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Items: 1 to 20 of 37

1.

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study.

Saunders-Pullman R, Stanley K, Brüggemann N, Raymond D, San Luciano M, Wang C, Klein C, Lubarr N, Ozelius L, Bressman SB, Hagenah J.

Parkinsonism Relat Disord. 2010 Jul;16(6):420-2. doi: 10.1016/j.parkreldis.2010.03.003. Epub 2010 Apr 22. No abstract available.

2.

Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.

Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, Schubert R, Zielen S.

Cerebellum. 2010 Jun;9(2):190-7. doi: 10.1007/s12311-009-0138-0.

PMID:
19898915
3.

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G.

Am J Hum Genet. 2009 Oct;85(4):427-46. doi: 10.1016/j.ajhg.2009.08.018. Epub 2009 Sep 24.

4.

Spiral analysis in Niemann-Pick disease type C.

Hsu AW, Piboolnurak PA, Floyd AG, Yu QP, Wraith JE, Patterson MC, Pullman SL.

Mov Disord. 2009 Oct 15;24(13):1984-90. doi: 10.1002/mds.22744.

PMID:
19672994
5.

Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.

Yanofsky RA, Seshia SS, Dawson AJ, Stobart K, Greenberg CR, Booth FA, Prasad C, Del Bigio MR, Wrogemann JJ, Fike F, Gatti RA.

Can J Neurol Sci. 2009 Jul;36(4):462-7.

PMID:
19650357
6.

Ataxia-telangiectasia: without ataxia or telangiectasia?

Saunders-Pullman RJ, Gatti R.

Neurology. 2009 Aug 11;73(6):414-5. doi: 10.1212/WNL.0b013e3181b39140. Epub 2009 Jul 15. No abstract available.

PMID:
19605768
7.

Clinical spectrum of ataxia-telangiectasia in adulthood.

Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, Brunt ER, van Rijn MA, Majoor Krakauer D, Oldenburg RA, Broeks A, Last JI, van't Veer LJ, Tijssen MA, Dubois AM, Kremer HP, Weemaes CM, Taylor AM, van Deuren M.

Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17.

PMID:
19535770
8.

Hyperechogenicity of the substantia nigra in healthy controls is related to MRI changes and to neuronal loss as determined by F-Dopa PET.

Behnke S, Schroeder U, Dillmann U, Buchholz HG, Schreckenberger M, Fuss G, Reith W, Berg D, Krick CM.

Neuroimage. 2009 Oct 1;47(4):1237-43. doi: 10.1016/j.neuroimage.2009.05.072. Epub 2009 Jun 1.

PMID:
19497378
9.

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R.

Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09)70081-X. Epub 2009 Apr 1.

10.

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ.

Nat Genet. 2009 Mar;41(3):286-8. doi: 10.1038/ng.304. Epub 2009 Feb 1.

PMID:
19182804
11.

Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.

Carrillo F, Schneider SA, Taylor AM, Srinivasan V, Kapoor R, Bhatia KP.

Cerebellum. 2009 Mar;8(1):22-7. doi: 10.1007/s12311-008-0055-7.

PMID:
18846412
12.

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Mitui M, Nahas SA, Du LT, Yang Z, Lai CH, Nakamura K, Arroyo S, Scott S, Purayidom A, Concannon P, Lavin M, Gatti RA.

Hum Mutat. 2009 Jan;30(1):12-21. doi: 10.1002/humu.20805.

13.

Validity of spiral analysis in early Parkinson's disease.

Saunders-Pullman R, Derby C, Stanley K, Floyd A, Bressman S, Lipton RB, Deligtisch A, Severt L, Yu Q, Kurtis M, Pullman SL.

Mov Disord. 2008 Mar 15;23(4):531-7.

PMID:
18074362
14.

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.

Saunders-Pullman R, Raymond D, Senthil G, Kramer P, Ohmann E, Deligtisch A, Shanker V, Greene P, Tabamo R, Huang N, Tagliati M, Kavanagh P, Soto-Valencia J, Aguiar Pde C, Risch N, Ozelius L, Bressman S.

Am J Med Genet A. 2007 Sep 15;143A(18):2098-105.

PMID:
17702011
15.

Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.

Alterman N, Fattal-Valevski A, Moyal L, Crawford TO, Lederman HM, Ziv Y, Shiloh Y.

Am J Med Genet A. 2007 Aug 15;143A(16):1827-34.

PMID:
17632790
16.

Ataxias.

Perlman SL.

Clin Geriatr Med. 2006 Nov;22(4):859-77, vii. Review.

PMID:
17000340
17.

Molecular pathology of ataxia telangiectasia.

Taylor AM, Byrd PJ.

J Clin Pathol. 2005 Oct;58(10):1009-15. Review.

18.

Ataxia-telangiectasia, an evolving phenotype.

Chun HH, Gatti RA.

DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1187-96. Review.

PMID:
15279807
19.

Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.

Dörk T, Bendix-Waltes R, Wegner RD, Stumm M.

Am J Med Genet A. 2004 Apr 30;126A(3):272-7.

PMID:
15054841
20.

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.

Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA.

Mol Genet Metab. 2003 Dec;80(4):437-43.

PMID:
14654357
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