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Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Wood L, et al. Among authors: segovia s. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Orphanet J Rare Dis. 2018. PMID: 30185236 Free PMC article.
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Díaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Wood L, et al. Among authors: segovia s. Orphanet J Rare Dis. 2019 Aug 15;14(1):199. doi: 10.1186/s13023-019-1157-7. Orphanet J Rare Dis. 2019. PMID: 31416449 Free PMC article.
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.
van Kooten HA, Horton MC, Wenninger S, Babačić H, Schoser B, Lefeuvre C, Taouagh N, Laforêt P, Segovia S, Díaz-Manera J, Claeys KG, Mongini T, Musumeci O, Toscano A, Hundsberger T, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME; European Pompe Consortium study group on outcome measures. van Kooten HA, et al. Among authors: segovia s. Eur J Neurol. 2024 Dec;31(12):e16397. doi: 10.1111/ene.16397. Epub 2024 Aug 28. Eur J Neurol. 2024. PMID: 39205420 Free PMC article.
Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients.
Reyes-Leiva D, Alonso-Pérez J, Mayos M, Nuñez-Peralta C, Llauger J, Belmonte I, Pedrosa-Hernández I, Segovia S, Díaz-Manera J. Reyes-Leiva D, et al. Among authors: segovia s. Front Neurol. 2021 Mar 1;12:621257. doi: 10.3389/fneur.2021.621257. eCollection 2021. Front Neurol. 2021. PMID: 33732206 Free PMC article.
Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.
Alonso-Jiménez A, Nuñez-Peralta C, Montesinos P, Alonso-Pérez J, García C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Llauger J, Díaz-Manera J. Alonso-Jiménez A, et al. Among authors: segovia s. Front Neurol. 2021 Jul 8;12:675781. doi: 10.3389/fneur.2021.675781. eCollection 2021. Front Neurol. 2021. PMID: 34305788 Free PMC article.
PDGF-BB serum levels are decreased in adult onset Pompe patients.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, Montiel E, Suárez-Calvet X, Alonso-Pérez J, Segovia S, Nuñez-Peralta C, Llauger J, Mayos M, Illa I; Spanish Pompe Study Group; Díaz-Manera J. Fernández-Simón E, et al. Among authors: segovia s. Sci Rep. 2019 Feb 14;9(1):2139. doi: 10.1038/s41598-018-38025-0. Sci Rep. 2019. PMID: 30765719 Free PMC article.
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.
Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: segovia s. Med Clin (Barc). 2020 Feb 14;154(3):80-85. doi: 10.1016/j.medcli.2019.03.036. Epub 2019 Jun 26. Med Clin (Barc). 2020. PMID: 31253477 English, Spanish.
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
Nuñez-Peralta C, Alonso-Pérez J, Llauger J, Segovia S, Montesinos P, Belmonte I, Pedrosa I, Montiel E, Alonso-Jiménez A, Sánchez-González J, Martínez-Noguera A, Illa I, Díaz-Manera J. Nuñez-Peralta C, et al. Among authors: segovia s. J Cachexia Sarcopenia Muscle. 2020 Aug;11(4):1032-1046. doi: 10.1002/jcsm.12555. Epub 2020 Mar 4. J Cachexia Sarcopenia Muscle. 2020. PMID: 32129012 Free PMC article.
134 results