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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.
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.
Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests.
Nuñez-Peralta C, Montesinos P, Alonso-Jiménez A, Alonso-Pérez J, Reyes-Leiva D, Sánchez-González J, Llauger-Roselló J, Segovia S, Belmonte I, Pedrosa I, Martínez-Noguera A, Matellini-Mosca B, Walter G, Díaz-Manera J. Nuñez-Peralta C, et al. Among authors: segovia s. Front Neurol. 2021 Mar 16;12:634766. doi: 10.3389/fneur.2021.634766. eCollection 2021. Front Neurol. 2021. PMID: 33796064 Free PMC article.
Corrigendum: Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests.
Nuñez-Peralta C, Montesinos P, Alonso-Jiménez A, Alonso-Pérez J, Reyes-Leiva D, Sánchez-González J, Llauger-Roselló J, Segovia S, Belmonte I, Pedrosa I, Martínez-Noguera A, Matellini-Mosca B, Walter G, Díaz-Manera J. Nuñez-Peralta C, et al. Among authors: segovia s. Front Neurol. 2021 Jul 13;12:727020. doi: 10.3389/fneur.2021.727020. eCollection 2021. Front Neurol. 2021. PMID: 34326809 Free PMC article.
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Suárez-Cuartín G, Gallardo E, Illa I, Díaz-Manera J; Spanish Pompe Study Group. Figueroa-Bonaparte S, et al. Among authors: segovia s. PLoS One. 2016 Oct 6;11(10):e0163493. doi: 10.1371/journal.pone.0163493. eCollection 2016. PLoS One. 2016. PMID: 27711114 Free PMC article.
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.
Alonso-Jiménez A, Fernández-Simón E, Natera-de Benito D, Ortez C, García C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Piñol-Jurado P, Carrasco-Rozas A, Suárez-Calvet X, Jimenez-Mallebrera C, Nascimento A, Llauger J, Nuñez-Peralta C, Montesinos P, Alonso-Pérez J, Gallardo E, Illa I, Díaz-Manera J. Alonso-Jiménez A, et al. Among authors: segovia s. Front Neurol. 2021 Jun 11;12:659922. doi: 10.3389/fneur.2021.659922. eCollection 2021. Front Neurol. 2021. PMID: 34177765 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.
134 results