Ataxia–telangiectasia (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Ataxia–telangiectasia" in English language version.

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Shiloh Y, Kastan MB (2001). "ATM: genome stability, neuronal development, and cancer cross paths". Advances in Cancer Research. 83: 209–54. doi:10.1016/s0065-230x(01)83007-4. ISBN 9780120066834. PMID 11665719.

clinicaltrials.gov

Clinical trial number NCT03759678 for "N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)" at ClinicalTrials.gov
Clinical trial number NCT03759639 for "N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)" at ClinicalTrials.gov
Clinical trial number NCT03759665 for "N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease)" at ClinicalTrials.gov

doi.org

Louis-Bar D (1941). "Sur un syndrome progressif cormprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux". Confinia Neurologica. 4 (1–2): 32–42. doi:10.1159/000106149.
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (June 1995). "A single ataxia telangiectasia gene with a product similar to PI-3 kinase". Science. 268 (5218): 1749–53. Bibcode:1995Sci...268.1749S. doi:10.1126/science.7792600. PMID 7792600.
Shiloh Y, Kastan MB (2001). "ATM: genome stability, neuronal development, and cancer cross paths". Advances in Cancer Research. 83: 209–54. doi:10.1016/s0065-230x(01)83007-4. ISBN 9780120066834. PMID 11665719.
Cabana MD, Crawford TO, Winkelstein JA, Christensen JR, Lederman HM (July 1998). "Consequences of the delayed diagnosis of ataxia–telangiectasia". Pediatrics. 102 (1 Pt 1): 98–100. doi:10.1542/peds.102.1.98. PMID 9651420. S2CID 22538515.
Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM (1998). "ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer". American Journal of Human Genetics. 62 (2): 334–345. doi:10.1086/301706. PMC 1376883. PMID 9463314.
Dörk T, Bendix-Waltes R, Wegner RD, Stumm M (2004). "Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations". American Journal of Medical Genetics. 126A (3): 272–277. doi:10.1002/ajmg.a.20601. PMID 15054841. S2CID 22090621.
van Os NJ, Chessa L, Weemaes CM, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AM, Van de Warrenburg BP, Dörk T, Willemsen MA (2019). "Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations". Journal of Medical Genetics. 56 (5): 308–316. doi:10.1136/jmedgenet-2018-105635. PMID 30819809.
Asadollahi R, Britschgi C, Joset P, Oneda B, Schindler D, Meier UR, Rauch A (August 2020). "Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)". Molecular Genetics & Genomic Medicine. 8 (10): e1409. doi:10.1002/mgg3.1409. PMC 7549565. PMID 32748564.
Crawford TO (December 1998). "Ataxia telangiectasia". Seminars in Pediatric Neurology. 5 (4): 287–94. doi:10.1016/s1071-9091(98)80007-7. PMID 9874856.
Crawford TO, Mandir AS, Lefton-Greif MA, Goodman SN, Goodman BK, Sengul H, Lederman HM (April 2000). "Quantitative neurologic assessment of ataxia–telangiectasia". Neurology. 54 (7): 1505–9. doi:10.1212/wnl.54.7.1505. PMID 10751267. S2CID 24908122.
Lavin MF, Gueven N, Bottle S, Gatti RA (2007). "Current and potential therapeutic strategies for the treatment of ataxia–telangiectasia". British Medical Bulletin. 81–82: 129–47. doi:10.1093/bmb/ldm012. PMID 17586848.
Lin DD, Barker PB, Lederman HM, Crawford TO (January 2014). "Cerebral abnormalities in adults with ataxia–telangiectasia". AJNR. American Journal of Neuroradiology. 35 (1): 119–23. doi:10.3174/ajnr.A3646. PMC 4106125. PMID 23886747.
Rothblum-Oviatt, Cynthia; Wright, Jennifer; Lefton-Greif, Maureen A.; McGrath-Morrow, Sharon A.; Crawford, Thomas O.; Lederman, Howard M. (2016-11-25). "Ataxia telangiectasia: a review". Orphanet Journal of Rare Diseases. 11 (1): 159. doi:10.1186/s13023-016-0543-7. ISSN 1750-1172. PMC 5123280. PMID 27884168.
Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM (April 2004). "Immunodeficiency and infections in ataxia–telangiectasia". The Journal of Pediatrics. 144 (4): 505–11. doi:10.1016/j.jpeds.2003.12.046. PMID 15069401.
Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM (August 2011). "Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours". British Journal of Cancer. 105 (4): 586–91. doi:10.1038/bjc.2011.266. PMC 3170966. PMID 21792198.
Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF (June 2005). "Cancer risks and mortality in heterozygous ATM mutation carriers". Journal of the National Cancer Institute. 97 (11): 813–22. doi:10.1093/jnci/dji141. PMID 15928302.
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N, et al. (Breast Cancer Susceptibility Collaboration, (UK)) (August 2006). "ATM mutations that cause ataxia–telangiectasia are breast cancer susceptibility alleles". Nature Genetics. 38 (8): 873–5. doi:10.1038/ng1837. PMID 16832357. S2CID 2909283.
Paller AS, Massey RB, Curtis MA, Pelachyk JM, Dombrowski HC, Leickly FE, Swift M (December 1991). "Cutaneous granulomatous lesions in patients with ataxia–telangiectasia". The Journal of Pediatrics. 119 (6): 917–22. doi:10.1016/s0022-3476(05)83043-4. PMID 1960607.
McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, Brody AS, Langston C, Fan LL, Lefton-Greif MA, Crawford TO, Troche M, Sandlund JT, Auwaerter PG, Easley B, Loughlin GM, Carroll JL, Lederman HM (September 2010). "Evaluation and management of pulmonary disease in ataxia–telangiectasia". Pediatric Pulmonology. 45 (9): 847–59. doi:10.1002/ppul.21277. PMC 4151879. PMID 20583220.
Lefton-Greif MA, Crawford TO, Winkelstein JA, Loughlin GM, Koerner CB, Zahurak M, Lederman HM (February 2000). "Oropharyngeal dysphagia and aspiration in patients with ataxia–telangiectasia". The Journal of Pediatrics. 136 (2): 225–31. doi:10.1016/s0022-3476(00)70106-5. PMID 10657830.
Farr AK, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX (December 2002). "Ocular manifestations of ataxia–telangiectasia". American Journal of Ophthalmology. 134 (6): 891–6. doi:10.1016/s0002-9394(02)01796-8. PMID 12470759.
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K (December 1988). "Localization of an ataxia–telangiectasia gene to chromosome 11q22-23". Nature. 336 (6199): 577–80. Bibcode:1988Natur.336..577G. doi:10.1038/336577a0. PMID 3200306. S2CID 4255660.
Derheimer FA, Kastan MB (September 2010). "Multiple roles of ATM in monitoring and maintaining DNA integrity". FEBS Letters. 584 (17): 3675–81. doi:10.1016/j.febslet.2010.05.031. PMC 2950315. PMID 20580718.
Kurz EU, Lees-Miller SP (Aug–Sep 2004). "DNA damage-induced activation of ATM and ATM-dependent signaling pathways". DNA Repair. 3 (8–9): 889–900. doi:10.1016/j.dnarep.2004.03.029. PMID 15279774.
Dar I, Biton S, Shiloh Y, Barzilai A (July 2006). "Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons". The Journal of Neuroscience. 26 (29): 7767–74. doi:10.1523/JNEUROSCI.2055-06.2006. PMC 6674276. PMID 16855104.
Gorodetsky E, Calkins S, Ahn J, Brooks PJ (November 2007). "ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain". DNA Repair. 6 (11): 1698–707. doi:10.1016/j.dnarep.2007.06.011. PMC 2797317. PMID 17706468.
Valentin-Vega YA, Maclean KH, Tait-Mulder J, Milasta S, Steeves M, Dorsey FC, Cleveland JL, Green DR, Kastan MB (February 2012). "Mitochondrial dysfunction in ataxia–telangiectasia". Blood. 119 (6): 1490–500. doi:10.1182/blood-2011-08-373639. PMC 3286212. PMID 22144182.
Guo Z, Kozlov S, Lavin MF, Person MD, Paull TT (October 2010). "ATM activation by oxidative stress". Science. 330 (6003): 517–21. Bibcode:2010Sci...330..517G. doi:10.1126/science.1192912. hdl:2152/9689. PMID 20966255. S2CID 206527888.
Bakkenist CJ, Kastan MB (January 2003). "DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation". Nature. 421 (6922): 499–506. Bibcode:2003Natur.421..499B. doi:10.1038/nature01368. PMID 12556884. S2CID 4403303.
Kanu N, Behrens A (November 2008). "ATMINistrating ATM signalling: regulation of ATM by ATMIN". Cell Cycle. 7 (22): 3483–6. doi:10.4161/cc.7.22.7044. PMID 19001856.
Shiloh Y (March 2003). "ATM and related protein kinases: safeguarding genome integrity". Nature Reviews. Cancer. 3 (3): 155–68. doi:10.1038/nrc1011. PMID 12612651. S2CID 22770833.
Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley JN, Ried T, Tagle D, Wynshaw-Boris A (July 1996). "Atm-deficient mice: a paradigm of ataxia telangiectasia". Cell. 86 (1): 159–71. doi:10.1016/S0092-8674(00)80086-0. PMID 8689683. S2CID 11922073.
Plug AW, Peters AH, Xu Y, Keegan KS, Hoekstra MF, Baltimore D, de Boer P, Ashley T (December 1997). "ATM and RPA in meiotic chromosome synapsis and recombination". Nature Genetics. 17 (4): 457–61. doi:10.1038/ng1297-457. PMID 9398850. S2CID 193465.
Barchi M, Roig I, Di Giacomo M, de Rooij DG, Keeney S, Jasin M (May 2008). "ATM promotes the obligate XY crossover and both crossover control and chromosome axis integrity on autosomes". PLOS Genetics. 4 (5): e1000076. doi:10.1371/journal.pgen.1000076. PMC 2374915. PMID 18497861.
Lumsden JM, McCarty T, Petiniot LK, Shen R, Barlow C, Wynn TA, Morse HC, Gearhart PJ, Wynshaw-Boris A, Max EE, Hodes RJ (November 2004). "Immunoglobulin class switch recombination is impaired in Atm-deficient mice". The Journal of Experimental Medicine. 200 (9): 1111–21. doi:10.1084/jem.20041074. PMC 2211853. PMID 15504820.
Franco S, Alt FW, Manis JP (September 2006). "Pathways that suppress programmed DNA breaks from progressing to chromosomal breaks and translocations". DNA Repair. 5 (9–10): 1030–41. doi:10.1016/j.dnarep.2006.05.024. PMID 16934538.
Callén E, Jankovic M, Wong N, Zha S, Chen HT, Difilippantonio S, Di Virgilio M, Heidkamp G, Alt FW, Nussenzweig A, Nussenzweig M (May 2009). "Essential role for DNA-PKcs in DNA double-strand break repair and apoptosis in ATM-deficient lymphocytes". Molecular Cell. 34 (3): 285–97. doi:10.1016/j.molcel.2009.04.025. PMC 2709792. PMID 19450527.
