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255 results

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Page 1
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
Finkel RS, Darras BT, Mendell JR, Day JW, Kuntz NL, Connolly AM, Zaidman CM, Crawford TO, Butterfield RJ, Shieh PB, Tennekoon G, Brandsema JF, Iannaccone ST, Shoffner J, Kavanagh S, Macek TA, Tauscher-Wisniewski S. Finkel RS, et al. J Neuromuscul Dis. 2023;10(3):389-404. doi: 10.3233/JND-221560. J Neuromuscul Dis. 2023. PMID: 36911944 Free PMC article.
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.
O'Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, Riley S, Sanborn E, Irvine C, Martens WB, Annis C, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC. O'Hagen JM, et al. Among authors: finkel rs. Neuromuscul Disord. 2007 Oct;17(9-10):693-7. doi: 10.1016/j.nmd.2007.05.009. Epub 2007 Jul 19. Neuromuscul Disord. 2007. PMID: 17658255
Consensus statement for standard of care in spinal muscular atrophy.
Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A; Participants of the International Conference on SMA Standard of Care. Wang CH, et al. Among authors: finkel rs. J Child Neurol. 2007 Aug;22(8):1027-49. doi: 10.1177/0883073807305788. J Child Neurol. 2007. PMID: 17761659
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
Flanigan KM, Dunn DM, von Niederhausern A, Howard MT, Mendell J, Connolly A, Saunders C, Modrcin A, Dasouki M, Comi GP, Del Bo R, Pickart A, Jacobson R, Finkel R, Medne L, Weiss RB. Flanigan KM, et al. Neuromuscul Disord. 2009 Nov;19(11):743-8. doi: 10.1016/j.nmd.2009.08.010. Epub 2009 Sep 29. Neuromuscul Disord. 2009. PMID: 19793655 Free PMC article.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: finkel rs. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy.
Montes J, McDermott MP, Martens WB, Dunaway S, Glanzman AM, Riley S, Quigley J, Montgomery MJ, Sproule D, Tawil R, Chung WK, Darras BT, De Vivo DC, Kaufmann P, Finkel RS; Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network. Montes J, et al. Among authors: finkel rs. Neurology. 2010 Mar 9;74(10):833-8. doi: 10.1212/WNL.0b013e3181d3e308. Neurology. 2010. PMID: 20211907 Free PMC article.
Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy.
Sproule DM, Montes J, Dunaway S, Montgomery M, Battista V, Koenigsberger D, Martens B, Shen W, Punyanitya M, Benton M, Butler H, Caracciolo J, Mercuri E, Finkel R, Darras B, De Vivo DC, Kaufmann P. Sproule DM, et al. Neuromuscul Disord. 2010 Jul;20(7):448-52. doi: 10.1016/j.nmd.2010.05.013. Epub 2010 Jun 17. Neuromuscul Disord. 2010. PMID: 20610154 Free PMC article.
255 results