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Items: 1 to 20 of 35


Recent advances in genetics of chorea.

Mencacci NE, Carecchio M.

Curr Opin Neurol. 2016 Aug;29(4):486-95. doi: 10.1097/WCO.0000000000000352.


A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.

Campbell A, Krupp B, Bushman J, Noble M, Pröschel C, Mayer-Pröschel M.

Hum Mol Genet. 2015 Nov 15;24(22):6331-49. doi: 10.1093/hmg/ddv342.


Requirement of the FATC domain of protein kinase Tel1 for localization to DNA ends and target protein recognition.

Ogi H, Goto GH, Ghosh A, Zencir S, Henry E, Sugimoto K.

Mol Biol Cell. 2015 Oct 1;26(19):3480-8. doi: 10.1091/mbc.E15-05-0259.


Evolutionary genomics of human intellectual disability.

Crespi B, Summers K, Dorus S.

Evol Appl. 2010 Jan;3(1):52-63. doi: 10.1111/j.1752-4571.2009.00098.x.


Single nucleotide polymorphism in ATM gene, cooking oil fumes and lung adenocarcinoma susceptibility in Chinese female non-smokers: a case-control study.

Shen L, Yin Z, Wu W, Ren Y, Li X, Zhou B.

PLoS One. 2014 May 12;9(5):e96911. doi: 10.1371/journal.pone.0096911.


Ataxia-telangiectasia with novel splicing mutations in the ATM gene.

Jeong H, Huh HJ, Youn J, Kim JS, Cho JW, Ki CS.

Ann Lab Med. 2014 Jan;34(1):80-4. doi: 10.3343/alm.2014.34.1.80. No abstract available.


Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

Davis MY, Keene CD, Swanson PD, Sheehy C, Bird TD.

J Neurol Sci. 2013 Dec 15;335(1-2):134-8. doi: 10.1016/j.jns.2013.09.014.


Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents.

Ludwig LB, Valiati VH, Palazzo RP, Jardim LB, da Rosa DP, Bona S, Rodrigues G, Marroni NP, Prá D, Maluf SW.

Biomed Res Int. 2013;2013:762048. doi: 10.1155/2013/762048.


ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration.

Carlessi L, Fusar Poli E, De Filippis L, Delia D.

DNA Repair (Amst). 2013 Aug;12(8):605-11. doi: 10.1016/j.dnarep.2013.04.013. Review.


Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.

Huh HJ, Cho KH, Lee JE, Kwon MJ, Ki CS, Lee PH.

Ann Lab Med. 2013 May;33(3):217-20. doi: 10.3343/alm.2013.33.3.217.


Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.

Ambrose M, Gatti RA.

Blood. 2013 May 16;121(20):4036-45. doi: 10.1182/blood-2012-09-456897. Review.


Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Cavalieri S, Pozzi E, Gatti RA, Brusco A.

Eur J Hum Genet. 2013 Jul;21(7):774-8. doi: 10.1038/ejhg.2012.266.


Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.

Menotta M, Biagiotti S, Bianchi M, Chessa L, Magnani M.

J Biol Chem. 2012 Nov 30;287(49):41352-63. doi: 10.1074/jbc.M112.344473.


Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1.

Balmus G, Zhu M, Mukherjee S, Lyndaker AM, Hume KR, Lee J, Riccio ML, Reeves AP, Sutter NB, Noden DM, Peters RM, Weiss RS.

Hum Mol Genet. 2012 Aug 1;21(15):3408-20. doi: 10.1093/hmg/dds173.


The ATM protein kinase and cellular redox signaling: beyond the DNA damage response.

Ditch S, Paull TT.

Trends Biochem Sci. 2012 Jan;37(1):15-22. doi: 10.1016/j.tibs.2011.10.002. Review.


All stressed out without ATM kinase.

Perry JJ, Tainer JA.

Sci Signal. 2011 Apr 5;4(167):pe18. doi: 10.1126/scisignal.2001961.


ATM activation in the presence of oxidative stress.

Guo Z, Deshpande R, Paull TT.

Cell Cycle. 2010 Dec 15;9(24):4805-11.


Past, present and future therapeutics for cerebellar ataxias.

Marmolino D, Manto M.

Curr Neuropharmacol. 2010 Mar;8(1):41-61. doi: 10.2174/157015910790909476.


Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report.

Folgori L, Scarselli A, Angelino G, Ferrari F, Antoccia A, Chessa L, Finocchi A.

Ital J Pediatr. 2010 Apr 11;36:29. doi: 10.1186/1824-7288-36-29.


Nonaminoglycoside compounds induce readthrough of nonsense mutations.

Du L, Damoiseaux R, Nahas S, Gao K, Hu H, Pollard JM, Goldstine J, Jung ME, Henning SM, Bertoni C, Gatti RA.

J Exp Med. 2009 Sep 28;206(10):2285-97. doi: 10.1084/jem.20081940.

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