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Items: 1 to 50 of 517

1.

Developmental Pharmacodynamics and Modeling in Pediatric Drug Development.

Conklin LS, Hoffman EP, van den Anker J.

J Clin Pharmacol. 2019 Sep;59 Suppl 1:S87-S94. doi: 10.1002/jcph.1482.

PMID:
31502687
2.

Absolute Quantification of Dystrophin Protein in Human Muscle Biopsies using Parallel Reaction Monitoring (PRM).

Canessa EH, Goswami MV, Alayi TD, Hoffman EP, Hathout Y.

J Mass Spectrom. 2019 Sep 9. doi: 10.1002/jms.4437. [Epub ahead of print]

PMID:
31502334
3.

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.

Hoffman EP, Schwartz BD, Mengle-Gaw LJ, Smith EC, Castro D, Mah JK, McDonald CM, Kuntz NL, Finkel RS, Guglieri M, Bushby K, Tulinius M, Nevo Y, Ryan MM, Webster R, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Siener C, Jaros M, Shale P, McCall JM, Nagaraju K, van den Anker J, Conklin LS, Cnaan A, Gordish-Dressman H, Damsker JM, Clemens PR; and the Cooperative International Neuromuscular Research Group.

Neurology. 2019 Aug 26. pii: 10.1212/WNL.0000000000008168. doi: 10.1212/WNL.0000000000008168. [Epub ahead of print]

PMID:
31451516
4.

Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy.

Hathout Y, Liang C, Ogundele M, Xu G, Tawalbeh SM, Dang UJ, Hoffman EP, Gordish-Dressman H, Conklin LS, van den Anker JN, Clemens PR, Mah JK, Henricson E, McDonald C.

Sci Rep. 2019 Aug 21;9(1):12167. doi: 10.1038/s41598-019-48548-9.

5.

Orthogonal analysis of dystrophin protein and mRNA as a surrogate outcome for drug development.

Uaesoontrachoon K, Srinivassane S, Warford J, Mekhssian K, Montpetit H, Beauvois R, Keyhani A, Hathout Y, Yamashita T, Satou Y, Osaki H, Praest M, Moraca M, Malbasic M, Ross W, MacKinnon A, Rowsell J, Mullen A, Matyas M, Mummidivarpu S, Nagaraju K, Hoffman EP.

Biomark Med. 2019 Aug 5. doi: 10.2217/bmm-2019-0242. [Epub ahead of print]

6.

Pharmacotherapy of Duchenne Muscular Dystrophy.

Hoffman EP.

Handb Exp Pharmacol. 2019 Aug 3. doi: 10.1007/164_2019_256. [Epub ahead of print]

PMID:
31375923
7.

Discovery of potential urine-accessible metabolite biomarkers associated with muscle disease and corticosteroid response in the mdx mouse model for Duchenne.

Thangarajh M, Zhang A, Gill K, Ressom HW, Li Z, Varghese RS, Hoffman EP, Nagaraju K, Hathout Y, Boca SM.

PLoS One. 2019 Jul 16;14(7):e0219507. doi: 10.1371/journal.pone.0219507. eCollection 2019.

8.

Morpholino-induced exon skipping stimulates cell-mediated and humoral responses to dystrophin in mdx mice.

Vila MC, Novak JS, Benny Klimek M, Li N, Morales M, Fritz AG, Edwards K, Boehler JF, Hogarth MW, Kinder TB, Zhang A, Mazala D, Fiorillo AA, Douglas B, Chen YW, van den Anker J, Lu QL, Hathout Y, Hoffman EP, Partridge TA, Nagaraju K.

J Pathol. 2019 Jul;248(3):339-351. doi: 10.1002/path.5263. Epub 2019 Apr 16.

PMID:
30883742
9.

Asymmetric independence modeling identifies novel gene-environment interactions.

Yu G, Miller DJ, Wu CT, Hoffman EP, Liu C, Herrington DM, Wang Y.

Sci Rep. 2019 Feb 21;9(1):2455. doi: 10.1038/s41598-019-38983-z.

10.

Vamorolone targets dual nuclear receptors to treat inflammation and dystrophic cardiomyopathy.

