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Items: 1 to 50 of 331

1.

Eteplirsen treatment for Duchenne muscular dystrophy: Exon skipping and dystrophin production.

Charleston JS, Schnell FJ, Dworzak J, Donoghue C, Lewis S, Chen L, Young GD, Milici AJ, Voss J, DeAlwis U, Wentworth B, Rodino-Klapac LR, Sahenk Z, Frank D, Mendell JR.

Neurology. 2018 Jun 12;90(24):e2146-e2154. doi: 10.1212/WNL.0000000000005680. Epub 2018 May 11. Erratum in: Neurology. 2018 Sep 25;91(13):637.

PMID:
29752304
2.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.

3.

Therapy for Spinal Muscular Atrophy.

Mendell JR.

N Engl J Med. 2018 Feb 1;378(5):487. doi: 10.1056/NEJMc1715769. No abstract available.

PMID:
29394473
4.

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226. doi: 10.1136/jnnp-2017-317329. Epub 2018 Jan 29. No abstract available.

5.

Leg muscle MRI in identical twin boys with duchenne muscular dystrophy.

Willcocks RJ, Triplett WT, Lott DJ, Forbes SC, Batra A, Sweeney HL, Mendell JR, Vandenborne K, Walter GA.

Muscle Nerve. 2018 Jan 24. doi: 10.1002/mus.26081. [Epub ahead of print] No abstract available.

PMID:
29365354
6.

Long-Term Pulmonary Function in Duchenne Muscular Dystrophy: Comparison of Eteplirsen-Treated Patients to Natural History.

Kinane TB, Mayer OH, Duda PW, Lowes LP, Moody SL, Mendell JR.

J Neuromuscul Dis. 2018;5(1):47-58. doi: 10.3233/JND-170272.

7.

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.

Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK.

N Engl J Med. 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198.

8.

Reducing sarcolipin expression mitigates Duchenne muscular dystrophy and associated cardiomyopathy in mice.

Voit A, Patel V, Pachon R, Shah V, Bakhutma M, Kohlbrenner E, McArdle JJ, Dell'Italia LJ, Mendell JR, Xie LH, Hajjar RJ, Duan D, Fraidenraich D, Babu GJ.

Nat Commun. 2017 Oct 20;8(1):1068. doi: 10.1038/s41467-017-01146-7.

9.

Reply to Letter to the Editor.

Mendell JR.

Mol Ther. 2017 Oct 4;25(10):2238-2240. doi: 10.1016/j.ymthe.2017.09.003. Epub 2017 Sep 8. No abstract available.

10.

Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy.

Potter RA, Griffin DA, Sondergaard PC, Johnson RW, Pozsgai ER, Heller KN, Peterson EL, Lehtimäki KK, Windish HP, Mittal PJ, Albrecht DE, Mendell JR, Rodino-Klapac LR.

Hum Gene Ther. 2018 Jul;29(7):749-762. doi: 10.1089/hum.2017.062. Epub 2017 Jul 13.

11.

MicroRNA-29 overexpression by adeno-associated virus suppresses fibrosis and restores muscle function in combination with micro-dystrophin.

Heller KN, Mendell JT, Mendell JR, Rodino-Klapac LR.

JCI Insight. 2017 May 4;2(9). pii: 93309. doi: 10.1172/jci.insight.93309. [Epub ahead of print]

12.

Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice.

Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR.

Mol Ther. 2017 Apr 5;25(4):855-869. doi: 10.1016/j.ymthe.2017.02.013. Epub 2017 Mar 9.

13.

Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes.

Mendell JR, Sahenk Z, Al-Zaidy S, Rodino-Klapac LR, Lowes LP, Alfano LN, Berry K, Miller N, Yalvac M, Dvorchik I, Moore-Clingenpeel M, Flanigan KM, Church K, Shontz K, Curry C, Lewis S, McColly M, Hogan MJ, Kaspar BK.

Mol Ther. 2017 Apr 5;25(4):870-879. doi: 10.1016/j.ymthe.2017.02.015. Epub 2017 Mar 6.

14.

The 100-meter timed test: Normative data in healthy males and comparative pilot outcome data for use in Duchenne muscular dystrophy clinical trials.

Alfano LN, Miller NF, Berry KM, Yin H, Rolf KE, Flanigan KM, Mendell JR, Lowes LP.

Neuromuscul Disord. 2017 May;27(5):452-457. doi: 10.1016/j.nmd.2017.02.007. Epub 2017 Feb 17.

