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1.

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy.

Conrado DJ, Larkindale J, Berg A, Hill M, Burton J, Abrams KR, Abresch RT, Bronson A, Chapman D, Crowther M, Duong T, Gordish-Dressman H, Harnisch L, Henricson E, Kim S, McDonald CM, Schmidt S, Vong C, Wang X, Wong BL, Yong F, Romero K; Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC).

J Pharmacokinet Pharmacodyn. 2019 May 24. doi: 10.1007/s10928-019-09642-7. [Epub ahead of print]

PMID:
31127458
2.

Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids.

McDonald CM, Gordish-Dressman H, Henricson EK, Duong T, Joyce NC, Jhawar S, Leinonen M, Hsu F, Connolly AM, Cnaan A, Abresch RT; CINRG investigators for PubMed.

Neuromuscul Disord. 2018 Nov;28(11):897-909. doi: 10.1016/j.nmd.2018.07.004. Epub 2018 Aug 29.

3.

Regional variation of Guillain-Barré syndrome.

Doets AY, Verboon C, van den Berg B, Harbo T, Cornblath DR, Willison HJ, Islam Z, Attarian S, Barroso FA, Bateman K, Benedetti L, van den Bergh P, Casasnovas C, Cavaletti G, Chavada G, Claeys KG, Dardiotis E, Davidson A, van Doorn PA, Feasby TE, Galassi G, Gorson KC, Hartung HP, Hsieh ST, Hughes RAC, Illa I, Islam B, Kusunoki S, Kuwabara S, Lehmann HC, Miller JAL, Mohammad QD, Monges S, Nobile Orazio E, Pardo J, Pereon Y, Rinaldi S, Querol L, Reddel SW, Reisin RC, Shahrizaila N, Sindrup SH, Waqar W, Jacobs BC; IGOS Consortium.

Brain. 2018 Oct 1;141(10):2866-2877. doi: 10.1093/brain/awy232.

4.

International Guillain-Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome.

Jacobs BC, van den Berg B, Verboon C, Chavada G, Cornblath DR, Gorson KC, Harbo T, Hartung HP, Hughes RAC, Kusunoki S, van Doorn PA, Willison HJ; IGOS Consortium.

J Peripher Nerv Syst. 2017 Jun;22(2):68-76. doi: 10.1111/jns.12209.

PMID:
28406555
5.

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.

6.

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
7.

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.

8.

Comparative Long-Term Evaluation of Patients With Juvenile Inflammatory Myopathies.

Elahi HA, Bertorini TE, Igarashi M, Mays WH 3rd, Whitaker JN.

J Clin Neuromuscul Dis. 2016 Sep;18(1):21-7. doi: 10.1097/CND.0000000000000131.

PMID:
27552385
9.

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 Oct;24(10):1511-4. doi: 10.1038/ejhg.2016.22. Epub 2016 Mar 9.

10.

An Overview of Laryngeal Muscle Single Fiber Electromyography.

Bertorini TE, Sharaf AG.

J Clin Neurophysiol. 2015 Aug;32(4):304-8. doi: 10.1097/WNP.0000000000000176. Review.

PMID:
26241239
11.

An adult male with progressive spastic paraparesis and gait instability.

Ly H, Bertorini TE, Shah N.

J Clin Neuromuscul Dis. 2014 Dec;16(2):98-103. doi: 10.1097/CND.0000000000000058.

PMID:
25415522
12.

Neurologic complications of disorders of the adrenal glands.

Bertorini TE, Perez A.

Handb Clin Neurol. 2014;120:749-71. doi: 10.1016/B978-0-7020-4087-0.00050-4. Review.

PMID:
24365350
13.

A male with progressive lower extremity weakness and monoclonal gammopathy.

Mansoor S, Bertorini TE.

J Clin Neuromuscul Dis. 2013 Jun;14(4):194-203. doi: 10.1097/CND.0b013e31829081cc.

PMID:
23703016
14.

Dermatomyositis presenting with focal scleroderma-like skin changes.

Chai Y, Bertorini TE, Khan RB, Randall MB, Shadle MK.

J Clin Neuromuscul Dis. 2012 Jun;13(4):191-5. doi: 10.1097/CND.0b013e3182461966.

PMID:
22622162
15.

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy.

Escolar DM, Hache LP, Clemens PR, Cnaan A, McDonald CM, Viswanathan V, Kornberg AJ, Bertorini TE, Nevo Y, Lotze T, Pestronk A, Ryan MM, Monasterio E, Day JW, Zimmerman A, Arrieta A, Henricson E, Mayhew J, Florence J, Hu F, Connolly AM.

Neurology. 2011 Aug 2;77(5):444-52. doi: 10.1212/WNL.0b013e318227b164. Epub 2011 Jul 13.

16.

Limb edema and anasarca associated with severe dermatomyositis: report of four cases.

Chai Y, Bertorini TE, Li YD, Mitchell C, Guan H.

Neuromuscul Disord. 2011 Jun;21(6):439-42. doi: 10.1016/j.nmd.2011.03.003. Epub 2011 Apr 11.

PMID:
21482469
17.

Effects of 3-4 diaminopyridine (DAP) in motor neuron diseases.

Bertorini TE, Rashed H, Zeno M, Tolley EA, Igarashi M, Li YD.

J Clin Neuromuscul Dis. 2011 Mar;12(3):129-37. doi: 10.1097/CND.0b013e3182095b2b.

PMID:
21321491
18.

Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings.

Chai Y, Bertorini TE, McGrew FA.

Muscle Nerve. 2011 Jan;43(1):133-6. doi: 10.1002/mus.21839.

PMID:
21082694
19.

A female with progressive four-limb paresthesias and gait difficulty.

Chai Y, Bertorini TE.

J Clin Neuromuscul Dis. 2010 Jun;11(4):191-7. doi: 10.1097/CND.0b013e3181be0f41.

PMID:
20516807
20.

Artifact on electromyography produced by an implanted sacral nerve stimulator.

O'carroll P, Bertorini TE, Maccarino S.

J Clin Neuromuscul Dis. 2009 Dec;11(2):77-8. doi: 10.1097/CND.0b013e3181b40d37.

PMID:
19955988

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