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2013 1
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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: ramos fransi a. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Cortés-Vicente E, Álvarez-Velasco R, Pla-Junca F, Rojas-Garcia R, Paradas C, Sevilla T, Casasnovas C, Gómez-Caravaca MT, Pardo J, Ramos-Fransi A, Pelayo-Negro AL, Gutiérrez-Gutiérrez G, Turon-Sans J, López de Munain A, Guerrero-Sola A, Jericó I, Martín MA, Mendoza MD, Morís G, Vélez-Gómez B, Garcia-Sobrino T, Pascual-Goñi E, Reyes-Leiva D, Illa I, Gallardo E. Cortés-Vicente E, et al. Among authors: ramos fransi a. Ann Clin Transl Neurol. 2022 Feb;9(2):122-131. doi: 10.1002/acn3.51492. Epub 2022 Jan 26. Ann Clin Transl Neurol. 2022. PMID: 35080153 Free PMC article.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: ramos fransi a. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
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: ramos fransi a. 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 characteristics and outcomes of thymoma-associated myasthenia gravis.
Álvarez-Velasco R, Gutiérrez-Gutiérrez G, Trujillo JC, Martínez E, Segovia S, Arribas-Velasco M, Fernández G, Paradas C, Vélez-Gómez B, Casasnovas C, Nedkova V, Guerrero-Sola A, Ramos-Fransi A, Martínez-Piñeiro A, Pardo J, Sevilla T, Gómez-Caravaca MT, López de Munain A, Jericó I, Pelayo-Negro AL, Martín MA, Morgado Y, Mendoza MD, Pérez-Pérez H, Rojas-García R, Turon-Sans J, Querol L, Gallardo E, Illa I, Cortés-Vicente E. Álvarez-Velasco R, et al. Among authors: ramos fransi a. Eur J Neurol. 2021 Jun;28(6):2083-2091. doi: 10.1111/ene.14820. Epub 2021 Mar 30. Eur J Neurol. 2021. PMID: 33721382
Myotilinopathy unmasked by statin treatment: A case report.
Ramos-Fransi A, Martínez-Piñeiro A, Almendrote M, Lucente G, Carrato C, Ballester-Lopez A, Lucia A, Pintos-Morell G, Nogales-Gadea G, Coll-Cantí J. Ramos-Fransi A, et al. Muscle Nerve. 2018 Jun;57(6):E138-E140. doi: 10.1002/mus.26078. Epub 2018 Feb 2. Muscle Nerve. 2018. PMID: 29350769 No abstract available.
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J, Ballester-Lopez A, Koehorst E, Linares-Pardo I, Coenen D, Ara I, Rodriguez-Lopez C, Ramos-Fransi A, Martínez-Piñeiro A, Lucente G, Almendrote M, Coll-Cantí J, Pintos-Morell G, Santos-Lozano A, Arenas J, Martín MA, de Castro M, Lucia A, Santalla A, Nogales-Gadea G. Núñez-Manchón J, et al. Among authors: ramos fransi a. J Inherit Metab Dis. 2018 Nov;41(6):1027-1035. doi: 10.1007/s10545-018-0203-2. Epub 2018 Jun 20. J Inherit Metab Dis. 2018. PMID: 29926259
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Ballester-Lopez A, Koehorst E, Almendrote M, Martínez-Piñeiro A, Lucente G, Linares-Pardo I, Núñez-Manchón J, Guanyabens N, Cano A, Lucia A, Overend G, Cumming SA, Monckton DG, Casadevall T, Isern I, Sánchez-Ojanguren J, Planas A, Rodríguez-Palmero A, Monlleó-Neila L, Pintos-Morell G, Ramos-Fransi A, Coll-Cantí J, Nogales-Gadea G. Ballester-Lopez A, et al. Among authors: ramos fransi a. Hum Mutat. 2020 Feb;41(2):420-431. doi: 10.1002/humu.23932. Epub 2019 Nov 4. Hum Mutat. 2020. PMID: 31608518
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.
Koehorst E, Odria R, Capó J, Núñez-Manchón J, Arbex A, Almendrote M, Linares-Pardo I, Natera-de Benito D, Saez V, Nascimento A, Ortez C, Rubio MÁ, Díaz-Manera J, Alonso-Pérez J, Lucente G, Rodriguez-Palmero A, Ramos-Fransi A, Martínez-Piñeiro A, Nogales-Gadea G, Suelves M. Koehorst E, et al. Among authors: ramos fransi a. Biomedicines. 2022 Jun 10;10(6):1372. doi: 10.3390/biomedicines10061372. Biomedicines. 2022. PMID: 35740394 Free PMC article.
25 results