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Annals of Neurology|October 1, 2008
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severityRishika A Pace, Rachel A Peat, Naomi L Baker, 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 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.
American Journal of Human Genetics|March 5, 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian DiseaseHernan D Gonorazky, Sergey Naumenko, Arun K Ramani, et al.
Nature Communications|February 26, 2016
Chlamydia trachomatis from Australian Aboriginal people with trachoma are polyphyletic composed of multiple distinctive lineagesPatiyan Andersson, Simon R Harris, Helena M B Seth Smith, et al.
Neurology. Genetics|November 17, 2021
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures StudyMaya Patel, Ashley McCormick, Jaclyn Tamaroff, et al.
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