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98 results

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Page 1
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Aragon-Gawinska K, Daron A, Ulinici A, Vanden Brande L, Seferian A, Gidaro T, Scoto M, Deconinck N, Servais L; SMA-Registry Study Group. Aragon-Gawinska K, et al. Among authors: scoto m. Dev Med Child Neurol. 2020 Mar;62(3):310-314. doi: 10.1111/dmcn.14412. Epub 2019 Dec 4. Dev Med Child Neurol. 2020. PMID: 31799720 Free article.
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.
Old measures and new scores in spinal muscular atrophy patients.
Mazzone E, Montes J, Main M, Mayhew A, Ramsey D, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, D'amico A, Van Den Hauwe M, Sivo S, Goemans N, Darras BT, Kaufmann P, Bertini E, De Vivo DC, Muntoni F, Finkel R, Mercuri E. Mazzone E, et al. Among authors: scoto m. Muscle Nerve. 2015 Sep;52(3):435-7. doi: 10.1002/mus.24748. Epub 2015 Jul 24. Muscle Nerve. 2015. PMID: 26111847
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.
Ramsey D, Scoto M, Mayhew A, Main M, Mazzone ES, Montes J, de Sanctis R, Dunaway Young S, Salazar R, Glanzman AM, Pasternak A, Quigley J, Mirek E, Duong T, Gee R, Civitello M, Tennekoon G, Pane M, Pera MC, Bushby K, Day J, Darras BT, De Vivo D, Finkel R, Mercuri E, Muntoni F. Ramsey D, et al. Among authors: scoto m. PLoS One. 2017 Feb 21;12(2):e0172346. doi: 10.1371/journal.pone.0172346. eCollection 2017. PLoS One. 2017. PMID: 28222119 Free PMC article.
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
Pera MC, Coratti G, Forcina N, Mazzone ES, Scoto M, Montes J, Pasternak A, Mayhew A, Messina S, Sframeli M, Main M, Lofra RM, Duong T, Ramsey D, Dunaway S, Salazar R, Fanelli L, Civitello M, de Sanctis R, Antonaci L, Lapenta L, Lucibello S, Pane M, Day J, Darras BT, De Vivo DC, Muntoni F, Finkel R, Mercuri E. Pera MC, et al. Among authors: scoto m. BMC Neurol. 2017 Feb 23;17(1):39. doi: 10.1186/s12883-017-0790-9. BMC Neurol. 2017. PMID: 28231823 Free PMC article.
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.
Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P; Olesoxime SMA Phase 2 Study Investigators. Bertini E, et al. Lancet Neurol. 2017 Jul;16(7):513-522. doi: 10.1016/S1474-4422(17)30085-6. Epub 2017 Apr 28. Lancet Neurol. 2017. PMID: 28460889 Free article. Clinical Trial.
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. 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.
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.
Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, Mercuri E. Montes J, et al. Among authors: scoto m. PLoS One. 2018 Jun 26;13(6):e0199657. doi: 10.1371/journal.pone.0199657. eCollection 2018. PLoS One. 2018. PMID: 29944707 Free PMC article.
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L. Aragon-Gawinska K, et al. Among authors: scoto m. Neurology. 2018 Oct 2;91(14):e1312-e1318. doi: 10.1212/WNL.0000000000006281. Epub 2018 Aug 29. Neurology. 2018. PMID: 30158155 Clinical Trial.
98 results