PMID:
28279570
15.

Reply.

Mendell JR.

Ann Neurol. 2017 Jan;81(1):164-165. doi: 10.1002/ana.24843. No abstract available.

PMID:
27997029
16.

"The Certified Duchenne Care Center Program".

Kinnett K, Dowling JJ, Mendell JR.

Neuromuscul Disord. 2016 Dec;26(12):853-859. doi: 10.1016/j.nmd.2016.09.007. Epub 2016 Sep 19.

PMID:
27856129
17.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium.

Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug.

18.

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy.

Griggs RC, Miller JP, Greenberg CR, Fehlings DL, Pestronk A, Mendell JR, Moxley RT 3rd, King W, Kissel JT, Cwik V, Vanasse M, Florence JM, Pandya S, Dubow JS, Meyer JM.

Neurology. 2016 Nov 15;87(20):2123-2131. Epub 2016 Aug 26.

19.

Modeling functional decline over time in sporadic inclusion body myositis.

Alfano LN, Yin H, Dvorchik I, Maus EG, Flanigan KM, Mendell JR, Lowes LP.

Muscle Nerve. 2017 Apr;55(4):526-531. doi: 10.1002/mus.25373. Epub 2016 Dec 28.

PMID:
27511790
20.

Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.

Kwon JM, Abdel-Hamid HZ, Al-Zaidy SA, Mendell JR, Kennedy A, Kinnett K, Cwik VA, Street N, Bolen J, Day JW, Connolly AM.

Muscle Nerve. 2016 Aug;54(2):186-91. doi: 10.1002/mus.25185. Epub 2016 Jun 13.

21.

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.

Connolly AM, Florence JM, Zaidman CM, Golumbek PT, Mendell JR, Flanigan KM, Karachunski PI, Day JW, McDonald CM, Darras BT, Kang PB, Siener CA, Gadeken RK, Anand P, Schierbecker JR, Malkus EC, Lowes LP, Alfano LN, Johnson L, Nicorici A, Kelecic JM, Quigley J, Pasternak AE, Miller JP; MDA-DMD Clinical Research Network.

Muscle Nerve. 2016 Oct;54(4):681-9. doi: 10.1002/mus.25089. Epub 2016 May 10.

PMID:
26930423
22.

Duchenne muscular dystrophy: CRISPR/Cas9 treatment.

Mendell JR, Rodino-Klapac LR.

Cell Res. 2016 May;26(5):513-4. doi: 10.1038/cr.2016.28. Epub 2016 Mar 1.

23.

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.

Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, Kaye EM, Mercuri E; Eteplirsen Study Group and Telethon Foundation DMD Italian Network.

Ann Neurol. 2016 Feb;79(2):257-71. doi: 10.1002/ana.24555. Epub 2016 Jan 8.

24.

Follistatin Gene Therapy Improves Ambulation in Becker Muscular Dystrophy.

Al-Zaidy SA, Sahenk Z, Rodino-Klapac LR, Kaspar B, Mendell JR.

J Neuromuscul Dis. 2015 Sep 2;2(3):185-192.

25.

β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice.

Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR.

Gene Ther. 2016 Jan;23(1):57-66. doi: 10.1038/gt.2015.80. Epub 2015 Aug 20.

PMID:
26214262
26.

AAV1.NT-3 gene therapy attenuates spontaneous autoimmune peripheral polyneuropathy.

Yalvac ME, Arnold WD, Braganza C, Chen L, Mendell JR, Sahenk Z.

Gene Ther. 2016 Jan;23(1):95-102. doi: 10.1038/gt.2015.67. Epub 2015 Jun 30.

27.

Human α7 Integrin Gene (ITGA7) Delivered by Adeno-Associated Virus Extends Survival of Severely Affected Dystrophin/Utrophin-Deficient Mice.

Heller KN, Montgomery CL, Shontz KM, Clark KR, Mendell JR, Rodino-Klapac LR.

Hum Gene Ther. 2015 Oct;26(10):647-56. doi: 10.1089/hum.2015.062. Epub 2015 Aug 11.

28.

AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models.

Sondergaard PC, Griffin DA, Pozsgai ER, Johnson RW, Grose WE, Heller KN, Shontz KM, Montgomery CL, Liu J, Clark KR, Sahenk Z, Mendell JR, Rodino-Klapac LR.

Ann Clin Transl Neurol. 2015 Mar;2(3):256-70. doi: 10.1002/acn3.172. Epub 2015 Jan 20.

