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Page 1
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.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: vuillerot c. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E; SUNFISH Working Group. Oskoui M, et al. Among authors: vuillerot c. J Neurol. 2023 May;270(5):2531-2546. doi: 10.1007/s00415-023-11560-1. Epub 2023 Feb 3. J Neurol. 2023. PMID: 36735057 Free PMC article. Clinical Trial.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Among authors: vuillerot c. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment.
Mercuri E, Baranello G, Boespflug-Tanguy O, De Waele L, Goemans N, Kirschner J, Masson R, Mazzone ES, Pechmann A, Pera MC, Vuillerot C, Bader-Weder S, Gerber M, Gorni K, Hoffart J, Kletzl H, Martin C, McIver T, Scalco RS, Yeung WY, Servais L; SUNFISH Working Group. Mercuri E, et al. Among authors: vuillerot c. Eur J Neurol. 2023 Jul;30(7):1945-1956. doi: 10.1111/ene.15499. Epub 2022 Aug 1. Eur J Neurol. 2023. PMID: 35837793 Clinical Trial.
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F; JEWELFISH Study Group. Chiriboga CA, et al. Neurol Ther. 2023 Apr;12(2):543-557. doi: 10.1007/s40120-023-00444-1. Epub 2023 Feb 13. Neurol Ther. 2023. PMID: 36780114 Free PMC article.
[Long term outcome of perinatal stroke].
Vuillerot C, Marret S, Dinomais M. Vuillerot C, et al. Arch Pediatr. 2017 Sep;24(9S):9S51-9S60. doi: 10.1016/S0929-693X(17)30332-9. Arch Pediatr. 2017. PMID: 28867039 Review. French.
Spinal muscular atrophy is also a disorder of spermatogenesis.
Magot A, Reignier A, Binois O, Bedat-Millet AL, Davion JB, Debergé L, Ghorab K, Guyant L, Laheranne É, Laforet P, Lefeuvre C, Mallaret M, Michaud M, Omar C, Nadaj-Pakleza A, Nicolas G, Noury JB, Pegat A, Péré M, Salort-Campana E, Sole G, Spinazzi M, Tard C, Vuillerot C, Péréon Y. Magot A, et al. Among authors: vuillerot c. Orphanet J Rare Dis. 2024 Dec 20;19(1):476. doi: 10.1186/s13023-024-03494-2. Orphanet J Rare Dis. 2024. PMID: 39707482 Free PMC article.
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.
Grimaldi L, Garcia-Uzquiano R, de la Banda MG, Oulhissane-Omar A, Tard C, Saugier-Veber P, Laugel V, Desguerre I, Cintas P, Vuillerot C, Audic F, Cances C, Stojkovic T, Urtizberea JA, Attarian S, Ropars J, Quijano-Roy S; Registre SMA France Study Group. Grimaldi L, et al. Among authors: vuillerot c. J Neuromuscul Dis. 2025 Jul 8:22143602251353446. doi: 10.1177/22143602251353446. Online ahead of print. J Neuromuscul Dis. 2025. PMID: 40625130 Free article.
Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint.
Servais L, Strijbos P, Poleur M, Mirea A, Butoianu N, Sansone VA, Vuillerot C, Schara-Schmidt U, Scoto M, Seferian AM, Previtali SC, Tulinius M, Nascimento A, Furlong P, Singh T, Dreghici RD, Goemans N, Mercuri E, Straub V, Ormazabal MG, Braid J, Muntoni F, Tricot A, Annoussamy M, Eggenspieler D. Servais L, et al. Among authors: vuillerot c. Sci Rep. 2024 Nov 29;14(1):29681. doi: 10.1038/s41598-024-80177-9. Sci Rep. 2024. PMID: 39613806 Free PMC article.
110 results