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Cerebellum (London, England)|August 6, 2013
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13S H Subramony, Joel Advincula, Susan Perlman, et al.
Human Mutation|December 26, 2003
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengthsLaura Eng, Gabriela Coutinho, Shareef Nahas, et al.
Human Mutation|October 19, 2011
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasiaKotoka Nakamura, Liutao Du, Rashmi Tunuguntla, et al.
Brain Communications|June 7, 2024
Long non-coding RNA TUG1 is downregulated in Friedreich's ataxiaMert Koka, Hui Li, Rumana Akther, et al.
Human Mutation|May 10, 2005
ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasiaGeoff W Birrell, Katherine Kneebone, Michael Nefedov, et al.
Neurogenetics|May 4, 2012
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotideCecilia Mancini, Giovanna Vaula, Laura Scalzitti, et al.
Radiation Research|October 4, 2011
Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survivalShareef A Nahas, Robert Davies, Francesca Fike, et al.
Arthritis and Rheumatism|September 10, 2011
Defective DNA double-strand break repair in pediatric systemic lupus erythematosusRobert C Davies, Kelly Pettijohn, Francesca Fike, et al.
The Journal of Experimental Medicine|January 20, 2005
Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cellsQiang Pan-Hammarström, Anne-Marie Jones, Aleksi Lähdesmäki, et al.
DNA Repair|January 24, 2006
Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activityJimena V Goldstine, Shareef Nahas, Kristin Gamo, et al.
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