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Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Lietsch M, Chan K, Taylor J, Lee BH, Ciafaloni E, Kwon JM, Waldrop MA, Butterfield RJ, Rathore G, Veerapandiyan A, Kapil A, Parsons JA, Gibbons M, Brower A. Lietsch M, et al. Among authors: butterfield rj. Int J Neonatal Screen. 2024 Apr 18;10(2):34. doi: 10.3390/ijns10020034. Int J Neonatal Screen. 2024. PMID: 38651399 Free PMC article.
Spinal muscular atrophy care in the COVID-19 pandemic era.
Veerapandiyan A, Connolly AM, Finkel RS, Arya K, Mathews KD, Smith EC, Castro D, Butterfield RJ, Parsons JA, Servais L, Kuntz N, Rao VK, Brandsema JF, Mercuri E, Ciafaloni E. Veerapandiyan A, et al. Among authors: butterfield rj. Muscle Nerve. 2020 Jul;62(1):46-49. doi: 10.1002/mus.26903. Epub 2020 May 3. Muscle Nerve. 2020. PMID: 32329921 Free PMC article. Review.
The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic.
Veerapandiyan A, Wagner KR, Apkon S, McDonald CM, Mathews KD, Parsons JA, Wong BL, Eichinger K, Shieh PB, Butterfield RJ, Rao VK, Smith EC, Proud CM, Connolly AM, Ciafaloni E. Veerapandiyan A, et al. Among authors: butterfield rj. Muscle Nerve. 2020 Jul;62(1):41-45. doi: 10.1002/mus.26902. Epub 2020 May 5. Muscle Nerve. 2020. PMID: 32329920 Free PMC article. Review.
Medical management of muscle weakness in Duchenne muscular dystrophy.
Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, Darras BT, Iannaccone ST, Konersman CG, Kuntz NL, McDonald CM, Parsons JA, Tesi Rocha C, Zaidman CM, Butterfield RJ, Connolly AM, Mathews KD. Rivera SR, et al. Among authors: butterfield rj. PLoS One. 2020 Oct 19;15(10):e0240687. doi: 10.1371/journal.pone.0240687. eCollection 2020. PLoS One. 2020. PMID: 33075081 Free PMC article.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Waldrop MA, et al. Among authors: butterfield rj. Hum Mutat. 2022 Apr;43(4):511-528. doi: 10.1002/humu.24343. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35165973 Free PMC article.
Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
Mathews KD, Conway KM, Gedlinske AM, Johnson N, Street N, Butterfield RJ, Hung M, Ciafaloni E, Romitti PA. Mathews KD, et al. Among authors: butterfield rj. Children (Basel). 2021 Sep 23;8(10):835. doi: 10.3390/children8100835. Children (Basel). 2021. PMID: 34682100 Free PMC article.
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W; NURTURE Study Group. De Vivo DC, et al. Among authors: butterfield rj. Neuromuscul Disord. 2019 Nov;29(11):842-856. doi: 10.1016/j.nmd.2019.09.007. Epub 2019 Sep 12. Neuromuscul Disord. 2019. PMID: 31704158 Free PMC article. Clinical Trial.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Crawford TO, Swoboda KJ, De Vivo DC, Bertini E, Hwu WL, Finkel RS, Kirschner J, Kuntz NL, Nazario AN, Parsons JA, Pechmann A, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Zhu C, Raynaud S, Lago TR, Paradis AD, Foster R, Chin R, Berger Z; NURTURE Study Group. Crawford TO, et al. Among authors: butterfield rj. Muscle Nerve. 2023 Aug;68(2):157-170. doi: 10.1002/mus.27853. Epub 2023 Jul 6. Muscle Nerve. 2023. PMID: 37409780
Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
Haber G, Conway KM, Paramsothy P, Roy A, Rogers H, Ling X, Kozauer N, Street N, Romitti PA, Fox DJ, Phan HC, Matthews D, Ciafaloni E, Oleszek J, James KA, Galindo M, Whitehead N, Johnson N, Butterfield RJ, Pandya S, Venkatesh S, Bhattaram VA. Haber G, et al. Among authors: butterfield rj. Muscle Nerve. 2021 Feb;63(2):181-191. doi: 10.1002/mus.27113. Epub 2020 Nov 17. Muscle Nerve. 2021. PMID: 33150975 Free PMC article.
Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy.
Shieh PB, Elfring G, Trifillis P, Santos C, Peltz SW, Parsons JA, Apkon S, Darras BT, Campbell C, McDonald CM; Members of the Ataluren Phase IIb Study Group; Members of the Ataluren Phase IIb Study Clinical Evaluator Training Group; Members of the ACT DMD Study Group; Members of the ACT DMD Clinical Evaluator Training Group. Shieh PB, et al. J Comp Eff Res. 2021 Dec;10(18):1337-1347. doi: 10.2217/cer-2021-0018. Epub 2021 Oct 25. J Comp Eff Res. 2021. PMID: 34693725 Free article.
116 results