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Neurology. Genetics|August 2, 2018
Longitudinal analysis of contrast acuity in Friedreich ataxiaAli G Hamedani, Lauren A Hauser, Susan Perlman, et al.Human Mutation|January 29, 2003
Comprehensive scanning of the ATM gene with DOVAM-SCarolyn H Buzin, Richard A Gatti, Vu Q Nguyen, et al.Human Mutation|June 20, 2003
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rateMidori Mitui, Catarina Campbell, Gabriela Coutinho, et al.The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 5, 2009
Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatmentRochelle A Yanofsky, Sashi S Seshia, Angelika J Dawson, et al.Neurology|December 1, 2022
Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 GangliosidosesKyriakos Martakis, Jens Claassen, Jordi Gascon-Bayari, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 3, 2026
Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia CohortAnnie Chen, Udbhav Avadhani, Kathie Ngo, et al.Journal of the Neurological Sciences|June 24, 2008
Health related quality of life measures in Friedreich AtaxiaElizabeth Epstein, Jennifer M Farmer, Amy Tsou, et al.Journal of Neurology|December 3, 2022
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxiaDavid R Lynch, Katherine D Mathews, Susan Perlman, et al.JAMA Neurology|August 19, 2014
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxiaBrent L Fogel, Hane Lee, Joshua L Deignan, et al.Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology|December 4, 2012
Aberrant overexpression of miR-421 downregulates ATM and leads to a pronounced DSB repair defect and clinical hypersensitivity in SKX squamous cell carcinomaWael Y Mansour, Natalia V Bogdanova, Ulla Kasten-Pisula, et al.Pageof 19