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Page 1
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. Among authors: castiglioni c. Front Pediatr. 2022 Dec 21;10:1062390. doi: 10.3389/fped.2022.1062390. eCollection 2022. Front Pediatr. 2022. PMID: 36619514 Free PMC article.
Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile.
Alvarez K, Suarez B, Palomino MA, Hervias C, Calcagno G, Martínez-Jalilie M, Lozano-Arango A, Lillo S, Haro M, Cortés F, Pantoja S, Chahin A, Orellana P, Bevilacqua JA, Bertini E, Castiglioni C. Alvarez K, et al. Among authors: castiglioni c. Arq Neuropsiquiatr. 2019 Jul 29;77(7):470-477. doi: 10.1590/0004-282X20190073. Arq Neuropsiquiatr. 2019. PMID: 31365638 Free article.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: castiglioni c. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. Ben Yaou R, et al. Among authors: castiglioni c. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. Brain Commun. 2021. PMID: 34240052 Free PMC article.
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: castiglioni c. Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15. Neurol Clin Pract. 2024. PMID: 38107546
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E. Dabaj I, et al. Among authors: castiglioni c. Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14. Muscle Nerve. 2018. PMID: 29624713
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart J, Cortes F, Hernando-Davalillo C, Montero R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S, Serrano M. Castiglioni C, et al. Hum Mutat. 2021 Feb;42(2):142-149. doi: 10.1002/humu.24151. Epub 2020 Dec 21. Hum Mutat. 2021. PMID: 33300232
Quality of life in children and adolescents with Spinal Muscular Atrophy.
Vega P, Glisser C, Castiglioni C, Amézquita MV, Quirola M, Barja S. Vega P, et al. Among authors: castiglioni c. Rev Chil Pediatr. 2020 Aug;91(4):512-520. doi: 10.32641/rchped.v91i4.1443. Epub 2020 Sep 11. Rev Chil Pediatr. 2020. PMID: 33399727 Free article. English, Spanish.
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY. Quijano-Roy S, et al. Among authors: castiglioni c. J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. J Neurol. 2022. PMID: 34559299
211 results