Heier CR, Yu Q, Fiorillo AA, Tully CB, Tucker A, Mazala DA, Uaesoontrachoon K, Srinivassane S, Damsker JM, Hoffman EP, Nagaraju K, Spurney CF.

Life Sci Alliance. 2019 Feb 11;2(1). pii: e201800186. doi: 10.26508/lsa.201800186. Print 2019 Feb.

11.

Population Pharmacokinetics of Vamorolone (VBP15) in Healthy Men and Boys With Duchenne Muscular Dystrophy.

Mavroudis PD, van den Anker J, Conklin LS, Damsker JM, Hoffman EP, Nagaraju K, Clemens PR, Jusko WJ.

J Clin Pharmacol. 2019 Jul;59(7):979-988. doi: 10.1002/jcph.1388. Epub 2019 Feb 11.

PMID:
30742306
12.

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.

Aartsma-Rus A, Morgan J, Lonkar P, Neubert H, Owens J, Binks M, Montolio M, Phadke R, Datson N, Van Deutekom J, Morris GE, Rao VA, Hoffman EP, Muntoni F, Arechavala-Gomeza V; workshop participants.

J Neuromuscul Dis. 2019;6(1):147-159. doi: 10.3233/JND-180357.

13.

Neurodevelopmental Needs in Young Boys with Duchenne Muscular Dystrophy (DMD): Observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS).

Thangarajh M, Spurney CF, Gordish-Dressman H, Clemens PR, Hoffman EP, McDonald CM, Henricson EK, Investigators C.

PLoS Curr. 2018 Oct 17;10. pii: ecurrents.md.4cdeb6970e54034db2bc3dfa54b4d987. doi: 10.1371/currents.md.4cdeb6970e54034db2bc3dfa54b4d987.

14.

Serum biomarkers of glucocorticoid response and safety in anti-neutrophil cytoplasmic antibody-associated vasculitis and juvenile dermatomyositis.

Conklin LS, Merkel PA, Pachman LM, Parikh H, Tawalbeh S, Damsker JM, Cuthbertson DD, Morgan GA, Monach PA, Hathout Y, Nagaraju K, van den Anker J, McAlear CA, Hoffman EP.

Steroids. 2018 Dec;140:159-166. doi: 10.1016/j.steroids.2018.10.008. Epub 2018 Oct 21.

15.

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug.

Conklin LS, Damsker JM, Hoffman EP, Jusko WJ, Mavroudis PD, Schwartz BD, Mengle-Gaw LJ, Smith EC, Mah JK, Guglieri M, Nevo Y, Kuntz N, McDonald CM, Tulinius M, Ryan MM, Webster R, Castro D, Finkel RS, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, McCall JM, Hathout Y, Nagaraju K, van den Anker J, Ward LM, Ahmet A, Cornish MR, Clemens PR.

Pharmacol Res. 2018 Oct;136:140-150. doi: 10.1016/j.phrs.2018.09.007. Epub 2018 Sep 13.

16.

Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit.

Sreetama SC, Chandra G, Van der Meulen JH, Ahmad MM, Suzuki P, Bhuvanendran S, Nagaraju K, Hoffman EP, Jaiswal JK.

Mol Ther. 2018 Sep 5;26(9):2231-2242. doi: 10.1016/j.ymthe.2018.07.021. Epub 2018 Aug 27.

17.

Genetic Variation in Acid Ceramidase Predicts Non-completion of an Exercise Intervention.

Lewis LS, Huffman KM, Smith IJ, Donahue MP, Slentz CA, Houmard JA, Hubal MJ, Hoffman EP, Hauser ER, Siegler IC, Kraus WE.

Front Physiol. 2018 Jun 29;9:781. doi: 10.3389/fphys.2018.00781. eCollection 2018.

18.

Muscle miRNAome shows suppression of chronic inflammatory miRNAs with both prednisone and vamorolone.

Fiorillo AA, Tully CB, Damsker JM, Nagaraju K, Hoffman EP, Heier CR.

