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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.

Barp A, Bello L, Politano L, Melacini P, Calore C, Polo A, Vianello S, Sorarù G, Semplicini C, Pantic B, Taglia A, Picillo E, Magri F, Gorni K, Messina S, Vita GL, Vita G, Comi GP, Ermani M, Calvo V, Angelini C, Hoffman EP, Pegoraro E.

PLoS One. 2015 Oct 29;10(10):e0141240. doi: 10.1371/journal.pone.0141240. eCollection 2015.


Obesity-Related Genetic Variants and their Associations with Physical Activity.

Lee H, Ash GI, Angelopoulos TJ, Gordon PM, Moyna NM, Visich PS, Zoeller RF, Gordish-Dressman H, Deshpande V, Chen MH, Thompson PD, Hoffman EP, Devaney JM, Pescatello LS.

Sports Med Open. 2015;1(1):34. Epub 2015 Oct 15.


TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy.

Fiorillo AA, Heier CR, Novak JS, Tully CB, Brown KJ, Uaesoontrachoon K, Vila MC, Ngheim PP, Bello L, Kornegay JN, Angelini C, Partridge TA, Nagaraju K, Hoffman EP.

Cell Rep. 2015 Sep 8;12(10):1678-90. doi: 10.1016/j.celrep.2015.07.066. Epub 2015 Aug 28.


Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study.

Bello L, Gordish-Dressman H, Morgenroth LP, Henricson EK, Duong T, Hoffman EP, Cnaan A, McDonald CM; CINRG Investigators.

Neurology. 2015 Sep 22;85(12):1048-55. doi: 10.1212/WNL.0000000000001950. Epub 2015 Aug 26.


Upregulated IL-1β in dysferlin-deficient muscle attenuates regeneration by blunting the response to pro-inflammatory macrophages.

Cohen TV, Many GM, Fleming BD, Gnocchi VF, Ghimbovschi S, Mosser DM, Hoffman EP, Partridge TA.

Skelet Muscle. 2015 Aug 7;5:24. doi: 10.1186/s13395-015-0048-4. eCollection 2015.


Immune-mediated pathology in Duchenne muscular dystrophy.

Rosenberg AS, Puig M, Nagaraju K, Hoffman EP, Villalta SA, Rao VA, Wakefield LM, Woodcock J.

Sci Transl Med. 2015 Aug 5;7(299):299rv4. doi: 10.1126/scitranslmed.aaa7322. Review.


Lysosomal Acid Lipase Deficiency.

Hoffman EP, Barr ML, Giovanni MA, Murray MF.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2015 Jul 30.


The use of urinary and kidney SILAM proteomics to monitor kidney response to high dose morpholino oligonucleotides in the mdx mouse.

Zhang A, Uaesoontrachoon K, Shaughnessy C, Das JR, Rayavarapu S, Brown KJ, Ray PE, Nagaraju K, van den Anker JN, Hoffman EP, Hathout Y.

Toxicol Rep. 2015;2:838-849.


The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.

Deschamps CL, Connors KE, Klein MS, Johnsen VL, Shearer J, Vogel HJ, Devaney JM, Gordish-Dressman H, Many GM, Barfield W, Hoffman EP, Kraus WE, Hittel DS.

PLoS One. 2015 Jun 24;10(6):e0130644. doi: 10.1371/journal.pone.0130644. eCollection 2015.


Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy.

Hathout Y, Brody E, Clemens PR, Cripe L, DeLisle RK, Furlong P, Gordish-Dressman H, Hache L, Henricson E, Hoffman EP, Kobayashi YM, Lorts A, Mah JK, McDonald C, Mehler B, Nelson S, Nikrad M, Singer B, Steele F, Sterling D, Sweeney HL, Williams S, Gold L.

Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):7153-8. doi: 10.1073/pnas.1507719112. Epub 2015 May 26.


Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.

