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Neurology. Clinical Practice|May 16, 2024
Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome MeasureJamison Seabury, Anika Varma, Jennifer Weinstein, et al.Journal of Neurology|June 19, 2013
Analysis of the visual system in Friedreich ataxiaLauren A Seyer, Kristin Galetta, James Wilson, et al.Scientific Reports|April 16, 2021
Functional NMDA receptors are expressed by human pulmonary artery smooth muscle cellsYi Na Dong, Fu-Chun Hsu, Cynthia J Koziol-White, et al.Annals of Clinical and Translational Neurology|May 5, 2021
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohortChristian Rummey, John M Flynn, Louise A Corben, et al.Journal of Child Neurology|April 14, 2016
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone DeficiencyJulianna E Shinnick, Kimberly Schadt, Cassandra Strawser, et al.Journal of Medical Genetics|December 13, 2012
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DSDonna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, et al.Journal of the Neurological Sciences|January 6, 2020
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohortEmily Xiong, Abigail E Lynch, Louise A Corben, et al.Annals of Neurology|December 26, 2015
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxiaCharles A Galea, Aamira Huq, Paul J Lockhart, et al.Molecular Therapy. Methods & Clinical Development|February 14, 2024
AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxiaJoshua C Chang, Molly R Ryan, Marie C Stark, et al.The Journal of Clinical Endocrinology and Metabolism|August 7, 2024
Insulin Sensitivity and Insulin Secretion in Adults With Friedreich's Ataxia: The Role of Skeletal MuscleJaclyn Tamaroff, Sara Nguyen, Neil E Wilson, et al.Pageof 24