Physiol Genomics. 2018 Sep 1;50(9):735-745. doi: 10.1152/physiolgenomics.00134.2017. Epub 2018 Jun 8.

19.

Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes.

Perovanovic J, Hoffman EP.

Physiol Genomics. 2018 Sep 1;50(9):694-704. doi: 10.1152/physiolgenomics.00128.2017. Epub 2018 May 11. Review.

20.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

21.

Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle.

Novak JS, Hogarth MW, Boehler JF, Nearing M, Vila MC, Heredia R, Fiorillo AA, Zhang A, Hathout Y, Hoffman EP, Jaiswal JK, Nagaraju K, Cirak S, Partridge TA.

Nat Commun. 2018 Mar 23;9(1):1256. doi: 10.1038/s41467-018-03709-8.

22.

Phase 1 trial of vamorolone, a first-in-class steroid, shows improvements in side effects via biomarkers bridged to clinical outcomes.

Hoffman EP, Riddle V, Siegler MA, Dickerson D, Backonja M, Kramer WG, Nagaraju K, Gordish-Dressman H, Damsker JM, McCall JM.

Steroids. 2018 Jun;134:43-52. doi: 10.1016/j.steroids.2018.02.010. Epub 2018 Mar 8.

23.

Author Correction: Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle.

Novak JS, Hogarth MW, Boehler JF, Nearing M, Vila MC, Heredia R, Fiorillo AA, Zhang A, Hathout Y, Hoffman EP, Jaiswal JK, Nagaraju K, Cirak S, Partridge TA.

Nat Commun. 2018 Jan 15;9(1):208. doi: 10.1038/s41467-017-02206-8.

24.

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study.

McDonald CM, Henricson EK, Abresch RT, Duong T, Joyce NC, Hu F, Clemens PR, Hoffman EP, Cnaan A, Gordish-Dressman H; CINRG Investigators.

Lancet. 2018 Feb 3;391(10119):451-461. doi: 10.1016/S0140-6736(17)32160-8. Epub 2017 Nov 22.

PMID:
29174484
25.

PCB exposure and potential future cancer incidence in Slovak children: an assessment from molecular finger printing by Ingenuity Pathway Analysis (IPA®) derived from experimental and epidemiological investigations.

Ghosh S, Loffredo CA, Mitra PS, Trnovec T, Palkovicova Murinova L, Sovcikova E, Hoffman EP, Makambi KH, Dutta SK.

Environ Sci Pollut Res Int. 2018 Jun;25(17):16493-16507. doi: 10.1007/s11356-017-0149-1. Epub 2017 Nov 15.

26.

