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84 results

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Page 1
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Finkel RS, et al. Among authors: glanzman am. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. N Engl J Med. 2017. PMID: 29091570 Free article. Clinical Trial.
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. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group. Mercuri E, et al. Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29290580 Free article. Review.
Revised upper limb module for spinal muscular atrophy: Development of a new module.
Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E. Mazzone ES, et al. Among authors: glanzman a. Muscle Nerve. 2017 Jun;55(6):869-874. doi: 10.1002/mus.25430. Epub 2017 Feb 6. Muscle Nerve. 2017. PMID: 27701745
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.
Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Mercuri E, et al. N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504. N Engl J Med. 2018. PMID: 29443664 Free article. Clinical Trial.
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group; Spiegel R, Barth J, Elfring G, Reha A, Peltz SW. McDonald CM, et al. Among authors: glanzman am. Muscle Nerve. 2013 Sep;48(3):357-68. doi: 10.1002/mus.23905. Epub 2013 Jul 17. Muscle Nerve. 2013. PMID: 23674289 Free PMC article. Clinical Trial.
[No title available]
Montes J, Young SD, Mazzone E, Main M; International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group. Montes J, et al. Neuromuscul Disord. 2017 Jul 12:S0960-8966(17)30577-1. doi: 10.1016/j.nmd.2017.07.005. Online ahead of print. Neuromuscul Disord. 2017. PMID: 28917631 No abstract available.
Observational study of spinal muscular atrophy type I and implications for clinical trials.
Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC. Finkel RS, et al. Among authors: glanzman am. Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30. Neurology. 2014. PMID: 25080519 Free PMC article.
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J, Fan J, Wellik A, Ganetzky R, Goldstein A, Muraresku CC, Glanzman AM, Ballance E, Leonhardt K, McCormick EM, Soreth B, Nguyen S, Gornish J, George-Sankoh I, Peterson J, MacMullen LE, Vishnubhatt S, McBride M, Haas R, Falk MJ, Xiao R, Zolkipli-Cunningham Z. Flickinger J, et al. Among authors: glanzman am. JCSM Clin Rep. 2021 Oct;6(4):109-127. Epub 2021 Aug 30. JCSM Clin Rep. 2021. PMID: 35071983 Free PMC article.
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
Wolfe A, Stimpson G, Ramsey D, Coratti G, Dunaway Young S, Mayhew A, Pane M, Rohwer A, Muni Lofra R, Duong T, O'Reilly E, Milev E, Civitello M, Sansone VA, D'Amico A, Bertini E, Messina S, Bruno C, Albamonte E, Mazzone E, Main M, Montes J, Glanzman AM, Zolkipli-Cunningham Z, Pasternak A, Marini-Bettolo C, Day JW, Darras BT, De Vivo DC, Baranello G, Scoto M, Finkel RS, Mercuri E, Muntoni F; international SMA consortium (iSMAc). Wolfe A, et al. Among authors: glanzman am. J Neuromuscul Dis. 2024;11(3):665-677. doi: 10.3233/JND-230211. J Neuromuscul Dis. 2024. PMID: 38427497 Free PMC article.
84 results