McNally EM, Kaltman JR, Benson DW, Canter CE, Cripe LH, Duan D, Finder JD, Groh WJ, Hoffman EP, Judge DP, Kertesz N, Kinnett K, Kirsch R, Metzger JM, Pearson GD, Rafael-Fortney JA, Raman SV, Spurney CF, Targum SL, Wagner KR, Markham LW; Working Group of the National Heart, Lung, and Blood Institute; Parent Project Muscular Dystrophy.

Circulation. 2015 May 5;131(18):1590-8. doi: 10.1161/CIRCULATIONAHA.114.015151. No abstract available. Erratum in: Circulation. 2015 Jun 23;131(25):e539. Groh, William J [added].


Transcriptional profiling and biological pathway analysis of human equivalence PCB exposure in vitro: indicator of disease and disorder development in humans.

Ghosh S, Mitra PS, Loffredo CA, Trnovec T, Murinova L, Sovcikova E, Ghimbovschi S, Zang S, Hoffman EP, Dutta SK.

Environ Res. 2015 Apr;138:202-16. doi: 10.1016/j.envres.2014.12.031. Epub 2015 Feb 27.


An analysis of DNA methylation in human adipose tissue reveals differential modification of obesity genes before and after gastric bypass and weight loss.

Benton MC, Johnstone A, Eccles D, Harmon B, Hayes MT, Lea RA, Griffiths L, Hoffman EP, Stubbs RS, Macartney-Coxson D.

Genome Biol. 2015 Jan 22;16:8. doi: 10.1186/s13059-014-0569-x.


Examination of Lifestyle Behaviors and Cardiometabolic Risk Factors in University Students Enrolled in Kinesiology Degree Programs.

Many GM, Lutsch A, Connors K, Shearer J, Brown HC, Ash G, Pescatello LS, Gordish-Dressman H, Barfield W, Dubis G, Houmard JA, Hoffman EP, Hittel DS.

J Strength Cond Res. 2015 Feb 3. [Epub ahead of print]


Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Bello L, Kesari A, Gordish-Dressman H, Cnaan A, Morgenroth LP, Punetha J, Duong T, Henricson EK, Pegoraro E, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group Investigators.

Ann Neurol. 2015 Apr;77(4):684-96. doi: 10.1002/ana.24370. Epub 2015 Mar 13.


Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin.

Sheu J, Divito SJ, Hoffman EP, Frank NY, Merola JF.

Br J Dermatol. 2015 Aug;173(2):568-70. doi: 10.1111/bjd.13649. Epub 2015 Jun 6. No abstract available.


Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Punetha J, Monges S, Franchi ME, Hoffman EP, Cirak S, Tesi-Rocha C.

Pediatr Neurol. 2015 Feb;52(2):239-44. doi: 10.1016/j.pediatrneurol.2014.09.003. Epub 2014 Oct 5.


VBP15, a novel anti-inflammatory, is effective at reducing the severity of murine experimental autoimmune encephalomyelitis.

Dillingham BC, Knoblach SM, Many GM, Harmon BT, Mullen AM, Heier CR, Bello L, McCall JM, Hoffman EP, Connor EM, Nagaraju K, Reeves EK, Damsker JM.

Cell Mol Neurobiol. 2015 Apr;35(3):377-87. doi: 10.1007/s10571-014-0133-y. Epub 2014 Nov 13.


Non-invasive MRI and spectroscopy of mdx mice reveal temporal changes in dystrophic muscle imaging and in energy deficits.

Heier CR, Guerron AD, Korotcov A, Lin S, Gordish-Dressman H, Fricke S, Sze RW, Hoffman EP, Wang P, Nagaraju K.

PLoS One. 2014 Nov 12;9(11):e112477. doi: 10.1371/journal.pone.0112477. eCollection 2014.


Global gene expression profiling in R155H knock-in murine model of VCP disease.

Nalbandian A, Ghimbovschi S, Wang Z, Knoblach S, Llewellyn KJ, Vesa J, Hoffman EP, Kimonis VE.

Clin Transl Sci. 2015 Feb;8(1):8-16. doi: 10.1111/cts.12241. Epub 2014 Nov 12.

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