Bagley J, Singh G, Iacomini J (April 2007). "Regulation of oxidative stress responses by ataxia–telangiectasia mutated is required for T cell proliferation". Journal of Immunology. 178 (8): 4757–63. doi:10.4049/jimmunol.178.8.4757. PMID 17404255.
Bredemeyer AL, Sharma GG, Huang CY, Helmink BA, Walker LM, Khor KC, Nuskey B, Sullivan KE, Pandita TK, Bassing CH, Sleckman BP (July 2006). "ATM stabilizes DNA double-strand-break complexes during V(D)J recombination". Nature. 442 (7101): 466–70. Bibcode:2006Natur.442..466B. doi:10.1038/nature04866. PMID 16799570. S2CID 4320129.
Bredemeyer AL, Huang CY, Walker LM, Bassing CH, Sleckman BP (August 2008). "Aberrant V(D)J recombination in ataxia telangiectasia mutated-deficient lymphocytes is dependent on nonhomologous DNA end joining". Journal of Immunology. 181 (4): 2620–5. doi:10.4049/jimmunol.181.4.2620. PMC 3598579. PMID 18684952.
Bredemeyer AL, Helmink BA, Innes CL, Calderon B, McGinnis LM, Mahowald GK, Gapud EJ, Walker LM, Collins JB, Weaver BK, Mandik-Nayak L, Schreiber RD, Allen PM, May MJ, Paules RS, Bassing CH, Sleckman BP (December 2008). "DNA double-strand breaks activate a multi-functional genetic program in developing lymphocytes". Nature. 456 (7223): 819–23. Bibcode:2008Natur.456..819B. doi:10.1038/nature07392. PMC 2605662. PMID 18849970.
Callén E, Jankovic M, Difilippantonio S, Daniel JA, Chen HT, Celeste A, Pellegrini M, McBride K, Wangsa D, Bredemeyer AL, Sleckman BP, Ried T, Nussenzweig M, Nussenzweig A (July 2007). "ATM prevents the persistence and propagation of chromosome breaks in lymphocytes". Cell. 130 (1): 63–75. doi:10.1016/j.cell.2007.06.016. PMID 17599403. S2CID 17514413.
Shiloh Y, Tabor E, Becker Y (July 1982). "Colony-forming ability of ataxia–telangiectasia skin fibroblasts is an indicator of their early senescence and increased demand for growth factors". Experimental Cell Research. 140 (1): 191–9. doi:10.1016/0014-4827(82)90169-0. PMID 6213420.
Inomata K, Aoto T, Binh NT, Okamoto N, Tanimura S, Wakayama T, Iseki S, Hara E, Masunaga T, Shimizu H, Nishimura EK (June 2009). "Genotoxic stress abrogates renewal of melanocyte stem cells by triggering their differentiation". Cell. 137 (6): 1088–99. doi:10.1016/j.cell.2009.03.037. hdl:2297/19337. PMID 19524511. S2CID 16630060.
Stray-Pedersen A, Borresen-Dale AL, Paus E, Lindman CR, Burgers T, Abrahamsen TG (November 2007). "Alpha fetoprotein is increasing with age in ataxia–telangiectasia". European Journal of Paediatric Neurology. 11 (6): 375–80. doi:10.1016/j.ejpn.2007.04.001. PMID 17540590.
Biton S, Dar I, Mittelman L, Pereg Y, Barzilai A, Shiloh Y (June 2006). "Nuclear ataxia–telangiectasia mutated (ATM) mediates the cellular response to DNA double strand breaks in human neuron-like cells". The Journal of Biological Chemistry. 281 (25): 17482–91. doi:10.1074/jbc.M601895200. PMID 16627474.
Herzog KH, Chong MJ, Kapsetaki M, Morgan JI, McKinnon PJ (May 1998). "Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system". Science. 280 (5366): 1089–91. Bibcode:1998Sci...280.1089H. doi:10.1126/science.280.5366.1089. PMID 9582124.
Lee Y, Chong MJ, McKinnon PJ (September 2001). "Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status". The Journal of Neuroscience. 21 (17): 6687–93. doi:10.1523/JNEUROSCI.21-17-06687.2001. PMC 6763074. PMID 11517258.
Sordet O, Redon CE, Guirouilh-Barbat J, Smith S, Solier S, Douarre C, Conti C, Nakamura AJ, Das BB, Nicolas E, Kohn KW, Bonner WM, Pommier Y (August 2009). "Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks". EMBO Reports. 10 (8): 887–93. doi:10.1038/embor.2009.97. PMC 2726680. PMID 19557000.
Das BB, Antony S, Gupta S, Dexheimer TS, Redon CE, Garfield S, Shiloh Y, Pommier Y (December 2009). "Optimal function of the DNA repair enzyme TDP1 requires its phosphorylation by ATM and/or DNA-PK". The EMBO Journal. 28 (23): 3667–80. doi:10.1038/emboj.2009.302. PMC 2790489. PMID 19851285.
Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, Yurov YB (July 2009). "Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia–telangiectasia brain". Human Molecular Genetics. 18 (14): 2656–69. doi:10.1093/hmg/ddp207. PMID 19414482.
Alexander A, Cai SL, Kim J, Nanez A, Sahin M, MacLean KH, Inoki K, Guan KL, Shen J, Person MD, Kusewitt D, Mills GB, Kastan MB, Walker CL (March 2010). "ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS". Proceedings of the National Academy of Sciences of the United States of America. 107 (9): 4153–8. Bibcode:2010PNAS..107.4153A. doi:10.1073/pnas.0913860107. PMC 2840158. PMID 20160076.
Cosentino C, Grieco D, Costanzo V (February 2011). "ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair". The EMBO Journal. 30 (3): 546–55. doi:10.1038/emboj.2010.330. PMC 3034007. PMID 21157431.
Biton S, Barzilai A, Shiloh Y (July 2008). "The neurological phenotype of ataxia–telangiectasia: solving a persistent puzzle". DNA Repair. 7 (7): 1028–38. doi:10.1016/j.dnarep.2008.03.006. PMID 18456574.
D'Souza AD, Parish IA, Krause DS, Kaech SM, Shadel GS (January 2013). "Reducing mitochondrial ROS improves disease-related pathology in a mouse model of ataxia–telangiectasia". Molecular Therapy. 21 (1): 42–8. doi:10.1038/mt.2012.203. PMC 3538311. PMID 23011031.
Sharma NK, Lebedeva M, Thomas T, Kovalenko OA, Stumpf JD, Shadel GS, Santos JH (January 2014). "Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia". DNA Repair. 13: 22–31. doi:10.1016/j.dnarep.2013.11.002. PMC 6211587. PMID 24342190.
Yang Y, Herrup K (March 2005). "Loss of neuronal cell cycle control in ataxia–telangiectasia: a unified disease mechanism". The Journal of Neuroscience. 25 (10): 2522–9. doi:10.1523/JNEUROSCI.4946-04.2005. PMC 6725172. PMID 15758161.
Li J, Han YR, Plummer MR, Herrup K (December 2009). "Cytoplasmic ATM in neurons modulates synaptic function". Current Biology. 19 (24): 2091–6. doi:10.1016/j.cub.2009.10.039. PMC 2805770. PMID 19962314.
Li J, Chen J, Ricupero CL, Hart RP, Schwartz MS, Kusnecov A, Herrup K (May 2012). "Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia". Nature Medicine. 18 (5): 783–90. doi:10.1038/nm.2709. PMC 3378917. PMID 22466704.
Herrup K (October 2013). "ATM and the epigenetics of the neuronal genome". Mechanisms of Ageing and Development. 134 (10): 434–9. doi:10.1016/j.mad.2013.05.005. PMC 3791148. PMID 23707635.
Li J, Hart RP, Mallimo EM, Swerdel MR, Kusnecov AW, Herrup K (December 2013). "EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia–telangiectasia". Nature Neuroscience. 16 (12): 1745–53. doi:10.1038/nn.3564. PMC 3965909. PMID 24162653.
Jiang D, Zhang Y, Hart RP, Chen J, Herrup K, Li J (December 2015). "Alteration in 5-hydroxymethylcytosine-mediated epigenetic regulation leads to Purkinje cell vulnerability in ATM deficiency". Brain. 138 (Pt 12): 3520–36. doi:10.1093/brain/awv284. PMC 4668921. PMID 26510954.
Wood LM, Sankar S, Reed RE, Haas AL, Liu LF, McKinnon P, Desai SD (January 2011). "A novel role for ATM in regulating proteasome-mediated protein degradation through suppression of the ISG15 conjugation pathway". PLOS ONE. 6 (1): e16422. Bibcode:2011PLoSO...616422W. doi:10.1371/journal.pone.0016422. PMC 3027683. PMID 21298066.
Sun X, Becker-Catania SG, Chun HH, Hwang MJ, Huo Y, Wang Z, Mitui M, Sanal O, Chessa L, Crandall B, Gatti RA (June 2002). "Early diagnosis of ataxia–telangiectasia using radiosensitivity testing". The Journal of Pediatrics. 140 (6): 724–31. doi:10.1067/mpd.2002.123879. PMID 12072877.
Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA (December 2003). "Improved diagnostic testing for ataxia–telangiectasia by immunoblotting of nuclear lysates for ATM protein expression". Molecular Genetics and Metabolism. 80 (4): 437–43. doi:10.1016/j.ymgme.2003.09.008. PMID 14654357.
Taylor AM, Byrd PJ (October 2005). "Molecular pathology of ataxia telangiectasia". Journal of Clinical Pathology. 58 (10): 1009–15. doi:10.1136/jcp.2005.026062. PMC 1770730. PMID 16189143.
Anheim M, Tranchant C, Koenig M (February 2012). "The autosomal recessive cerebellar ataxias". The New England Journal of Medicine. 366 (7): 636–46. doi:10.1056/NEJMra1006610. hdl:10068/785252. PMID 22335741.
Lefton-Greif MA, Crawford TO, McGrath-Morrow S, Carson KA, Lederman HM (May 2011). "Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia". Orphanet Journal of Rare Diseases. 6: 23. doi:10.1186/1750-1172-6-23. PMC 3116459. PMID 21569628.
Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J, et al. (April 2014). "Consensus paper: management of degenerative cerebellar disorders". Cerebellum. 13 (2): 248–68. doi:10.1007/s12311-013-0531-6. PMC 4344126. PMID 24222635.
Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, et al. (October 2013). "Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series". Journal of Neurology. 260 (10): 2556–61. doi:10.1007/s00415-013-7016-x. PMC 3824630. PMID 23835634.
Schniepp R, Strupp M, Wuehr M, Jahn K, Dieterich M, Brandt T, Feil K (2016). "Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series". Cerebellum & Ataxias. 3: 8. doi:10.1186/s40673-016-0046-2. PMC 4828858. PMID 27073690.
Strupp M, Bayer O, Feil K, Straube A (February 2019). "Prophylactic treatment of migraine with and without aura with acetyl-DL-leucine: a case series". Journal of Neurology. 266 (2): 525–529. doi:10.1007/s00415-018-9155-6. PMID 30547273. S2CID 56148131.
Crawford, T O (2005). "Survival probability in ataxia telangiectasia". Archives of Disease in Childhood. 91 (7): 610–611. doi:10.1136/adc.2006.094268. ISSN 0003-9888. PMC 2082822. PMID 16790721.
Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M (January 2014). "Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial". Orphanet Journal of Rare Diseases. 9 (1): 5. doi:10.1186/1750-1172-9-5. PMC 3904207. PMID 24405665.
Yousefpour P, Chilkoti A (September 2014). "Co-opting biology to deliver drugs". Biotechnology and Bioengineering. 111 (9): 1699–716. doi:10.1002/bit.25307. PMC 4251460. PMID 24916780.

