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Human Molecular Genetics|July 4, 2007
Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cellsMark Ambrose, Jimena V Goldstine, Richard A GattiCerebellum (London, England)|September 4, 2009
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2Brent L Fogel, Ji Yong Lee, Susan PerlmanNeurology|April 7, 2022
Emerging Subspecialties in Neurology: A Career as a Clinical Trialist in NeurologyKatherine A Fu, Jeffrey L Saver, Susan PerlmanEuropean Journal of Human Genetics : EJHG|December 6, 2012
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)Simona Cavalieri, Elisa Pozzi, Richard A Gatti, et al.International Journal of Radiation Oncology, Biology, Physics|March 9, 2005
Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathwayShareef A Nahas, Chih-Hung Lai, Richard A GattiBritish Medical Bulletin|June 26, 2007
Current and potential therapeutic strategies for the treatment of ataxia-telangiectasiaMartin F Lavin, Nuri Gueven, Stephen Bottle, et al.Human Genetics|April 22, 2005
ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotypeMahnoush Babaei, Midori Mitui, Eric R Olson, et al.Mutation Research|March 7, 2008
Rapid screen for truncating ATM mutations by PTT-ELISALiutao Du, Chih-Hung Lai, Patrick Concannon, et al.Neurogenetics|May 16, 2008
A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genesBrent L Fogel, Pari Young, Arthur R Thompson, et al.Neuropathology : Official Journal of the Japanese Society of Neuropathology|October 8, 2011
Heterotopic Purkinje cells in ataxia-telangiectasiaAlexander R Bottini, Richard A Gatti, Martin Wirenfeldt, et al.Pageof 19