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Items: 18

1.

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.

Muntoni F, Desguerre I, Guglieri M, Osorio AN, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL, Mercuri E.

J Comp Eff Res. 2019 Oct;8(14):1187-1200. doi: 10.2217/cer-2019-0086. Epub 2019 Aug 15.

2.

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.

Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group.

Neurology. 2018 Sep 25;91(13):e1215-e1219. doi: 10.1212/WNL.0000000000006245. Epub 2018 Aug 22.

3.

Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial.

Shieh PB, Mcintosh J, Jin F, Souza M, Elfring G, Narayanan S, Trifillis P, Peltz SW, Mcdonald CM, Darras BT; THE ACT DMD STUDY GROUP.

Muscle Nerve. 2018 Nov;58(5):639-645. doi: 10.1002/mus.26191. Epub 2018 Sep 27.

4.

Discovery of Novel Small Molecule Inhibitors of VEGF Expression in Tumor Cells Using a Cell-Based High Throughput Screening Platform.

Cao L, Weetall M, Bombard J, Qi H, Arasu T, Lennox W, Hedrick J, Sheedy J, Risher N, Brooks PC, Trifillis P, Trotta C, Moon YC, Babiak J, Almstead NG, Colacino JM, Davis TW, Peltz SW.

PLoS One. 2016 Dec 16;11(12):e0168366. doi: 10.1371/journal.pone.0168366. eCollection 2016.

5.

Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.

Naryshkin NA, Weetall M, Dakka A, Narasimhan J, Zhao X, Feng Z, Ling KK, Karp GM, Qi H, Woll MG, Chen G, Zhang N, Gabbeta V, Vazirani P, Bhattacharyya A, Furia B, Risher N, Sheedy J, Kong R, Ma J, Turpoff A, Lee CS, Zhang X, Moon YC, Trifillis P, Welch EM, Colacino JM, Babiak J, Almstead NG, Peltz SW, Eng LA, Chen KS, Mull JL, Lynes MS, Rubin LL, Fontoura P, Santarelli L, Haehnke D, McCarthy KD, Schmucki R, Ebeling M, Sivaramakrishnan M, Ko CP, Paushkin SV, Ratni H, Gerlach I, Ghosh A, Metzger F.

Science. 2014 Aug 8;345(6197):688-93. doi: 10.1126/science.1250127.

6.

PTC124 targets genetic disorders caused by nonsense mutations.

Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, Conn MM, Khan A, Almstead NG, Hedrick J, Mollin A, Risher N, Weetall M, Yeh S, Branstrom AA, Colacino JM, Babiak J, Ju WD, Hirawat S, Northcutt VJ, Miller LL, Spatrick P, He F, Kawana M, Feng H, Jacobson A, Peltz SW, Sweeney HL.

Nature. 2007 May 3;447(7140):87-91. Epub 2007 Apr 22.

PMID:
17450125
7.
8.

Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay.

Bhattacharya A, Czaplinski K, Trifillis P, He F, Jacobson A, Peltz SW.

RNA. 2000 Sep;6(9):1226-35.

9.
10.

An mRNA stability complex functions with poly(A)-binding protein to stabilize mRNA in vitro.

Wang Z, Day N, Trifillis P, Kiledjian M.

Mol Cell Biol. 1999 Jul;19(7):4552-60.

11.

Purification and RNA binding properties of the polycytidylate-binding proteins alphaCP1 and alphaCP2.

Kiledjian M, Day N, Trifillis P.

Methods. 1999 Jan;17(1):84-91.

PMID:
10075886
12.

Different hematological phenotypes caused by the interaction of triplicated alpha-globin genes and heterozygous beta-thalassemia.

Camaschella C, Kattamis AC, Petroni D, Roetto A, Sivera P, Sbaiz L, Cohen A, Ohene-Frempong K, Trifillis P, Surrey S, Fortina P.

Am J Hematol. 1997 Jun;55(2):83-8.

13.

Expression studies of delta-globin gene alleles associated with reduced hemoglobin A2 levels in Greek Cypriots.

Trifillis P, Adachi K, Yamaguchi T, Schwartz E, Surrey S.

J Biol Chem. 1996 Oct 25;271(43):26931-8.

14.

Polymerization of three hemoglobin A2 variants containing Val6 and inhibition of hemoglobin S polymerization by hemoglobin A2.

Adachi K, Pang J, Reddy LR, Bradley LE, Chen Q, Trifillis P, Schwartz E, Surrey S.

J Biol Chem. 1996 Oct 4;271(40):24557-63.

15.

Analysis of delta-globin gene mutations in Greek cypriots.

Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S.

Blood. 1993 Sep 1;82(5):1647-51.

PMID:
8364213
18.

Analysis of 5' flanking regions of the gamma globin genes from major African haplotype backgrounds associated with sickle cell disease.

Month SR, Wood RW, Trifillis PT, Orchowski PJ, Sharon B, Ballas SK, Surrey S, Schwartz E.

J Clin Invest. 1990 Feb;85(2):364-70.

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