europa.eu

ema.europa.eu

FRANCISCO, Estela Miranda (2018-12-20). "EU/3/18/2059". European Medicines Agency. Retrieved 2019-08-01.

fda.gov

accessdata.fda.gov

"Search Orphan Drug Designations and Approvals". www.accessdata.fda.gov. Retrieved 2019-08-01.
"Search Orphan Drug Designations and Approvals". www.accessdata.fda.gov. Retrieved 2019-08-01.
"Search Orphan Drug Designations and Approvals". www.accessdata.fda.gov. Retrieved 2019-08-01.

handle.net

hdl.handle.net

Guo Z, Kozlov S, Lavin MF, Person MD, Paull TT (October 2010). "ATM activation by oxidative stress". Science. 330 (6003): 517–21. Bibcode:2010Sci...330..517G. doi:10.1126/science.1192912. hdl:2152/9689. PMID 20966255. S2CID 206527888.
Inomata K, Aoto T, Binh NT, Okamoto N, Tanimura S, Wakayama T, Iseki S, Hara E, Masunaga T, Shimizu H, Nishimura EK (June 2009). "Genotoxic stress abrogates renewal of melanocyte stem cells by triggering their differentiation". Cell. 137 (6): 1088–99. doi:10.1016/j.cell.2009.03.037. hdl:2297/19337. PMID 19524511. S2CID 16630060.
Anheim M, Tranchant C, Koenig M (February 2012). "The autosomal recessive cerebellar ataxias". The New England Journal of Medicine. 366 (7): 636–46. doi:10.1056/NEJMra1006610. hdl:10068/785252. PMID 22335741.

