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259 results

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Page 1
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.
Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Wigderson M, Tauscher-Wisniewski S, McGill BE, Macek TA. Strauss KA, et al. Among authors: finkel rs. Nat Med. 2022 Jul;28(7):1390-1397. doi: 10.1038/s41591-022-01867-3. Epub 2022 Jun 17. Nat Med. 2022. PMID: 35715567 Free PMC article. Clinical Trial.
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.
Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K. Bertini E, et al. Among authors: finkel rs. Neuromuscul Disord. 2005 Nov;15(11):802-16. doi: 10.1016/j.nmd.2005.07.005. Epub 2005 Oct 3. Neuromuscul Disord. 2005. PMID: 16202598 No abstract available.
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.
Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, Oskoui M, Constantinescu A, Sproule DM, Foley AR, Yang M, Tawil R, Chung W, Martens B, Montes J, O'Hagen J, Dunaway S, Flickinger JM, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Irvine C, Annis CL, Butler H, Caracciolo J, Montgomery M, Marra J, Koo B, De Vivo DC; Muscle Study Group; Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy. Kaufmann P, et al. Arch Neurol. 2011 Jun;68(6):779-86. doi: 10.1001/archneurol.2010.373. Epub 2011 Feb 14. Arch Neurol. 2011. PMID: 21320981 Free PMC article.
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: finkel rs. Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426. Hum Mutat. 2011. PMID: 21972111 Free PMC article.
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.
Crawford TO, Paushkin SV, Kobayashi DT, Forrest SJ, Joyce CL, Finkel RS, Kaufmann P, Swoboda KJ, Tiziano D, Lomastro R, Li RH, Trachtenberg FL, Plasterer T, Chen KS; Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group. Crawford TO, et al. Among authors: finkel rs. PLoS One. 2012;7(4):e33572. doi: 10.1371/journal.pone.0033572. Epub 2012 Apr 27. PLoS One. 2012. PMID: 22558076 Free PMC article. Clinical Trial.
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.
Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P, Li X, Guo Y, Li RH, Trachtenberg F, Forrest SJ, Kobayashi DT, Chen KS, Joyce CL, Plasterer T; Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group. Finkel RS, et al. PLoS One. 2012;7(4):e35462. doi: 10.1371/journal.pone.0035462. Epub 2012 Apr 27. PLoS One. 2012. PMID: 22558154 Free PMC article. Clinical Trial.
259 results