29.

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR.

Mol Genet Genomic Med. 2015 Mar;3(2):92-8. doi: 10.1002/mgg3.125. Epub 2015 Jan 8.

30.

Perspectives on best practices for gene therapy programs.

Cheever TR, Berkley D, Braun S, Brown RH, Byrne BJ, Chamberlain JS, Cwik V, Duan D, Federoff HJ, High KA, Kaspar BK, Klinger KW, Larkindale J, Lincecum J, Mavilio F, McDonald CL, McLaughlin J, Weiss McLeod B, Mendell JR, Nuckolls G, Stedman HH, Tagle DA, Vandenberghe LH, Wang H, Wernett PJ, Wilson JM, Porter JD, Gubitz AK.

Hum Gene Ther. 2015 Mar;26(3):127-33. doi: 10.1089/hum.2014.147. Epub 2015 Mar 3.

31.

Reliability and validity of active-seated: An outcome in dystrophinopathy.

Lowes LP, Alfano LN, Crawfis R, Berry K, Yin H, Dvorchik I, Flanigan KM, Mendell JR.

Muscle Nerve. 2015 Sep;52(3):356-62. doi: 10.1002/mus.24557. Epub 2015 Jul 2.

PMID:
25641021
32.

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, Nicolas A, Le Rumeur E, Weiss RB, Flanigan KM; United Dystrophinopathy Project.

Ann Neurol. 2015 Apr;77(4):668-74. doi: 10.1002/ana.24365. Epub 2015 Mar 2.

33.

Visual diagnosis: chest pain in a boy with duchenne muscular dystrophy and cardiomyopathy.

Thrush PT, Flanigan KM, Mendell JR, Raman SV, Daniels CJ, Allen HD.

Pediatr Rev. 2014 Dec;35(12):e64-7. doi: 10.1542/pir.35-12-e64. No abstract available.

PMID:
25452666
34.

Gene therapy for muscular dystrophy: moving the field forward.

Al-Zaidy S, Rodino-Klapac L, Mendell JR.

Pediatr Neurol. 2014 Nov;51(5):607-18. doi: 10.1016/j.pediatrneurol.2014.08.002. Epub 2014 Aug 7. Review.

35.

Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates.

Meyer K, Ferraiuolo L, Schmelzer L, Braun L, McGovern V, Likhite S, Michels O, Govoni A, Fitzgerald J, Morales P, Foust KD, Mendell JR, Burghes AH, Kaspar BK.

Mol Ther. 2015 Mar;23(3):477-87. doi: 10.1038/mt.2014.210. Epub 2014 Oct 31.

36.

A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.

Mendell JR, Sahenk Z, Malik V, Gomez AM, Flanigan KM, Lowes LP, Alfano LN, Berry K, Meadows E, Lewis S, Braun L, Shontz K, Rouhana M, Clark KR, Rosales XQ, Al-Zaidy S, Govoni A, Rodino-Klapac LR, Hogan MJ, Kaspar BK.

Mol Ther. 2015 Jan;23(1):192-201. doi: 10.1038/mt.2014.200. Epub 2014 Oct 17.

37.

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.

Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, Siener CA, Golumbek PT, Zaidman CM, Mcdonald CM, Johnson L, Nicorici A, Karachunski PI, Day JW, Kelecic JM, Lowes LP, Alfano LN, Darras BT, Kang PB, Quigley J, Pasternak AE, Florence JM; MDA DMD Clinical Research Network.

Muscle Nerve. 2015 Apr;51(4):522-32. doi: 10.1002/mus.24346. Epub 2015 Feb 11.

38.

Charting a clear path: the ASGCT Standardized Pathways Conference.

Kiem HP, Baum C, Bushman FD, Byrne BJ, Carter BJ, Cavagnaro J, Malech HL, Mendell JR, Naldini LM, Sorrentino BP, Williams DA, Flotte TR.

Mol Ther. 2014 Jul;22(7):1235-1238. doi: 10.1038/mt.2014.95. No abstract available.

39.

One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.

Connolly AM, Florence JM, Cradock MM, Eagle M, Flanigan KM, McDonald CM, Karachunski PI, Darras BT, Bushby K, Malkus EC, Golumbek PT, Zaidman CM, Miller JP, Mendell JR; MDA DMD Clinical Research Network.

Pediatr Neurol. 2014 Jun;50(6):557-63. doi: 10.1016/j.pediatrneurol.2014.02.006. Epub 2014 Feb 15.