harvard.edu

ui.adsabs.harvard.edu

Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (June 1995). "A single ataxia telangiectasia gene with a product similar to PI-3 kinase". Science. 268 (5218): 1749–53. Bibcode:1995Sci...268.1749S. doi:10.1126/science.7792600. PMID 7792600.
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K (December 1988). "Localization of an ataxia–telangiectasia gene to chromosome 11q22-23". Nature. 336 (6199): 577–80. Bibcode:1988Natur.336..577G. doi:10.1038/336577a0. PMID 3200306. S2CID 4255660.
Guo Z, Kozlov S, Lavin MF, Person MD, Paull TT (October 2010). "ATM activation by oxidative stress". Science. 330 (6003): 517–21. Bibcode:2010Sci...330..517G. doi:10.1126/science.1192912. hdl:2152/9689. PMID 20966255. S2CID 206527888.
Bakkenist CJ, Kastan MB (January 2003). "DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation". Nature. 421 (6922): 499–506. Bibcode:2003Natur.421..499B. doi:10.1038/nature01368. PMID 12556884. S2CID 4403303.
Bredemeyer AL, Sharma GG, Huang CY, Helmink BA, Walker LM, Khor KC, Nuskey B, Sullivan KE, Pandita TK, Bassing CH, Sleckman BP (July 2006). "ATM stabilizes DNA double-strand-break complexes during V(D)J recombination". Nature. 442 (7101): 466–70. Bibcode:2006Natur.442..466B. doi:10.1038/nature04866. PMID 16799570. S2CID 4320129.
Bredemeyer AL, Helmink BA, Innes CL, Calderon B, McGinnis LM, Mahowald GK, Gapud EJ, Walker LM, Collins JB, Weaver BK, Mandik-Nayak L, Schreiber RD, Allen PM, May MJ, Paules RS, Bassing CH, Sleckman BP (December 2008). "DNA double-strand breaks activate a multi-functional genetic program in developing lymphocytes". Nature. 456 (7223): 819–23. Bibcode:2008Natur.456..819B. doi:10.1038/nature07392. PMC 2605662. PMID 18849970.
Herzog KH, Chong MJ, Kapsetaki M, Morgan JI, McKinnon PJ (May 1998). "Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system". Science. 280 (5366): 1089–91. Bibcode:1998Sci...280.1089H. doi:10.1126/science.280.5366.1089. PMID 9582124.
Alexander A, Cai SL, Kim J, Nanez A, Sahin M, MacLean KH, Inoki K, Guan KL, Shen J, Person MD, Kusewitt D, Mills GB, Kastan MB, Walker CL (March 2010). "ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS". Proceedings of the National Academy of Sciences of the United States of America. 107 (9): 4153–8. Bibcode:2010PNAS..107.4153A. doi:10.1073/pnas.0913860107. PMC 2840158. PMID 20160076.
Wood LM, Sankar S, Reed RE, Haas AL, Liu LF, McKinnon P, Desai SD (January 2011). "A novel role for ATM in regulating proteasome-mediated protein degradation through suppression of the ISG15 conjugation pathway". PLOS ONE. 6 (1): e16422. Bibcode:2011PLoSO...616422W. doi:10.1371/journal.pone.0016422. PMC 3027683. PMID 21298066.

intrabio.com

"IntraBio". Archived from the original on 2019-08-01. Retrieved 2019-08-01.
"IntraBio". Archived from the original on 2019-08-01. Retrieved 2019-08-01.

