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Human Mutation|December 24, 2002
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effectsCatarina Campbell, Midori Mitui, Laura Eng, et al.Annals of Clinical and Translational Neurology|April 1, 2024
Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD studyChristian Rummey, Susan Perlman, Sub H Subramony, et al.Neurophotonics|September 27, 2017
Investigation of the sensitivity of functional near-infrared spectroscopy brain imaging to anatomical variations in 5- to 11-year-old childrenAshley C Whiteman, Hendrik Santosa, Daniel F Chen, et al.Neurology and Therapy|June 2, 2025
Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use ConsiderationsSusan Perlman, Mathieu Anheim, Sylvia Boesch, et al.Human Molecular Genetics|April 25, 2014
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2Brent L Fogel, Ellen Cho, Amanda Wahnich, et al.Human Mutation|January 12, 2005
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28aGabriela Coutinho, Jiuyong Xie, Liutao Du, et al.Genomics|December 28, 2011
Common copy number variations in fifty radiosensitive cell linesXinmin Li, Jian Zhou, Shareef A Nahas, et al.Proceedings of the National Academy of Sciences of the United States of America|November 13, 2013
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codonsChristiane Kuschal, John J DiGiovanna, Sikandar G Khan, et al.Journal of Pediatric Hematology/Oncology|January 7, 2010
Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiationBarbara Maria Pietrucha, Edyta Heropolitańska-Pliszka, Anna Wakulińska, et al.Mutation Research|May 12, 2009
N-acetyl cysteine protects against ionizing radiation-induced DNA damage but not against cell killing in yeast and mammalsRamune Reliene, Julianne M Pollard, Zhanna Sobol, et al.Pageof 19