40.

RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.

Liu J, Wallace LM, Garwick-Coppens SE, Sloboda DD, Davis CS, Hakim CH, Hauser MA, Brooks SV, Mendell JR, Harper SQ.

Mol Ther Nucleic Acids. 2014 Apr 29;3:e160. doi: 10.1038/mtna.2014.13.

41.

VIP-expressing dendritic cells protect against spontaneous autoimmune peripheral polyneuropathy.

Yalvac ME, Arnold WD, Hussain SA, Braganza C, Shontz KM, Clark KR, Walker CM, Ubogu EE, Mendell JR, Sahenk Z.

Mol Ther. 2014 Jul;22(7):1353-1363. doi: 10.1038/mt.2014.77. Epub 2014 Apr 25.

42.

Dexmedetomidine and ketamine sedation for muscle biopsies in patients with Duchenne muscular dystrophy.

Kako H, Corridore M, Kean J, Mendell JR, Flanigan KM, Tobias JD.

Paediatr Anaesth. 2014 Aug;24(8):851-6. doi: 10.1111/pan.12387. Epub 2014 Mar 20.

PMID:
24646124
43.

A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy.

Allen HD, Flanigan KM, Thrush PT, Dvorchik I, Yin H, Canter C, Connolly AM, Parrish M, McDonald CM, Braunlin E, Colan SD, Day J, Darras B, Mendell JR.

PLoS Curr. 2013 Dec 12;5. pii: ecurrents.md.2cc69a1dae4be7dfe2bcb420024ea865. doi: 10.1371/currents.md.2cc69a1dae4be7dfe2bcb420024ea865. Erratum in: PLoS Curr. 2015;7. pii: ecurrents.md.995441cf82fd58a29c6e4fdd5cd36b89. doi: 10.1371/currents.md.995441cf82fd58a29c6e4fdd5cd36b89.

44.

The 2-min walk test is sufficient for evaluating walking abilities in sporadic inclusion body myositis.

Alfano LN, Lowes LP, Dvorchik I, Yin H, Maus EG, Flanigan KM, Mendell JR.

Neuromuscul Disord. 2014 Mar;24(3):222-6. doi: 10.1016/j.nmd.2013.11.012. Epub 2013 Dec 1.

PMID:
24342281
45.

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.

Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B, Krahe R.

Neuromuscul Disord. 2014 Mar;24(3):227-40. doi: 10.1016/j.nmd.2013.11.001. Epub 2013 Nov 15.

46.

Reply: To PMID 23907995.

Mendell JR, Kaye EM.

Ann Neurol. 2014 Feb;75(2):329. doi: 10.1002/ana.24084. Epub 2014 Feb 24. No abstract available.

PMID:
24327516
47.

Plasmapheresis eliminates the negative impact of AAV antibodies on microdystrophin gene expression following vascular delivery.

Chicoine LG, Montgomery CL, Bremer WG, Shontz KM, Griffin DA, Heller KN, Lewis S, Malik V, Grose WE, Shilling CJ, Campbell KJ, Preston TJ, Coley BD, Martin PT, Walker CM, Clark KR, Sahenk Z, Mendell JR, Rodino-Klapac LR.

Mol Ther. 2014 Feb;22(2):338-347. doi: 10.1038/mt.2013.244. Epub 2013 Oct 23.

48.

AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy.

Sahenk Z, Galloway G, Clark KR, Malik V, Rodino-Klapac LR, Kaspar BK, Chen L, Braganza C, Montgomery C, Mendell JR.

Mol Ther. 2014 Mar;22(3):511-521. doi: 10.1038/mt.2013.250. Epub 2013 Oct 28.

49.

Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin α2 surrogates.

Chicoine LG, Rodino-Klapac LR, Shao G, Xu R, Bremer WG, Camboni M, Golden B, Montgomery CL, Shontz K, Heller KN, Griffin DA, Lewis S, Coley BD, Walker CM, Clark KR, Sahenk Z, Mendell JR, Martin PT.

Mol Ther. 2014 Apr;22(4):713-24. doi: 10.1038/mt.2013.246. Epub 2013 Oct 22.

50.

Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect.

Flanigan KM, Campbell K, Viollet L, Wang W, Gomez AM, Walker CM, Mendell JR.

Hum Gene Ther. 2013 Sep;24(9):797-806. doi: 10.1089/hum.2013.092.

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