nih.gov

pubmed.ncbi.nlm.nih.gov

Boder E (1985). "Ataxia–telangiectasia: an overview". Kroc Foundation Series. 19: 1–63. PMID 2415689.
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y (June 1995). "A single ataxia telangiectasia gene with a product similar to PI-3 kinase". Science. 268 (5218): 1749–53. Bibcode:1995Sci...268.1749S. doi:10.1126/science.7792600. PMID 7792600.
Shiloh Y, Kastan MB (2001). "ATM: genome stability, neuronal development, and cancer cross paths". Advances in Cancer Research. 83: 209–54. doi:10.1016/s0065-230x(01)83007-4. ISBN 9780120066834. PMID 11665719.
Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT (November 1986). "The incidence and gene frequency of ataxia–telangiectasia in the United States". American Journal of Human Genetics. 39 (5): 573–83. PMC 1684065. PMID 3788973.
Cabana MD, Crawford TO, Winkelstein JA, Christensen JR, Lederman HM (July 1998). "Consequences of the delayed diagnosis of ataxia–telangiectasia". Pediatrics. 102 (1 Pt 1): 98–100. doi:10.1542/peds.102.1.98. PMID 9651420. S2CID 22538515.
Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM (1998). "ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer". American Journal of Human Genetics. 62 (2): 334–345. doi:10.1086/301706. PMC 1376883. PMID 9463314.
Dörk T, Bendix-Waltes R, Wegner RD, Stumm M (2004). "Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations". American Journal of Medical Genetics. 126A (3): 272–277. doi:10.1002/ajmg.a.20601. PMID 15054841. S2CID 22090621.
van Os NJ, Chessa L, Weemaes CM, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AM, Van de Warrenburg BP, Dörk T, Willemsen MA (2019). "Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations". Journal of Medical Genetics. 56 (5): 308–316. doi:10.1136/jmedgenet-2018-105635. PMID 30819809.
Asadollahi R, Britschgi C, Joset P, Oneda B, Schindler D, Meier UR, Rauch A (August 2020). "Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)". Molecular Genetics & Genomic Medicine. 8 (10): e1409. doi:10.1002/mgg3.1409. PMC 7549565. PMID 32748564.
Crawford TO (December 1998). "Ataxia telangiectasia". Seminars in Pediatric Neurology. 5 (4): 287–94. doi:10.1016/s1071-9091(98)80007-7. PMID 9874856.
Crawford TO, Mandir AS, Lefton-Greif MA, Goodman SN, Goodman BK, Sengul H, Lederman HM (April 2000). "Quantitative neurologic assessment of ataxia–telangiectasia". Neurology. 54 (7): 1505–9. doi:10.1212/wnl.54.7.1505. PMID 10751267. S2CID 24908122.
Lavin MF, Gueven N, Bottle S, Gatti RA (2007). "Current and potential therapeutic strategies for the treatment of ataxia–telangiectasia". British Medical Bulletin. 81–82: 129–47. doi:10.1093/bmb/ldm012. PMID 17586848.
Lin DD, Barker PB, Lederman HM, Crawford TO (January 2014). "Cerebral abnormalities in adults with ataxia–telangiectasia". AJNR. American Journal of Neuroradiology. 35 (1): 119–23. doi:10.3174/ajnr.A3646. PMC 4106125. PMID 23886747.
Rothblum-Oviatt, Cynthia; Wright, Jennifer; Lefton-Greif, Maureen A.; McGrath-Morrow, Sharon A.; Crawford, Thomas O.; Lederman, Howard M. (2016-11-25). "Ataxia telangiectasia: a review". Orphanet Journal of Rare Diseases. 11 (1): 159. doi:10.1186/s13023-016-0543-7. ISSN 1750-1172. PMC 5123280. PMID 27884168.
Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM (April 2004). "Immunodeficiency and infections in ataxia–telangiectasia". The Journal of Pediatrics. 144 (4): 505–11. doi:10.1016/j.jpeds.2003.12.046. PMID 15069401.
Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM (August 2011). "Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours". British Journal of Cancer. 105 (4): 586–91. doi:10.1038/bjc.2011.266. PMC 3170966. PMID 21792198.
Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF (June 2005). "Cancer risks and mortality in heterozygous ATM mutation carriers". Journal of the National Cancer Institute. 97 (11): 813–22. doi:10.1093/jnci/dji141. PMID 15928302.
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N, et al. (Breast Cancer Susceptibility Collaboration, (UK)) (August 2006). "ATM mutations that cause ataxia–telangiectasia are breast cancer susceptibility alleles". Nature Genetics. 38 (8): 873–5. doi:10.1038/ng1837. PMID 16832357. S2CID 2909283.
Paller AS, Massey RB, Curtis MA, Pelachyk JM, Dombrowski HC, Leickly FE, Swift M (December 1991). "Cutaneous granulomatous lesions in patients with ataxia–telangiectasia". The Journal of Pediatrics. 119 (6): 917–22. doi:10.1016/s0022-3476(05)83043-4. PMID 1960607.
McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, Brody AS, Langston C, Fan LL, Lefton-Greif MA, Crawford TO, Troche M, Sandlund JT, Auwaerter PG, Easley B, Loughlin GM, Carroll JL, Lederman HM (September 2010). "Evaluation and management of pulmonary disease in ataxia–telangiectasia". Pediatric Pulmonology. 45 (9): 847–59. doi:10.1002/ppul.21277. PMC 4151879. PMID 20583220.
Lefton-Greif MA, Crawford TO, Winkelstein JA, Loughlin GM, Koerner CB, Zahurak M, Lederman HM (February 2000). "Oropharyngeal dysphagia and aspiration in patients with ataxia–telangiectasia". The Journal of Pediatrics. 136 (2): 225–31. doi:10.1016/s0022-3476(00)70106-5. PMID 10657830.
Farr AK, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX (December 2002). "Ocular manifestations of ataxia–telangiectasia". American Journal of Ophthalmology. 134 (6): 891–6. doi:10.1016/s0002-9394(02)01796-8. PMID 12470759.
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K (December 1988). "Localization of an ataxia–telangiectasia gene to chromosome 11q22-23". Nature. 336 (6199): 577–80. Bibcode:1988Natur.336..577G. doi:10.1038/336577a0. PMID 3200306. S2CID 4255660.
Derheimer FA, Kastan MB (September 2010). "Multiple roles of ATM in monitoring and maintaining DNA integrity". FEBS Letters. 584 (17): 3675–81. doi:10.1016/j.febslet.2010.05.031. PMC 2950315. PMID 20580718.
Kurz EU, Lees-Miller SP (Aug–Sep 2004). "DNA damage-induced activation of ATM and ATM-dependent signaling pathways". DNA Repair. 3 (8–9): 889–900. doi:10.1016/j.dnarep.2004.03.029. PMID 15279774.
Dar I, Biton S, Shiloh Y, Barzilai A (July 2006). "Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons". The Journal of Neuroscience. 26 (29): 7767–74. doi:10.1523/JNEUROSCI.2055-06.2006. PMC 6674276. PMID 16855104.
Gorodetsky E, Calkins S, Ahn J, Brooks PJ (November 2007). "ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain". DNA Repair. 6 (11): 1698–707. doi:10.1016/j.dnarep.2007.06.011. PMC 2797317. PMID 17706468.
Valentin-Vega YA, Maclean KH, Tait-Mulder J, Milasta S, Steeves M, Dorsey FC, Cleveland JL, Green DR, Kastan MB (February 2012). "Mitochondrial dysfunction in ataxia–telangiectasia". Blood. 119 (6): 1490–500. doi:10.1182/blood-2011-08-373639. PMC 3286212. PMID 22144182.
Guo Z, Kozlov S, Lavin MF, Person MD, Paull TT (October 2010). "ATM activation by oxidative stress". Science. 330 (6003): 517–21. Bibcode:2010Sci...330..517G. doi:10.1126/science.1192912. hdl:2152/9689. PMID 20966255. S2CID 206527888.
Bakkenist CJ, Kastan MB (January 2003). "DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation". Nature. 421 (6922): 499–506. Bibcode:2003Natur.421..499B. doi:10.1038/nature01368. PMID 12556884. S2CID 4403303.
Kanu N, Behrens A (November 2008). "ATMINistrating ATM signalling: regulation of ATM by ATMIN". Cell Cycle. 7 (22): 3483–6. doi:10.4161/cc.7.22.7044. PMID 19001856.
Shiloh Y (March 2003). "ATM and related protein kinases: safeguarding genome integrity". Nature Reviews. Cancer. 3 (3): 155–68. doi:10.1038/nrc1011. PMID 12612651. S2CID 22770833.
Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley JN, Ried T, Tagle D, Wynshaw-Boris A (July 1996). "Atm-deficient mice: a paradigm of ataxia telangiectasia". Cell. 86 (1): 159–71. doi:10.1016/S0092-8674(00)80086-0. PMID 8689683. S2CID 11922073.
Plug AW, Peters AH, Xu Y, Keegan KS, Hoekstra MF, Baltimore D, de Boer P, Ashley T (December 1997). "ATM and RPA in meiotic chromosome synapsis and recombination". Nature Genetics. 17 (4): 457–61. doi:10.1038/ng1297-457. PMID 9398850. S2CID 193465.
Barchi M, Roig I, Di Giacomo M, de Rooij DG, Keeney S, Jasin M (May 2008). "ATM promotes the obligate XY crossover and both crossover control and chromosome axis integrity on autosomes". PLOS Genetics. 4 (5): e1000076. doi:10.1371/journal.pgen.1000076. PMC 2374915. PMID 18497861.
Lumsden JM, McCarty T, Petiniot LK, Shen R, Barlow C, Wynn TA, Morse HC, Gearhart PJ, Wynshaw-Boris A, Max EE, Hodes RJ (November 2004). "Immunoglobulin class switch recombination is impaired in Atm-deficient mice". The Journal of Experimental Medicine. 200 (9): 1111–21. doi:10.1084/jem.20041074. PMC 2211853. PMID 15504820.
Franco S, Alt FW, Manis JP (September 2006). "Pathways that suppress programmed DNA breaks from progressing to chromosomal breaks and translocations". DNA Repair. 5 (9–10): 1030–41. doi:10.1016/j.dnarep.2006.05.024. PMID 16934538.
Callén E, Jankovic M, Wong N, Zha S, Chen HT, Difilippantonio S, Di Virgilio M, Heidkamp G, Alt FW, Nussenzweig A, Nussenzweig M (May 2009). "Essential role for DNA-PKcs in DNA double-strand break repair and apoptosis in ATM-deficient lymphocytes". Molecular Cell. 34 (3): 285–97. doi:10.1016/j.molcel.2009.04.025. PMC 2709792. PMID 19450527.
Bagley J, Singh G, Iacomini J (April 2007). "Regulation of oxidative stress responses by ataxia–telangiectasia mutated is required for T cell proliferation". Journal of Immunology. 178 (8): 4757–63. doi:10.4049/jimmunol.178.8.4757. PMID 17404255.
