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Molecular Genetics & Genomic Medicine|August 1, 2014
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicityKotoka Nakamura, Francesca Fike, Sara Haghayegh, et al.
Pediatric Cardiology|March 1, 2024
Characterization of Cardiac-Onset Initial Presentation in Friedreich AtaxiaDavid R Lynch, Sub Subramony, Kimberly Y Lin, et al.
The Journal of Rheumatology|November 13, 2008
MAGE-B2 autoantibody: a new biomarker for pediatric systemic lupus erythematosusAlice D C Hoftman, Lei-Qian Tai, Sheila Tze, et al.
Nature Reviews. Neurology|March 3, 2025
A global perspective on research advances and future challenges in Friedreich ataxiaElisabetta Indelicato, Martin B Delatycki, Jennifer Farmer, et al.
Haematologica|January 12, 2005
Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patientsMaria Celeste Bento, Ko Tung Chang, Yongli Guan, et al.
Molecular Genetics and Metabolism|December 5, 2003
Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expressionHelen H Chun, Xia Sun, Shareef A Nahas, et al.
Genomics|May 12, 2005
A 700-kb physical and transcription map of the cervical cancer tumor suppressor gene locus on chromosome 11q13Kayvan Zainabadi, Payam Benyamini, Rita Chakrabarti, et al.
Plos Genetics|May 23, 2013
ATM-dependent MiR-335 targets CtIP and modulates the DNA damage responseNathan T Martin, Kotoka Nakamura, Robert Davies, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 23, 2004
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codonsChih-Hung Lai, Helen H Chun, Shareef A Nahas, et al.
The Turkish Journal of Pediatrics|October 27, 2004
Defective anti-polysaccharide antibody response in patients with ataxia-telangiectasiaOzden Sanal, Filiz Ozbaş-Gerçeker, Leman Yel, et al.
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