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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: casquero p. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers.
Vilas D, Ispierto L, Álvarez R, Pont-Sunyer C, Martí MJ, Valldeoriola F, Compta Y, de Fabregues O, Hernández-Vara J, Puente V, Calopa M, Jaumà S, Campdelacreu J, Aguilar M, Quílez P, Casquero P, Lomeña F, Ríos J, Tolosa E. Vilas D, et al. Among authors: casquero p. Parkinsonism Relat Disord. 2015 Oct;21(10):1170-6. doi: 10.1016/j.parkreldis.2015.08.007. Epub 2015 Aug 12. Parkinsonism Relat Disord. 2015. PMID: 26306001
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).
Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S, Martinez-Piñeiro A, Mateo-Montero RC, Ispierto L, Vilas D, Tolosa E, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A. Corral-Juan M, et al. Among authors: casquero p. Brain Commun. 2022 Feb 10;4(2):fcac030. doi: 10.1093/braincomms/fcac030. eCollection 2022. Brain Commun. 2022. PMID: 35310830 Free PMC article.
Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers.
Pont-Sunyer C, Iranzo A, Gaig C, Fernández-Arcos A, Vilas D, Valldeoriola F, Compta Y, Fernández-Santiago R, Fernández M, Bayés A, Calopa M, Casquero P, de Fàbregues O, Jaumà S, Puente V, Salamero M, José Martí M, Santamaría J, Tolosa E. Pont-Sunyer C, et al. Among authors: casquero p. PLoS One. 2015 Jul 15;10(7):e0132368. doi: 10.1371/journal.pone.0132368. eCollection 2015. PLoS One. 2015. PMID: 26177462 Free PMC article.
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