Bredemeyer AL, Sharma GG, Huang CY, Helmink BA, Walker LM, Khor KC, Nuskey B, Sullivan KE, Pandita TK, Bassing CH, Sleckman BP (July 2006). "ATM stabilizes DNA double-strand-break complexes during V(D)J recombination". Nature. 442 (7101): 466–70. Bibcode:2006Natur.442..466B. doi:10.1038/nature04866. PMID 16799570. S2CID 4320129.
Bredemeyer AL, Huang CY, Walker LM, Bassing CH, Sleckman BP (August 2008). "Aberrant V(D)J recombination in ataxia telangiectasia mutated-deficient lymphocytes is dependent on nonhomologous DNA end joining". Journal of Immunology. 181 (4): 2620–5. doi:10.4049/jimmunol.181.4.2620. PMC 3598579. PMID 18684952.
Bredemeyer AL, Helmink BA, Innes CL, Calderon B, McGinnis LM, Mahowald GK, Gapud EJ, Walker LM, Collins JB, Weaver BK, Mandik-Nayak L, Schreiber RD, Allen PM, May MJ, Paules RS, Bassing CH, Sleckman BP (December 2008). "DNA double-strand breaks activate a multi-functional genetic program in developing lymphocytes". Nature. 456 (7223): 819–23. Bibcode:2008Natur.456..819B. doi:10.1038/nature07392. PMC 2605662. PMID 18849970.
Callén E, Jankovic M, Difilippantonio S, Daniel JA, Chen HT, Celeste A, Pellegrini M, McBride K, Wangsa D, Bredemeyer AL, Sleckman BP, Ried T, Nussenzweig M, Nussenzweig A (July 2007). "ATM prevents the persistence and propagation of chromosome breaks in lymphocytes". Cell. 130 (1): 63–75. doi:10.1016/j.cell.2007.06.016. PMID 17599403. S2CID 17514413.
Shiloh Y, Tabor E, Becker Y (July 1982). "Colony-forming ability of ataxia–telangiectasia skin fibroblasts is an indicator of their early senescence and increased demand for growth factors". Experimental Cell Research. 140 (1): 191–9. doi:10.1016/0014-4827(82)90169-0. PMID 6213420.
Inomata K, Aoto T, Binh NT, Okamoto N, Tanimura S, Wakayama T, Iseki S, Hara E, Masunaga T, Shimizu H, Nishimura EK (June 2009). "Genotoxic stress abrogates renewal of melanocyte stem cells by triggering their differentiation". Cell. 137 (6): 1088–99. doi:10.1016/j.cell.2009.03.037. hdl:2297/19337. PMID 19524511. S2CID 16630060.
Stray-Pedersen A, Borresen-Dale AL, Paus E, Lindman CR, Burgers T, Abrahamsen TG (November 2007). "Alpha fetoprotein is increasing with age in ataxia–telangiectasia". European Journal of Paediatric Neurology. 11 (6): 375–80. doi:10.1016/j.ejpn.2007.04.001. PMID 17540590.
Biton S, Dar I, Mittelman L, Pereg Y, Barzilai A, Shiloh Y (June 2006). "Nuclear ataxia–telangiectasia mutated (ATM) mediates the cellular response to DNA double strand breaks in human neuron-like cells". The Journal of Biological Chemistry. 281 (25): 17482–91. doi:10.1074/jbc.M601895200. PMID 16627474.
Herzog KH, Chong MJ, Kapsetaki M, Morgan JI, McKinnon PJ (May 1998). "Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system". Science. 280 (5366): 1089–91. Bibcode:1998Sci...280.1089H. doi:10.1126/science.280.5366.1089. PMID 9582124.
Lee Y, Chong MJ, McKinnon PJ (September 2001). "Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status". The Journal of Neuroscience. 21 (17): 6687–93. doi:10.1523/JNEUROSCI.21-17-06687.2001. PMC 6763074. PMID 11517258.
Sordet O, Redon CE, Guirouilh-Barbat J, Smith S, Solier S, Douarre C, Conti C, Nakamura AJ, Das BB, Nicolas E, Kohn KW, Bonner WM, Pommier Y (August 2009). "Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks". EMBO Reports. 10 (8): 887–93. doi:10.1038/embor.2009.97. PMC 2726680. PMID 19557000.
Das BB, Antony S, Gupta S, Dexheimer TS, Redon CE, Garfield S, Shiloh Y, Pommier Y (December 2009). "Optimal function of the DNA repair enzyme TDP1 requires its phosphorylation by ATM and/or DNA-PK". The EMBO Journal. 28 (23): 3667–80. doi:10.1038/emboj.2009.302. PMC 2790489. PMID 19851285.
Iourov IY, Vorsanova SG, Liehr T, Kolotii AD, Yurov YB (July 2009). "Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia–telangiectasia brain". Human Molecular Genetics. 18 (14): 2656–69. doi:10.1093/hmg/ddp207. PMID 19414482.
Alexander A, Cai SL, Kim J, Nanez A, Sahin M, MacLean KH, Inoki K, Guan KL, Shen J, Person MD, Kusewitt D, Mills GB, Kastan MB, Walker CL (March 2010). "ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS". Proceedings of the National Academy of Sciences of the United States of America. 107 (9): 4153–8. Bibcode:2010PNAS..107.4153A. doi:10.1073/pnas.0913860107. PMC 2840158. PMID 20160076.
Cosentino C, Grieco D, Costanzo V (February 2011). "ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair". The EMBO Journal. 30 (3): 546–55. doi:10.1038/emboj.2010.330. PMC 3034007. PMID 21157431.
Biton S, Barzilai A, Shiloh Y (July 2008). "The neurological phenotype of ataxia–telangiectasia: solving a persistent puzzle". DNA Repair. 7 (7): 1028–38. doi:10.1016/j.dnarep.2008.03.006. PMID 18456574.
D'Souza AD, Parish IA, Krause DS, Kaech SM, Shadel GS (January 2013). "Reducing mitochondrial ROS improves disease-related pathology in a mouse model of ataxia–telangiectasia". Molecular Therapy. 21 (1): 42–8. doi:10.1038/mt.2012.203. PMC 3538311. PMID 23011031.
Sharma NK, Lebedeva M, Thomas T, Kovalenko OA, Stumpf JD, Shadel GS, Santos JH (January 2014). "Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia". DNA Repair. 13: 22–31. doi:10.1016/j.dnarep.2013.11.002. PMC 6211587. PMID 24342190.
Yang Y, Herrup K (March 2005). "Loss of neuronal cell cycle control in ataxia–telangiectasia: a unified disease mechanism". The Journal of Neuroscience. 25 (10): 2522–9. doi:10.1523/JNEUROSCI.4946-04.2005. PMC 6725172. PMID 15758161.
Li J, Han YR, Plummer MR, Herrup K (December 2009). "Cytoplasmic ATM in neurons modulates synaptic function". Current Biology. 19 (24): 2091–6. doi:10.1016/j.cub.2009.10.039. PMC 2805770. PMID 19962314.
Li J, Chen J, Ricupero CL, Hart RP, Schwartz MS, Kusnecov A, Herrup K (May 2012). "Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia". Nature Medicine. 18 (5): 783–90. doi:10.1038/nm.2709. PMC 3378917. PMID 22466704.
Herrup K (October 2013). "ATM and the epigenetics of the neuronal genome". Mechanisms of Ageing and Development. 134 (10): 434–9. doi:10.1016/j.mad.2013.05.005. PMC 3791148. PMID 23707635.
Li J, Hart RP, Mallimo EM, Swerdel MR, Kusnecov AW, Herrup K (December 2013). "EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia–telangiectasia". Nature Neuroscience. 16 (12): 1745–53. doi:10.1038/nn.3564. PMC 3965909. PMID 24162653.
Jiang D, Zhang Y, Hart RP, Chen J, Herrup K, Li J (December 2015). "Alteration in 5-hydroxymethylcytosine-mediated epigenetic regulation leads to Purkinje cell vulnerability in ATM deficiency". Brain. 138 (Pt 12): 3520–36. doi:10.1093/brain/awv284. PMC 4668921. PMID 26510954.
Wood LM, Sankar S, Reed RE, Haas AL, Liu LF, McKinnon P, Desai SD (January 2011). "A novel role for ATM in regulating proteasome-mediated protein degradation through suppression of the ISG15 conjugation pathway". PLOS ONE. 6 (1): e16422. Bibcode:2011PLoSO...616422W. doi:10.1371/journal.pone.0016422. PMC 3027683. PMID 21298066.
Sun X, Becker-Catania SG, Chun HH, Hwang MJ, Huo Y, Wang Z, Mitui M, Sanal O, Chessa L, Crandall B, Gatti RA (June 2002). "Early diagnosis of ataxia–telangiectasia using radiosensitivity testing". The Journal of Pediatrics. 140 (6): 724–31. doi:10.1067/mpd.2002.123879. PMID 12072877.
Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA (December 2003). "Improved diagnostic testing for ataxia–telangiectasia by immunoblotting of nuclear lysates for ATM protein expression". Molecular Genetics and Metabolism. 80 (4): 437–43. doi:10.1016/j.ymgme.2003.09.008. PMID 14654357.
Taylor AM, Byrd PJ (October 2005). "Molecular pathology of ataxia telangiectasia". Journal of Clinical Pathology. 58 (10): 1009–15. doi:10.1136/jcp.2005.026062. PMC 1770730. PMID 16189143.
Anheim M, Tranchant C, Koenig M (February 2012). "The autosomal recessive cerebellar ataxias". The New England Journal of Medicine. 366 (7): 636–46. doi:10.1056/NEJMra1006610. hdl:10068/785252. PMID 22335741.
Lefton-Greif MA, Crawford TO, McGrath-Morrow S, Carson KA, Lederman HM (May 2011). "Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia". Orphanet Journal of Rare Diseases. 6: 23. doi:10.1186/1750-1172-6-23. PMC 3116459. PMID 21569628.
Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J, et al. (April 2014). "Consensus paper: management of degenerative cerebellar disorders". Cerebellum. 13 (2): 248–68. doi:10.1007/s12311-013-0531-6. PMC 4344126. PMID 24222635.
Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, et al. (October 2013). "Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series". Journal of Neurology. 260 (10): 2556–61. doi:10.1007/s00415-013-7016-x. PMC 3824630. PMID 23835634.
Schniepp R, Strupp M, Wuehr M, Jahn K, Dieterich M, Brandt T, Feil K (2016). "Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series". Cerebellum & Ataxias. 3: 8. doi:10.1186/s40673-016-0046-2. PMC 4828858. PMID 27073690.
Strupp M, Bayer O, Feil K, Straube A (February 2019). "Prophylactic treatment of migraine with and without aura with acetyl-DL-leucine: a case series". Journal of Neurology. 266 (2): 525–529. doi:10.1007/s00415-018-9155-6. PMID 30547273. S2CID 56148131.
Crawford, T O (2005). "Survival probability in ataxia telangiectasia". Archives of Disease in Childhood. 91 (7): 610–611. doi:10.1136/adc.2006.094268. ISSN 0003-9888. PMC 2082822. PMID 16790721.
Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M (January 2014). "Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial". Orphanet Journal of Rare Diseases. 9 (1): 5. doi:10.1186/1750-1172-9-5. PMC 3904207. PMID 24405665.
Yousefpour P, Chilkoti A (September 2014). "Co-opting biology to deliver drugs". Biotechnology and Bioengineering. 111 (9): 1699–716. doi:10.1002/bit.25307. PMC 4251460. PMID 24916780.

