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Year Number of Results
1974 1
1978 1
2008 1
2016 1
2017 2
2018 1
2020 3
2021 2
2023 2
2024 0

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13 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. 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.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
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.
Time and Motion at the Endoscopy Unit-A University Hospital Experience.
Söderberg S, Nyhlin N, Moro A, Figaro C, Fransson E, Stefansdotter J, Schagerström M, Lindblad M, Ahlzén M, Zukovets O, Borell S, Johansson V, Axman M, Wendt A, Falck H, van Nieuwenhoven MA. Söderberg S, et al. Among authors: borell s. Health Serv Res Manag Epidemiol. 2023 Mar 9;10:23333928231159808. doi: 10.1177/23333928231159808. eCollection 2023 Jan-Dec. Health Serv Res Manag Epidemiol. 2023. PMID: 36923210 Free PMC article.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Among authors: borell s. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy.
McDonald CM, Meier T, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Spagnolo P, Buyse GM; DELOS Study Group. McDonald CM, et al. Neuromuscul Disord. 2016 Aug;26(8):473-80. doi: 10.1016/j.nmd.2016.05.008. Epub 2016 May 12. Neuromuscul Disord. 2016. PMID: 27238057 Free article. Clinical Trial.
Personal cooling with dry ice.
Konz S, Hwang C, Perkins R, Borell S. Konz S, et al. Among authors: borell s. Am Ind Hyg Assoc J. 1974 Mar;35(3):137-47. doi: 10.1080/0002889748507015. Am Ind Hyg Assoc J. 1974. PMID: 4821302 No abstract available.
13 results