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98 results

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Page 1
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.
English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases.
Vuillerot C, Meilleur KG, Jain M, Waite M, Wu T, Linton M, Datsgir J, Donkervoort S, Leach ME, Rutkowski A, Rippert P, Payan C, Iwaz J, Hamroun D, Bérard C, Poirot I, Bönnemann CG. Vuillerot C, et al. Arch Phys Med Rehabil. 2014 Nov;95(11):2064-2070.e1. doi: 10.1016/j.apmr.2014.05.003. Epub 2014 May 24. Arch Phys Med Rehabil. 2014. PMID: 24862765 Free PMC article.
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Nichols C, Jain MS, Meilleur KG, Wu T, Collins J, Waite MR, Dastgir J, Salman A, Donkervoort S, Duong T, Keller K, Leach ME, Lott DJ, McGuire MN, Nelson L, Rutkowski A, Vuillerot C, Bönnemann CG, Lehky TJ. Nichols C, et al. Among authors: vuillerot c. Muscle Nerve. 2018 Jan;57(1):54-60. doi: 10.1002/mus.25629. Epub 2017 Apr 25. Muscle Nerve. 2018. PMID: 28224647 Free PMC article.
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L, Nichols C, Hartnett E, Averion GM, Collins JC, Kim ES, Kokkinis A, Schindler A, Zukosky K, Fee R, Hinton V, Mohassel P, Bharucha-Goebel D, Vuillerot C, McGraw P, Barton M, Fontana J, Rutkowski A, Foley AR, Bönnemann CG. Jain MS, et al. Among authors: vuillerot c. Neurology. 2019 Nov 19;93(21):e1932-e1943. doi: 10.1212/WNL.0000000000008517. Epub 2019 Oct 25. Neurology. 2019. PMID: 31653707 Free PMC article.
Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy.
Le Goff L, Meilleur KG, Norato G, Rippert P, Jain M, Fink M, Foley AR, Waite M, Donkervoort S, Bönnemann CG, Vuillerot C. Le Goff L, et al. Among authors: vuillerot c. Arch Phys Med Rehabil. 2021 Apr;102(4):604-610. doi: 10.1016/j.apmr.2020.10.116. Epub 2020 Nov 6. Arch Phys Med Rehabil. 2021. PMID: 33166523 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.
Correction to: 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):2547-2549. doi: 10.1007/s00415-023-11658-6. J Neurol. 2023. PMID: 37071150 Free PMC article. No abstract available.
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy.
Vuillerot C, Rippert P, Kinet V, Renders A, Jain M, Waite M, Glanzman AM, Girardot F, Hamroun D, Iwaz J, Ecochard R, Quijano-Roy S, Bérard C, Poirot I, Bönnemann CG; CDM MFM Study Group. Vuillerot C, et al. Arch Phys Med Rehabil. 2014 Nov;95(11):2086-95. doi: 10.1016/j.apmr.2014.06.005. Epub 2014 Jun 25. Arch Phys Med Rehabil. 2014. PMID: 24973498 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: vuillerot c. Neurology. 2018 Oct 2;91(14):e1312-e1318. doi: 10.1212/WNL.0000000000006281. Epub 2018 Aug 29. Neurology. 2018. PMID: 30158155 Clinical Trial.
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.
Annoussamy M, Seferian AM, Daron A, Péréon Y, Cances C, Vuillerot C, De Waele L, Laugel V, Schara U, Gidaro T, Lilien C, Hogrel JY, Carlier P, Fournier E, Lowes L, Gorni K, Ly-Le Moal M, Hellbach N, Seabrook T, Czech C, Hermosilla R, Servais L; NatHis-SMA study group. Annoussamy M, et al. Among authors: vuillerot c. Ann Clin Transl Neurol. 2021 Feb;8(2):359-373. doi: 10.1002/acn3.51281. Epub 2020 Dec 24. Ann Clin Transl Neurol. 2021. PMID: 33369268 Free PMC article.
98 results