, , Available online 10 November 2011, doi:10.1016/j.amjcard.2011.09.025

Sean R. Regner, Sarah J. Lagedrost, Ted Plappert, Erin K. Paulsen, Lisa S. Friedman, Madeline L. Snyder, Susan L. Perlman, Katherine D. Mathews, George R. Wilmot, Kimberly A. Schadt, Martin St. John Sutton, David R. Lynch

Keywords: Friedreich ataxia (FA), cardiomyopathy, echocardiograms, disease duration, subject age, age of onset, functional disability score, GAA repeat length, systolic dysfunction, diastolic dysfunction, hypertrophy.

Annual change in Friedreich's ataxia evaluated by the scale for the assessment and rating of ataxia (SARA) is independent of disease severity

Movement Disorders. doi: 10.1002/mds.23879, Article first published online: 10 NOV 2011

Marelli, C., Figoni, J., Charles, P., Anheim, M., Tchikviladze, M., Vincitorio, C.-M., du Montcel, S. T., Brice, A., Golmard, J. L. and Dürr, A.

"In future therapeutic trials no patient stratification is globally required."

Keywords: Friedreich's ataxia, SARA, clinical rating scale, disease progression