ncbi.nlm.nih.gov

Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT (November 1986). "The incidence and gene frequency of ataxia–telangiectasia in the United States". American Journal of Human Genetics. 39 (5): 573–83. PMC 1684065. PMID 3788973.
Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM (1998). "ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer". American Journal of Human Genetics. 62 (2): 334–345. doi:10.1086/301706. PMC 1376883. PMID 9463314.
Asadollahi R, Britschgi C, Joset P, Oneda B, Schindler D, Meier UR, Rauch A (August 2020). "Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)". Molecular Genetics & Genomic Medicine. 8 (10): e1409. doi:10.1002/mgg3.1409. PMC 7549565. PMID 32748564.
Lin DD, Barker PB, Lederman HM, Crawford TO (January 2014). "Cerebral abnormalities in adults with ataxia–telangiectasia". AJNR. American Journal of Neuroradiology. 35 (1): 119–23. doi:10.3174/ajnr.A3646. PMC 4106125. PMID 23886747.
Rothblum-Oviatt, Cynthia; Wright, Jennifer; Lefton-Greif, Maureen A.; McGrath-Morrow, Sharon A.; Crawford, Thomas O.; Lederman, Howard M. (2016-11-25). "Ataxia telangiectasia: a review". Orphanet Journal of Rare Diseases. 11 (1): 159. doi:10.1186/s13023-016-0543-7. ISSN 1750-1172. PMC 5123280. PMID 27884168.
Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor AM (August 2011). "Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours". British Journal of Cancer. 105 (4): 586–91. doi:10.1038/bjc.2011.266. PMC 3170966. PMID 21792198.
McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, Brody AS, Langston C, Fan LL, Lefton-Greif MA, Crawford TO, Troche M, Sandlund JT, Auwaerter PG, Easley B, Loughlin GM, Carroll JL, Lederman HM (September 2010). "Evaluation and management of pulmonary disease in ataxia–telangiectasia". Pediatric Pulmonology. 45 (9): 847–59. doi:10.1002/ppul.21277. PMC 4151879. PMID 20583220.
Derheimer FA, Kastan MB (September 2010). "Multiple roles of ATM in monitoring and maintaining DNA integrity". FEBS Letters. 584 (17): 3675–81. doi:10.1016/j.febslet.2010.05.031. PMC 2950315. PMID 20580718.
Dar I, Biton S, Shiloh Y, Barzilai A (July 2006). "Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons". The Journal of Neuroscience. 26 (29): 7767–74. doi:10.1523/JNEUROSCI.2055-06.2006. PMC 6674276. PMID 16855104.
Gorodetsky E, Calkins S, Ahn J, Brooks PJ (November 2007). "ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain". DNA Repair. 6 (11): 1698–707. doi:10.1016/j.dnarep.2007.06.011. PMC 2797317. PMID 17706468.
Valentin-Vega YA, Maclean KH, Tait-Mulder J, Milasta S, Steeves M, Dorsey FC, Cleveland JL, Green DR, Kastan MB (February 2012). "Mitochondrial dysfunction in ataxia–telangiectasia". Blood. 119 (6): 1490–500. doi:10.1182/blood-2011-08-373639. PMC 3286212. PMID 22144182.
Barchi M, Roig I, Di Giacomo M, de Rooij DG, Keeney S, Jasin M (May 2008). "ATM promotes the obligate XY crossover and both crossover control and chromosome axis integrity on autosomes". PLOS Genetics. 4 (5): e1000076. doi:10.1371/journal.pgen.1000076. PMC 2374915. PMID 18497861.
Lumsden JM, McCarty T, Petiniot LK, Shen R, Barlow C, Wynn TA, Morse HC, Gearhart PJ, Wynshaw-Boris A, Max EE, Hodes RJ (November 2004). "Immunoglobulin class switch recombination is impaired in Atm-deficient mice". The Journal of Experimental Medicine. 200 (9): 1111–21. doi:10.1084/jem.20041074. PMC 2211853. PMID 15504820.
Callén E, Jankovic M, Wong N, Zha S, Chen HT, Difilippantonio S, Di Virgilio M, Heidkamp G, Alt FW, Nussenzweig A, Nussenzweig M (May 2009). "Essential role for DNA-PKcs in DNA double-strand break repair and apoptosis in ATM-deficient lymphocytes". Molecular Cell. 34 (3): 285–97. doi:10.1016/j.molcel.2009.04.025. PMC 2709792. PMID 19450527.
Bredemeyer AL, Huang CY, Walker LM, Bassing CH, Sleckman BP (August 2008). "Aberrant V(D)J recombination in ataxia telangiectasia mutated-deficient lymphocytes is dependent on nonhomologous DNA end joining". Journal of Immunology. 181 (4): 2620–5. doi:10.4049/jimmunol.181.4.2620. PMC 3598579. PMID 18684952.
Bredemeyer AL, Helmink BA, Innes CL, Calderon B, McGinnis LM, Mahowald GK, Gapud EJ, Walker LM, Collins JB, Weaver BK, Mandik-Nayak L, Schreiber RD, Allen PM, May MJ, Paules RS, Bassing CH, Sleckman BP (December 2008). "DNA double-strand breaks activate a multi-functional genetic program in developing lymphocytes". Nature. 456 (7223): 819–23. Bibcode:2008Natur.456..819B. doi:10.1038/nature07392. PMC 2605662. PMID 18849970.
Lee Y, Chong MJ, McKinnon PJ (September 2001). "Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status". The Journal of Neuroscience. 21 (17): 6687–93. doi:10.1523/JNEUROSCI.21-17-06687.2001. PMC 6763074. PMID 11517258.
Sordet O, Redon CE, Guirouilh-Barbat J, Smith S, Solier S, Douarre C, Conti C, Nakamura AJ, Das BB, Nicolas E, Kohn KW, Bonner WM, Pommier Y (August 2009). "Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks". EMBO Reports. 10 (8): 887–93. doi:10.1038/embor.2009.97. PMC 2726680. PMID 19557000.
Das BB, Antony S, Gupta S, Dexheimer TS, Redon CE, Garfield S, Shiloh Y, Pommier Y (December 2009). "Optimal function of the DNA repair enzyme TDP1 requires its phosphorylation by ATM and/or DNA-PK". The EMBO Journal. 28 (23): 3667–80. doi:10.1038/emboj.2009.302. PMC 2790489. PMID 19851285.
Alexander A, Cai SL, Kim J, Nanez A, Sahin M, MacLean KH, Inoki K, Guan KL, Shen J, Person MD, Kusewitt D, Mills GB, Kastan MB, Walker CL (March 2010). "ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS". Proceedings of the National Academy of Sciences of the United States of America. 107 (9): 4153–8. Bibcode:2010PNAS..107.4153A. doi:10.1073/pnas.0913860107. PMC 2840158. PMID 20160076.
Cosentino C, Grieco D, Costanzo V (February 2011). "ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair". The EMBO Journal. 30 (3): 546–55. doi:10.1038/emboj.2010.330. PMC 3034007. PMID 21157431.
D'Souza AD, Parish IA, Krause DS, Kaech SM, Shadel GS (January 2013). "Reducing mitochondrial ROS improves disease-related pathology in a mouse model of ataxia–telangiectasia". Molecular Therapy. 21 (1): 42–8. doi:10.1038/mt.2012.203. PMC 3538311. PMID 23011031.
Sharma NK, Lebedeva M, Thomas T, Kovalenko OA, Stumpf JD, Shadel GS, Santos JH (January 2014). "Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia". DNA Repair. 13: 22–31. doi:10.1016/j.dnarep.2013.11.002. PMC 6211587. PMID 24342190.
Yang Y, Herrup K (March 2005). "Loss of neuronal cell cycle control in ataxia–telangiectasia: a unified disease mechanism". The Journal of Neuroscience. 25 (10): 2522–9. doi:10.1523/JNEUROSCI.4946-04.2005. PMC 6725172. PMID 15758161.
Li J, Han YR, Plummer MR, Herrup K (December 2009). "Cytoplasmic ATM in neurons modulates synaptic function". Current Biology. 19 (24): 2091–6. doi:10.1016/j.cub.2009.10.039. PMC 2805770. PMID 19962314.
Li J, Chen J, Ricupero CL, Hart RP, Schwartz MS, Kusnecov A, Herrup K (May 2012). "Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia". Nature Medicine. 18 (5): 783–90. doi:10.1038/nm.2709. PMC 3378917. PMID 22466704.
Herrup K (October 2013). "ATM and the epigenetics of the neuronal genome". Mechanisms of Ageing and Development. 134 (10): 434–9. doi:10.1016/j.mad.2013.05.005. PMC 3791148. PMID 23707635.
Li J, Hart RP, Mallimo EM, Swerdel MR, Kusnecov AW, Herrup K (December 2013). "EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia–telangiectasia". Nature Neuroscience. 16 (12): 1745–53. doi:10.1038/nn.3564. PMC 3965909. PMID 24162653.
Jiang D, Zhang Y, Hart RP, Chen J, Herrup K, Li J (December 2015). "Alteration in 5-hydroxymethylcytosine-mediated epigenetic regulation leads to Purkinje cell vulnerability in ATM deficiency". Brain. 138 (Pt 12): 3520–36. doi:10.1093/brain/awv284. PMC 4668921. PMID 26510954.
Wood LM, Sankar S, Reed RE, Haas AL, Liu LF, McKinnon P, Desai SD (January 2011). "A novel role for ATM in regulating proteasome-mediated protein degradation through suppression of the ISG15 conjugation pathway". PLOS ONE. 6 (1): e16422. Bibcode:2011PLoSO...616422W. doi:10.1371/journal.pone.0016422. PMC 3027683. PMID 21298066.
Taylor AM, Byrd PJ (October 2005). "Molecular pathology of ataxia telangiectasia". Journal of Clinical Pathology. 58 (10): 1009–15. doi:10.1136/jcp.2005.026062. PMC 1770730. PMID 16189143.
Lefton-Greif MA, Crawford TO, McGrath-Morrow S, Carson KA, Lederman HM (May 2011). "Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia". Orphanet Journal of Rare Diseases. 6: 23. doi:10.1186/1750-1172-6-23. PMC 3116459. PMID 21569628.
Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J, et al. (April 2014). "Consensus paper: management of degenerative cerebellar disorders". Cerebellum. 13 (2): 248–68. doi:10.1007/s12311-013-0531-6. PMC 4344126. PMID 24222635.
Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, et al. (October 2013). "Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series". Journal of Neurology. 260 (10): 2556–61. doi:10.1007/s00415-013-7016-x. PMC 3824630. PMID 23835634.
Schniepp R, Strupp M, Wuehr M, Jahn K, Dieterich M, Brandt T, Feil K (2016). "Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series". Cerebellum & Ataxias. 3: 8. doi:10.1186/s40673-016-0046-2. PMC 4828858. PMID 27073690.
Crawford, T O (2005). "Survival probability in ataxia telangiectasia". Archives of Disease in Childhood. 91 (7): 610–611. doi:10.1136/adc.2006.094268. ISSN 0003-9888. PMC 2082822. PMID 16790721.
Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M (January 2014). "Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial". Orphanet Journal of Rare Diseases. 9 (1): 5. doi:10.1186/1750-1172-9-5. PMC 3904207. PMID 24405665.
Yousefpour P, Chilkoti A (September 2014). "Co-opting biology to deliver drugs". Biotechnology and Bioengineering. 111 (9): 1699–716. doi:10.1002/bit.25307. PMC 4251460. PMID 24916780.

