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Laminopathies disrupt epigenomic developmental programs and cell fate.

Perovanovic J, Dell'Orso S, Gnochi VF, Jaiswal JK, Sartorelli V, Vigouroux C, Mamchaoui K, Mouly V, Bonne G, Hoffman EP.

Sci Transl Med. 2016 Apr 20;8(335):335ra58. doi: 10.1126/scitranslmed.aad4991.


Metataxonomic and Metagenomic Approaches vs. Culture-Based Techniques for Clinical Pathology.

Hilton SK, Castro-Nallar E, Pérez-Losada M, Toma I, McCaffrey TA, Hoffman EP, Siegel MO, Simon GL, Johnson WE, Crandall KA.

Front Microbiol. 2016 Apr 7;7:484. doi: 10.3389/fmicb.2016.00484. eCollection 2016.


Discovery of Metabolic Biomarkers for Duchenne Muscular Dystrophy within a Natural History Study.

Boca SM, Nishida M, Harris M, Rao S, Cheema AK, Gill K, Seol H, Morgenroth LP, Henricson E, McDonald C, Mah JK, Clemens PR, Hoffman EP, Hathout Y, Madhavan S.

PLoS One. 2016 Apr 15;11(4):e0153461. doi: 10.1371/journal.pone.0153461. eCollection 2016.


Clinical utility of serum biomarkers in Duchenne muscular dystrophy.

Hathout Y, Seol H, Han MH, Zhang A, Brown KJ, Hoffman EP.

Clin Proteomics. 2016 Apr 5;13:9. doi: 10.1186/s12014-016-9109-x. eCollection 2016. Review.


Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.

Punetha J, Mansoor S, Bertorini TE, Kesari A, Brown KJ, Hoffman EP.

Eur J Hum Genet. 2016 Mar 9. doi: 10.1038/ejhg.2016.22. [Epub ahead of print]


Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

Willkomm L, Heredia R, Hoffmann K, Wang H, Voit T, Hoffman EP, Cirak S.

J Hum Genet. 2016 Feb 18. doi: 10.1038/jhg.2016.6. [Epub ahead of print]


Glucocorticoid Receptor (NR3C1) Variants Associate with the Muscle Strength and Size Response to Resistance Training.

Ash GI, Kostek MA, Lee H, Angelopoulos TJ, Clarkson PM, Gordon PM, Moyna NM, Visich PS, Zoeller RF, Price TB, Devaney JM, Gordish-Dressman H, Thompson PD, Hoffman EP, Pescatello LS.

PLoS One. 2016 Jan 28;11(1):e0148112. doi: 10.1371/journal.pone.0148112. eCollection 2016.


Mathematical modelling of transcriptional heterogeneity identifies novel markers and subpopulations in complex tissues.

Wang N, Hoffman EP, Chen L, Chen L, Zhang Z, Liu C, Yu G, Herrington DM, Clarke R, Wang Y.

Sci Rep. 2016 Jan 7;6:18909. doi: 10.1038/srep18909.


Elusive sources of variability of dystrophin rescue by exon skipping.

Vila MC, Klimek MB, Novak JS, Rayavarapu S, Uaesoontrachoon K, Boehler JF, Fiorillo AA, Hogarth MW, Zhang A, Shaughnessy C, Gordish-Dressman H, Burki U, Straub V, Lu QL, Partridge TA, Brown KJ, Hathout Y, van den Anker J, Hoffman EP, Nagaraju K.

Skelet Muscle. 2015 Dec 1;5:44. doi: 10.1186/s13395-015-0070-6. eCollection 2015.


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; 1993-2016.
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].

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