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Zillikens MC, Demissie S, Hsu YH, Yerges-Armstrong LM, Chou WC, Stolk L, Livshits G, Broer L, Johnson T, Koller DL, Kutalik Z, Luan J, Malkin I, Ried JS, Smith AV, Thorleifsson G, Vandenput L, Hua Zhao J, Zhang W, Aghdassi A, Åkesson K, Amin N, Baier LJ, Barroso I, Bennett DA, Bertram L, Biffar R, Bochud M, Boehnke M, Borecki IB, Buchman AS, Byberg L, Campbell H, Campos Obanda N, Cauley JA, Cawthon PM, Cederberg H, Chen Z, Cho NH, Jin Choi H, Claussnitzer M, Collins F, Cummings SR, De Jager PL, Demuth I, Dhonukshe-Rutten RAM, Diatchenko L, Eiriksdottir G, Enneman AW, Erdos M, Eriksson JG, Eriksson J, Estrada K, Evans DS, Feitosa MF, Fu M, Garcia M, Gieger C, Girke T, Glazer NL, Grallert H, Grewal J, Han BG, Hanson RL, Hayward C, Hofman A, Hoffman EP, Homuth G, Hsueh WC, Hubal MJ, Hubbard A, Huffman KM, Husted LB, Illig T, Ingelsson E, Ittermann T, Jansson JO, Jordan JM, Jula A, Karlsson M, Khaw KT, Kilpeläinen TO, Klopp N, Kloth JSL, Koistinen HA, Kraus WE, Kritchevsky S, Kuulasmaa T, Kuusisto J, Laakso M, Lahti J, Lang T, Langdahl BL, Launer LJ, Lee JY, Lerch MM, Lewis JR, Lind L, Lindgren C, Liu Y, Liu T, Liu Y, Ljunggren Ö, Lorentzon M, Luben RN, Maixner W, McGuigan FE, Medina-Gomez C, Meitinger T, Melhus H, Mellström D, Melov S, Michaëlsson K, Mitchell BD, Morris AP, Mosekilde L, Newman A, Nielson CM, O'Connell JR, Oostra BA, Orwoll ES, Palotie A, Parker SCJ, Peacock M, Perola M, Peters A, Polasek O, Prince RL, Räikkönen K, Ralston SH, Ripatti S, Robbins JA, Rotter JI, Rudan I, Salomaa V, Satterfield S, Schadt EE, Schipf S, Scott L, Sehmi J, Shen J, Soo Shin C, Sigurdsson G, Smith S, Soranzo N, Stančáková A, Steinhagen-Thiessen E, Streeten EA, Styrkarsdottir U, Swart KMA, Tan ST, Tarnopolsky MA, Thompson P, Thomson CA, Thorsteinsdottir U, Tikkanen E, Tranah GJ, Tuomilehto J, van Schoor NM, Verma A, Vollenweider P, Völzke H, Wactawski-Wende J, Walker M, Weedon MN, Welch R, Wichmann HE, Widen E, Williams FMK, Wilson JF, Wright NC, Xie W, Yu L, Zhou Y, Chambers JC, Döring A, van Duijn CM, Econs MJ, Gudnason V, Kooner JS, Psaty BM, Spector TD, Stefansson K, Rivadeneira F, Uitterlinden AG, Wareham NJ, Ossowski V, Waterworth D, Loos RJF, Karasik D, Harris TB, Ohlsson C, Kiel DP.

Nat Commun. 2017 Nov 7;8(1):1414. doi: 10.1038/s41467-017-01008-2.

27.

Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle.

Novak JS, Hogarth MW, Boehler JF, Nearing M, Vila MC, Heredia R, Fiorillo AA, Zhang A, Hathout Y, Hoffman EP, Jaiswal JK, Nagaraju K, Cirak S, Partridge TA.

Nat Commun. 2017 Oct 16;8(1):941. doi: 10.1038/s41467-017-00924-7. Erratum in: Nat Commun. 2018 Jan 15;9(1):208. Nat Commun. 2018 Mar 23;9(1):1256.

28.

Expression of macrophage genes within skeletal muscle correlates inversely with adiposity and insulin resistance in humans.

Liu D, Morales FE, IglayReger HB, Treutelaar MK, Rothberg AE, Hubal MJ, Nadler EP, Robidoux J, Barakat H, Horowitz JF, Hoffman EP, Burant CF, Gordon PM.

Appl Physiol Nutr Metab. 2018 Feb;43(2):187-193. doi: 10.1139/apnm-2017-0228. Epub 2017 Oct 16.

29.

Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.

Nghiem PP, Kornegay JN, Uaesoontrachoon K, Bello L, Yin Y, Kesari A, Mittal P, Schatzberg SJ, Many GM, Lee NH, Hoffman EP.

Muscle Nerve. 2017 Dec;56(6):1119-1127. doi: 10.1002/mus.25752. Epub 2017 Aug 13.

30.