ghr.nlm.nih.gov

"Ataxia–telangiectasia". Genetics Home Reference. Retrieved 2018-03-29.

semanticscholar.org

api.semanticscholar.org

Cabana MD, Crawford TO, Winkelstein JA, Christensen JR, Lederman HM (July 1998). "Consequences of the delayed diagnosis of ataxia–telangiectasia". Pediatrics. 102 (1 Pt 1): 98–100. doi:10.1542/peds.102.1.98. PMID 9651420. S2CID 22538515.
Dörk T, Bendix-Waltes R, Wegner RD, Stumm M (2004). "Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations". American Journal of Medical Genetics. 126A (3): 272–277. doi:10.1002/ajmg.a.20601. PMID 15054841. S2CID 22090621.
Crawford TO, Mandir AS, Lefton-Greif MA, Goodman SN, Goodman BK, Sengul H, Lederman HM (April 2000). "Quantitative neurologic assessment of ataxia–telangiectasia". Neurology. 54 (7): 1505–9. doi:10.1212/wnl.54.7.1505. PMID 10751267. S2CID 24908122.
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N, et al. (Breast Cancer Susceptibility Collaboration, (UK)) (August 2006). "ATM mutations that cause ataxia–telangiectasia are breast cancer susceptibility alleles". Nature Genetics. 38 (8): 873–5. doi:10.1038/ng1837. PMID 16832357. S2CID 2909283.
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K (December 1988). "Localization of an ataxia–telangiectasia gene to chromosome 11q22-23". Nature. 336 (6199): 577–80. Bibcode:1988Natur.336..577G. doi:10.1038/336577a0. PMID 3200306. S2CID 4255660.
Guo Z, Kozlov S, Lavin MF, Person MD, Paull TT (October 2010). "ATM activation by oxidative stress". Science. 330 (6003): 517–21. Bibcode:2010Sci...330..517G. doi:10.1126/science.1192912. hdl:2152/9689. PMID 20966255. S2CID 206527888.
Bakkenist CJ, Kastan MB (January 2003). "DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation". Nature. 421 (6922): 499–506. Bibcode:2003Natur.421..499B. doi:10.1038/nature01368. PMID 12556884. S2CID 4403303.
Shiloh Y (March 2003). "ATM and related protein kinases: safeguarding genome integrity". Nature Reviews. Cancer. 3 (3): 155–68. doi:10.1038/nrc1011. PMID 12612651. S2CID 22770833.
Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley JN, Ried T, Tagle D, Wynshaw-Boris A (July 1996). "Atm-deficient mice: a paradigm of ataxia telangiectasia". Cell. 86 (1): 159–71. doi:10.1016/S0092-8674(00)80086-0. PMID 8689683. S2CID 11922073.
Plug AW, Peters AH, Xu Y, Keegan KS, Hoekstra MF, Baltimore D, de Boer P, Ashley T (December 1997). "ATM and RPA in meiotic chromosome synapsis and recombination". Nature Genetics. 17 (4): 457–61. doi:10.1038/ng1297-457. PMID 9398850. S2CID 193465.
Bredemeyer AL, Sharma GG, Huang CY, Helmink BA, Walker LM, Khor KC, Nuskey B, Sullivan KE, Pandita TK, Bassing CH, Sleckman BP (July 2006). "ATM stabilizes DNA double-strand-break complexes during V(D)J recombination". Nature. 442 (7101): 466–70. Bibcode:2006Natur.442..466B. doi:10.1038/nature04866. PMID 16799570. S2CID 4320129.
Callén E, Jankovic M, Difilippantonio S, Daniel JA, Chen HT, Celeste A, Pellegrini M, McBride K, Wangsa D, Bredemeyer AL, Sleckman BP, Ried T, Nussenzweig M, Nussenzweig A (July 2007). "ATM prevents the persistence and propagation of chromosome breaks in lymphocytes". Cell. 130 (1): 63–75. doi:10.1016/j.cell.2007.06.016. PMID 17599403. S2CID 17514413.
Inomata K, Aoto T, Binh NT, Okamoto N, Tanimura S, Wakayama T, Iseki S, Hara E, Masunaga T, Shimizu H, Nishimura EK (June 2009). "Genotoxic stress abrogates renewal of melanocyte stem cells by triggering their differentiation". Cell. 137 (6): 1088–99. doi:10.1016/j.cell.2009.03.037. hdl:2297/19337. PMID 19524511. S2CID 16630060.
Strupp M, Bayer O, Feil K, Straube A (February 2019). "Prophylactic treatment of migraine with and without aura with acetyl-DL-leucine: a case series". Journal of Neurology. 266 (2): 525–529. doi:10.1007/s00415-018-9155-6. PMID 30547273. S2CID 56148131.

web.archive.org

"IntraBio". Archived from the original on 2019-08-01. Retrieved 2019-08-01.
"IntraBio". Archived from the original on 2019-08-01. Retrieved 2019-08-01.

worldcat.org

Rothblum-Oviatt, Cynthia; Wright, Jennifer; Lefton-Greif, Maureen A.; McGrath-Morrow, Sharon A.; Crawford, Thomas O.; Lederman, Howard M. (2016-11-25). "Ataxia telangiectasia: a review". Orphanet Journal of Rare Diseases. 11 (1): 159. doi:10.1186/s13023-016-0543-7. ISSN 1750-1172. PMC 5123280. PMID 27884168.
Crawford, T O (2005). "Survival probability in ataxia telangiectasia". Archives of Disease in Childhood. 91 (7): 610–611. doi:10.1136/adc.2006.094268. ISSN 0003-9888. PMC 2082822. PMID 16790721.