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Page 1
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol VD, Darras BT, Abulaban AA, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien YH, Farrar MA, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon FB, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin JH, Vázquez-Costa JF, Walter MC, Wanigasinghe J, Xiong H, Griggs RC, Roy B. Armengol VD, et al. Among authors: quijano roy s. Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15. Neurol Clin Pract. 2024. PMID: 38107546
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
Proud CM, Mercuri E, Finkel RS, Kirschner J, De Vivo DC, Muntoni F, Saito K, Tizzano EF, Desguerre I, Quijano-Roy S, Benguerba K, Raju D, Faulkner E, Servais L. Proud CM, et al. Among authors: quijano roy s. Ann Clin Transl Neurol. 2023 Nov;10(11):2155-2160. doi: 10.1002/acn3.51889. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2023. PMID: 37691296 Free PMC article.
Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1.
Boursange S, Araneda M, Stalens C, Desguerre I, Barnerias C, Nougues MC, Isapof A, Quijano-Roy S, Blu Genestine N, Ouillade L, Martinez Jalilie M, Castiglioni C, Boespflug-Tanguy O, Gargiulo M; SMAPAR Study Group. Boursange S, et al. Front Pediatr. 2022 Dec 21;10:1062390. doi: 10.3389/fped.2022.1062390. eCollection 2022. Front Pediatr. 2022. PMID: 36619514 Free PMC article.
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.
Cesar S, Campuzano O, Cruzalegui J, Fiol V, Moll I, Martínez-Barrios E, Zschaeck I, Natera-de Benito D, Ortez C, Carrera L, Expósito J, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada J, Nascimento A, Sarquella-Brugada G. Cesar S, et al. Among authors: quijano roy s. Front Cell Dev Biol. 2023 Mar 10;11:1142937. doi: 10.3389/fcell.2023.1142937. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36968203 Free PMC article.
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy.
Barrois R, Barnerias C, Deladrière E, Leloup-Germa V, Tervil B, Audic F, Boulay C, Cances C, Cintas P, Davion JB, Espil-Taris C, Manel V, Pereon Y, Piarroux J, Quijano Roy S, Vuillerot C, Walther-Louvier U, Desguerre I, Gitiaux C. Barrois R, et al. Neuromuscul Disord. 2023 Apr;33(4):309-314. doi: 10.1016/j.nmd.2023.02.004. Epub 2023 Feb 11. Neuromuscul Disord. 2023. PMID: 36881951
Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study.
Gaume M, Njiki J, Vaugier I, Orliaguet G, Verollet D, Glorion C, Essid A, Mbieleu B, Zini J, Fayssoile A, Quijano-Roy S, Desguerre I, Miladi L, Bergounioux J. Gaume M, et al. Arch Orthop Trauma Surg. 2023 Aug;143(8):4605-4612. doi: 10.1007/s00402-022-04727-4. Epub 2022 Dec 19. Arch Orthop Trauma Surg. 2023. PMID: 36534211
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: quijano roy s. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
Germani S, Van Ho AT, Cherubini A, Varone E, Chernorudskiy A, Renna GM, Fumagalli S, Gobbi M, Lucchetti J, Bolis M, Guarrera L, Craparotta I, Rastelli G, Piccoli G, de Napoli C, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Calì T, Quijano-Roy S, Boncompagni S, Blaauw B, Ferreiro A, Zito E. Germani S, et al. Among authors: quijano roy s. Cell Rep Med. 2024 Mar 19;5(3):101439. doi: 10.1016/j.xcrm.2024.101439. Epub 2024 Feb 22. Cell Rep Med. 2024. PMID: 38402623 Free PMC article.
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. Smeets H, et al. Neuromuscul Disord. 2024 Mar;36:16-22. doi: 10.1016/j.nmd.2024.01.001. Epub 2024 Jan 9. Neuromuscul Disord. 2024. PMID: 38306718
148 results