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Zillikens MC, Demissie S, Hsu YH, Yerges-Armstrong LM, Chou WC, Stolk L, Livshits G, Broer L, Johnson T, Koller DL, Kutalik Z, Luan J, Malkin I, Ried JS, Smith AV, Thorleifsson G, Vandenput L, Hua Zhao J, Zhang W, Aghdassi A, Åkesson K, Amin N, Baier LJ, Barroso I, Bennett DA, Bertram L, Biffar R, Bochud M, Boehnke M, Borecki IB, Buchman AS, Byberg L, Campbell H, Campos Obanda N, Cauley JA, Cawthon PM, Cederberg H, Chen Z, Cho NH, Jin Choi H, Claussnitzer M, Collins F, Cummings SR, De Jager PL, Demuth I, Dhonukshe-Rutten RAM, Diatchenko L, Eiriksdottir G, Enneman AW, Erdos M, Eriksson JG, Eriksson J, Estrada K, Evans DS, Feitosa MF, Fu M, Garcia M, Gieger C, Girke T, Glazer NL, Grallert H, Grewal J, Han BG, Hanson RL, Hayward C, Hofman A, Hoffman EP, Homuth G, Hsueh WC, Hubal MJ, Hubbard A, Huffman KM, Husted LB, Illig T, Ingelsson E, Ittermann T, Jansson JO, Jordan JM, Jula A, Karlsson M, Khaw KT, Kilpeläinen TO, Klopp N, Kloth JSL, Koistinen HA, Kraus WE, Kritchevsky S, Kuulasmaa T, Kuusisto J, Laakso M, Lahti J, Lang T, Langdahl BL, Launer LJ, Lee JY, Lerch MM, Lewis JR, Lind L, Lindgren C, Liu Y, Liu T, Liu Y, Ljunggren Ö, Lorentzon M, Luben RN, Maixner W, McGuigan FE, Medina-Gomez C, Meitinger T, Melhus H, Mellström D, Melov S, Michaëlsson K, Mitchell BD, Morris AP, Mosekilde L, Newman A, Nielson CM, O'Connell JR, Oostra BA, Orwoll ES, Palotie A, Parker SCJ, Peacock M, Perola M, Peters A, Polasek O, Prince RL, Räikkönen K, Ralston SH, Ripatti S, Robbins JA, Rotter JI, Rudan I, Salomaa V, Satterfield S, Schadt EE, Schipf S, Scott L, Sehmi J, Shen J, Soo Shin C, Sigurdsson G, Smith S, Soranzo N, Stančáková A, Steinhagen-Thiessen E, Streeten EA, Styrkarsdottir U, Swart KMA, Tan ST, Tarnopolsky MA, Thompson P, Thomson CA, Thorsteinsdottir U, Tikkanen E, Tranah GJ, Tuomilehto J, van Schoor NM, Verma A, Vollenweider P, Völzke H, Wactawski-Wende J, Walker M, Weedon MN, Welch R, Wichmann HE, Widen E, Williams FMK, Wilson JF, Wright NC, Xie W, Yu L, Zhou Y, Chambers JC, Döring A, van Duijn CM, Econs MJ, Gudnason V, Kooner JS, Psaty BM, Spector TD, Stefansson K, Rivadeneira F, Uitterlinden AG, Wareham NJ, Ossowski V, Waterworth D, Loos RJF, Karasik D, Harris TB, Ohlsson C, Kiel DP.

Nat Commun. 2017 Jul 19;8(1):80. doi: 10.1038/s41467-017-00031-7. Erratum in: Nat Commun. 2017 Nov 7;8(1):1414.

31.

African-American esophageal squamous cell carcinoma expression profile reveals dysregulation of stress response and detox networks.

Erkizan HV, Johnson K, Ghimbovschi S, Karkera D, Trachiotis G, Adib H, Hoffman EP, Wadleigh RG.

BMC Cancer. 2017 Jun 19;17(1):426. doi: 10.1186/s12885-017-3423-1.

32.

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA.

Hoffman EP; Workshop Participants; TREAT-NMD Alliance.

Neuromuscul Disord. 2017 Jul;27(7):693-701. doi: 10.1016/j.nmd.2017.02.013. Epub 2017 Mar 4. No abstract available.

PMID:
28434909
33.

Genetic characterization of physical activity behaviours in university students enrolled in kinesiology degree programs.

Many GM, Kendrick Z, Deschamps CL, Sprouse C, Tosi LL, Devaney JM, Gordish-Dressman H, Barfield W, Hoffman EP, Houmard JA, Pescatello LS, Vogel HJ, Shearer J, Hittel DS.

Appl Physiol Nutr Metab. 2017 Mar;42(3):278-284. doi: 10.1139/apnm-2016-0441. Epub 2016 Nov 11.

PMID:
28177749
34.

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.

