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American Journal of Medical Genetics. Part A|March 25, 2004
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutationsGabriela Coutinho, Midori Mitui, Catarina Campbell, et al.
Annals of Neurology|December 14, 2011
A gene expression phenotype in lymphocytes from Friedreich ataxia patientsGiovanni Coppola, Ryan Burnett, Susan Perlman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2025
Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trialsCynthia J Tifft, Isabela Batsu, Roberto Giugliani, et al.
Cerebellum (London, England)|September 1, 2025
Content Validity of the Spinocerebellar Ataxia Composite Score as a Measure of Disease Progression in Patients with Spinocerebellar AtaxiaMichele Potashman, Maggie Heinrich, Katja Rudell, et al.
Plos One|June 4, 2014
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersDouglas R Stewart, Alexander Pemov, Jennifer J Johnston, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|November 19, 2009
High-throughput screening identifies two classes of antibiotics as radioprotectors: tetracyclines and fluoroquinolonesKwanghee Kim, Julianne M Pollard, Andrew J Norris, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 23, 2021
Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial SensorsVrutangkumar V Shah, Roberto Rodriguez-Labrada, Fay B Horak, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2010
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial designLisa S Friedman, Jennifer M Farmer, Susan Perlman, et al.
Science Translational Medicine|November 22, 2019
Impaired ATM activation in B cells is associated with bone resorption in rheumatoid arthritisKofi A Mensah, Jeff W Chen, Jean-Nicolas Schickel, et al.
Neurology. Genetics|June 26, 2020
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohortDona Aboud Syriani, Darice Wong, Sameer Andani, et al.
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