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Movement Disorders : Official Journal of the Movement Disorder Society|June 11, 2025
Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease PathologyChristian Rummey, Gilbert Thomas-Black, Hector Garcia-Moreno, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletionAmy Kao, Juliana Mariani, Donna M McDonald-McGinn, et al.
Muscle & Nerve|April 11, 2016
Effects of genetic severity on glucose homeostasis in Friedreich ataxiaCharles J Isaacs, Karlla W Brigatti, Olena Kucheruk, et al.
American Journal of Obstetrics and Gynecology|May 19, 2010
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implicationsLisa S Friedman, Erin K Paulsen, Kimberly A Schadt, et al.
Bioanalysis|August 22, 2015
Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia plateletsAndrew J Worth, Sankha S Basu, Eric C Deutsch, et al.
Frontiers in Neuroscience|April 4, 2022
Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's AtaxiaJulia Dunn, Jaclyn Tamaroff, Anna DeDio, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 12, 2015
Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's AtaxiaYanjie Li, Urszula Polak, Angela D Bhalla, et al.
Disease Models & Mechanisms|November 11, 2017
Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxiaHong Lin, Jordi Magrane, Amy Rattelle, et al.
Diabetes Research and Clinical Practice|March 18, 2022
Friedreich's Ataxia related Diabetes: Epidemiology and management practicesJaclyn Tamaroff, Anna DeDio, Kristin Wade, et al.
Stem Cell Research|March 22, 2026
Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutationPouiré Yameogo, Brandon J Gerhart, Monica F Sentmanat, et al.
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