Hogarth MW, Houweling PJ, Thomas KC, Gordish-Dressman H, Bello L; Cooperative International Neuromuscular Research Group (CINRG), Pegoraro E, Hoffman EP, Head SI, North KN.

Nat Commun. 2017 Jan 31;8:14143. doi: 10.1038/ncomms14143.

35.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PMID:
27854218
36.

Pyruvate Dehydrogenase Phosphatase Regulatory Gene Expression Correlates with Exercise Training Insulin Sensitivity Changes.

Barberio MD, Huffman KM, Giri M, Hoffman EP, Kraus WE, Hubal MJ.

Med Sci Sports Exerc. 2016 Dec;48(12):2387-2397.

37.

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project, Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group.

Am J Hum Genet. 2016 Nov 3;99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023. Epub 2016 Oct 13.

38.

Identification of Pathway-Specific Serum Biomarkers of Response to Glucocorticoid and Infliximab Treatment in Children with Inflammatory Bowel Disease.

Heier CR, Fiorillo AA, Chaisson E, Gordish-Dressman H, Hathout Y, Damsker JM, Hoffman EP, Conklin LS.

Clin Transl Gastroenterol. 2016 Sep 15;7(9):e192. doi: 10.1038/ctg.2016.49.

39.

Lysosomal Acid Lipase Deficiency.

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

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Jul 30 [updated 2016 Sep 1].

40.

Serum pharmacodynamic biomarkers for chronic corticosteroid treatment of children.

Hathout Y, Conklin LS, Seol H, Gordish-Dressman H, Brown KJ, Morgenroth LP, Nagaraju K, Heier CR, Damsker JM, van den Anker JN, Henricson E, Clemens PR, Mah JK, McDonald C, Hoffman EP.

Sci Rep. 2016 Aug 17;6:31727. doi: 10.1038/srep31727.

41.

OPN-a induces muscle inflammation by increasing recruitment and activation of pro-inflammatory macrophages.

Many GM, Yokosaki Y, Uaesoontrachoon K, Nghiem PP, Bello L, Dadgar S, Yin Y, Damsker JM, Cohen HB, Kornegay JN, Bamman MM, Mosser DM, Nagaraju K, Hoffman EP.

Exp Physiol. 2016 Oct 1;101(10):1285-1300. doi: 10.1113/EP085768. Epub 2016 Sep 24.

42.

Correction: 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, Wang D, An L, Gauba R, Seol H, Morgenroth LP, Henricson E, McDonald C, Mah JK, Clemens PR, Hoffman EP, Hathout Y, Madhavan S.

PLoS One. 2016 Jul 19;11(7):e0159895. doi: 10.1371/journal.pone.0159895. eCollection 2016.

43.

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Lee VS, Halabi CM, Hoffman EP, Carmichael N, Leshchiner I, Lian CG, Bierhals AJ, Vuzman D; Brigham Genomic Medicine, Mecham RP, Frank NY, Stitziel NO.

Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):8759-64. doi: 10.1073/pnas.1601442113. Epub 2016 Jul 18.

44.

Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.

Hercher L, Uhlmann WR, Hoffman EP, Gustafson S, Chen KM; Public Policy Committee of NSGC.

J Genet Couns. 2016 Dec;25(6):1139-1145. Epub 2016 Jul 1.

45.

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M.

Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30.

46.

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.

Bello L, Morgenroth LP, Gordish-Dressman H, Hoffman EP, McDonald CM, Cirak S; CINRG investigators.

Neurology. 2016 Jul 26;87(4):401-9. doi: 10.1212/WNL.0000000000002891. Epub 2016 Jun 24.

47.

Muscle myeloid type I interferon gene expression may predict therapeutic responses to rituximab in myositis patients.

Nagaraju K, Ghimbovschi S, Rayavarapu S, Phadke A, Rider LG, Hoffman EP, Miller FW.

Rheumatology (Oxford). 2016 Sep;55(9):1673-80. doi: 10.1093/rheumatology/kew213. Epub 2016 May 23.

48.

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.

49.

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.

50.

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. Erratum in: PLoS One. 2016;11(7):e0159895.

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