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Items: 1 to 20 of 114

1.

Copper delivery to the CNS by CuATSM effectively treats motor neuron disease in SOD(G93A) mice co-expressing the Copper-Chaperone-for-SOD.

Williams JR, Trias E, Beilby PR, Lopez NI, Labut EM, Bradford CS, Roberts BR, McAllum EJ, Crouch PJ, Rhoads TW, Pereira C, Son M, Elliott JL, Franco MC, Estévez AG, Barbeito L, Beckman JS.

Neurobiol Dis. 2016 May;89:1-9. doi: 10.1016/j.nbd.2016.01.020. Epub 2016 Jan 27.

2.

Preexisting conditions in pediatric ALL patients: Spectrum, frequency and clinical impact.

Schütte P, Möricke A, Zimmermann M, Bleckmann K, Reismüller B, Attarbaschi A, Mann G, Bodmer N, Niggli F, Schrappe M, Stanulla M, Kratz CP.

Eur J Med Genet. 2016 Mar;59(3):143-51. doi: 10.1016/j.ejmg.2015.12.008. Epub 2015 Dec 28. Review.

PMID:
26732628
3.

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA.

Clin Genet. 2016 Aug;90(2):105-17. doi: 10.1111/cge.12710. Epub 2016 Jan 20. Review.

PMID:
26662178
4.

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.

Bhatt JM, Bush A, van Gerven M, Nissenkorn A, Renke M, Yarlett L, Taylor M, Tonia T, Warris A, Zielen S, Zinna S, Merkus PJ; European Respiratory Society.

Eur Respir Rev. 2015 Dec;24(138):565-81. doi: 10.1183/16000617.0066-2015. Review.

5.

ATM-Dependent Phosphorylation of All Three Members of the MRN Complex: From Sensor to Adaptor.

Lavin MF, Kozlov S, Gatei M, Kijas AW.

Biomolecules. 2015 Oct 23;5(4):2877-902. doi: 10.3390/biom5042877. Review.

6.

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment.

van Egmond ME, Elting JW, Kuiper A, Zutt R, Heineman KR, Brouwer OF, Sival DA, Willemsen MA, Tijssen MA, de Koning TJ.

Eur J Paediatr Neurol. 2015 Nov;19(6):726-9. doi: 10.1016/j.ejpn.2015.07.003. Epub 2015 Jul 21.

PMID:
26232052
7.

Ataxia-telangiectasia with female fertility.

Dawson AJ, Marles S, Tomiuk M, Riordan D, Gatti RA.

Am J Med Genet A. 2015 Aug;167A(8):1937-9. doi: 10.1002/ajmg.a.37084. Epub 2015 Apr 25. No abstract available.

PMID:
25914063
8.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Leuzzi V, Micheli R, D'Agnano D, Molinaro A, Venturi T, Plebani A, Soresina A, Marini M, Ferremi Leali P, Quinti I, Pietrogrande MC, Finocchi A, Fazzi E, Chessa L, Magnani M.

Neurol Neuroimmunol Neuroinflamm. 2015 Apr 9;2(3):e98. doi: 10.1212/NXI.0000000000000098. eCollection 2015 Jun.

9.

A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

Nakamura K, Fike F, Haghayegh S, Saunders-Pullman R, Dawson AJ, Dörk T, Gatti RA.

Mol Genet Genomic Med. 2014 Jul;2(4):332-40. doi: 10.1002/mgg3.72. Epub 2014 Mar 13.

10.

Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia.

Voss S, Pietzner J, Hoche F, Taylor AM, Last JI, Schubert R, Zielen S.

Growth Factors. 2014 Jun;32(3-4):123-9. doi: 10.3109/08977194.2014.939805.

PMID:
25060036
11.

Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients.

Sahama I, Sinclair K, Fiori S, Pannek K, Lavin M, Rose S.

Mov Disord. 2014 Sep;29(10):1289-98. doi: 10.1002/mds.25970. Epub 2014 Jul 17.

PMID:
25042086
12.

Radiological imaging in ataxia telangiectasia: a review.

Sahama I, Sinclair K, Pannek K, Lavin M, Rose S.

Cerebellum. 2014 Aug;13(4):521-30. doi: 10.1007/s12311-014-0557-4. Review.

PMID:
24683014
13.

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH.

Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19483-8. doi: 10.1073/pnas.1312088110. Epub 2013 Nov 11.

14.

Generating SM(a)RTer compounds for translation termination suppression in A-T and other genetic disorders.

Lavin MF.

Mol Ther. 2013 Sep;21(9):1650-2. doi: 10.1038/mt.2013.177. No abstract available.

15.

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP.

Neurology. 2013 Sep 24;81(13):1148-51. doi: 10.1212/WNL.0b013e3182a55fa2. Epub 2013 Aug 14.

16.

Cerebral abnormalities in adults with ataxia-telangiectasia.

Lin DD, Barker PB, Lederman HM, Crawford TO.

AJNR Am J Neuroradiol. 2014 Jan;35(1):119-23. doi: 10.3174/ajnr.A3646. Epub 2013 Jul 25.

17.

Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia.

Shaikh AG, Marti S, Tarnutzer AA, Palla A, Crawford TO, Zee DS, Straumann D.

J Neurol. 2013 Nov;260(11):2728-35. doi: 10.1007/s00415-013-7046-4. Epub 2013 Jul 25.

18.

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, Nahas S, Piao C, Hu H, Gatti RA.

Mol Ther. 2013 Sep;21(9):1653-60. doi: 10.1038/mt.2013.150. Epub 2013 Jun 18.

19.

Newborn screening for SCID identifies patients with ataxia telangiectasia.

Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, Sunderam U, Rana S, Srinivasan R, Brenner SE, Puck J.

J Clin Immunol. 2013 Apr;33(3):540-9. doi: 10.1007/s10875-012-9846-1. Epub 2012 Dec 20.

20.

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

Al-Maawali A, Blaser S, Yoon G.

J Child Neurol. 2012 Sep;27(9):1121-32. doi: 10.1177/0883073812448680. Epub 2012 Jul 4.

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