Search Results - "Diaz‐Manera, J."

Long-lasting treatment effect of rituximab in MuSK myasthenia by DIAZ-MANERA, J, MARTINEZ-HERNANDEZ, E, JUAREZ, C, VERSCHUUREN, J. J, ILLA, I, QUEROL, L, KLOOSTER, R, ROJAS-GARCIA, R, SUAREZ-CALVET, X, MUNOZ-BLANCO, J. L, MAZIA, C, STRAASHEIJM, K. R, GALLARDO, E

“…Rituximab has emerged as an efficacious option for drug-resistant myasthenia gravis (MG). However, reports published only describe the short-term follow-up of…”
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Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging by Giacomucci, G., Monforte, M., Diaz‐Manera, J., Mul, K., Fernandez Torrón, R., Maggi, L., Marini Bettolo, C., Dahlqvist, J. R., Haberlova, J., Camaño, P., Gros, M., Tartaglione, T., Cristiano, L., Gerevini, S., Calandra, P., Deidda, G., Giardina, E., Sacconi, S., Straub, V., Vissing, J., Van Engelen, B., Ricci, E., Tasca, G.

“…Background and purpose The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to…”
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Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome by Alonso‐Jiménez, A., Ramón, C., Dols‐Icardo, O., Roig, C., Gallardo, E., Clarimón, J., Núñez‐Peralta, C., Díaz‐Manera, J.

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Phenotypic correlations in a large single‐center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study by Fernández‐Eulate, G., Fernández‐Torrón, R., Guisasola, A., Gaspar, M. T. I., Diaz‐Manera, J., Maneiro, M., Zulaica, M., Olasagasti, V., Formica, A. F., Espinal, J. B., Ruiz, M., Schlüter, A., Pujol, A., Poza, J. J., López de Munain, A.

“…Background and purpose BSCL2 heterozygote mutations are a common cause of distal hereditary motor neuropathies (dHMNs). A series of BSCL2 patients is presented…”
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Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy by Díaz-Manera, J, Touvier, T, Dellavalle, A, Tonlorenzi, R, Tedesco, F S, Messina, G, Meregalli, M, Navarro, C, Perani, L, Bonfanti, C, Illa, I, Torrente, Y, Cossu, G

“…Dysferlin deficiency leads to a peculiar form of muscular dystrophy due to a defect in sarcolemma repair and currently lacks a therapy. We developed a cell…”
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Unique post-exercise electrophysiological test results in a new Andersen–Tawil syndrome mutation by Díaz-Manera, J, Querol, L, Clarimón, J, Yagüe, S, Illa, I

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Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies by PARADAS, C, LLAUGER, J, ILLA, I, DIAZ-MANERA, J, ROJAS-GARCIA, R, DE LUNA, N, ITURRIAGA, C, MARQUEZ, C, USON, M, HANKIEWICZ, K, GALLARDO, E

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Axial involvement as a prominent feature in SMPX-related distal myopathy by Salman, D., Bolano-Diaz, C., Muni-Lofra, R., Wong, K., Elseed, M., Harris, E, Diaz-Manera, J., Guglieri, M., Marini-Bettolo, C., Straub, V., Tasca, G.

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Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale by Kooten, Harmke A., Horton, Mike C., Wenninger, Stephan, Babačić, Haris, Schoser, Benedikt, Lefeuvre, Claire, Taouagh, Najib, Laforêt, Pascal, Segovia, Sonia, Díaz‐Manera, Jordi, Claeys, Kristl G., Mongini, Tiziana, Musumeci, Olimpia, Toscano, Antonio, Hundsberger, Thomas, Brusse, Esther, Doorn, Pieter A., Ploeg, Ans T., Beek, Nadine A. M. E., Kooten, H. A, Brusse, E., Doorn, P. A, Ploeg, A. T., Beek, N. A. M. E., Wenninger, S., Babačić, H., Schoser, B., Montagnese, F., Gracia Angarita, N., Lefeuvre, C., Taouagh, N., Laforêt, P., Béhin, A., Tard, C., Campana‐Salort, E., Sacconi, S., Solé, G., Spinazzi, M., Bouhour, F., Bouibede, F., Hamroun, D., Hogrel, J. Y., Segovia, S., Díaz‐Manera, J., Claeys, K.G., Mongini, T., Musumeci, O., Toscano, A., Hundsberger, T., Horton, M. C.

“…Background and purpose The Rasch‐Built Pompe‐Specific Activity (R‐PAct) scale is a patient‐reported outcome measure specifically designed to quantify the…”
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Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies by Paradas, C, Llauger, J, Diaz-Manera, J, Rojas-García, R, De Luna, N, Iturriaga, C, Márquez, C, Usón, M, Hankiewicz, K, Gallardo, E, Illa, I

“…The most frequent phenotypes of dysferlin myopathy are limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy (MM). Our objective was to find clinical…”
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1st FSHD European Trial Network workshop:Working towards trial readiness across Europe by Voermans, N.C., Vriens-Munoz Bravo, M., Padberg, G.W., Laforêt, P., van Alfen, N., Attarian, S., Badrising, U.A., Bugiardini, E., González, P. Camano, Carlier, R.Y., Desguerre, I., Diaz-Manera, J., Dumonceaux, J., van Engelen, B.G., Evangelista, T., Khosla, S., de Munain, A. López, van der Maarel, S.M., Mejat, A., Monforte, M., Montagnese, F., Mul, K., Oflazer, P., Porter, B., Quijano-Roy, S., Ricci, E., Sacconi, S., Sansone, V.A., Schoser, B., Statland, J., Stumpe, E., Tasca, G., Tawil, R., Turner, C., Vissing, J.

“…•The FSHD European Trial Network (FSHD ETN) will have an open membership.•There will be four working groups (WG) on clinical and genetic diagnosis (WG 1),…”
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Molecular characterization of congenital myasthenic syndromes in Spain by Natera-de Benito, D., Töpf, A., Vilchez, J.J., González-Quereda, L., Domínguez-Carral, J., Díaz-Manera, J., Ortez, C., Bestué, M., Gallano, P., Dusl, M., Abicht, A., Müller, J.S., Senderek, J., García-Ribes, A., Muelas, N., Evangelista, T., Azuma, Y., McMacken, G., Paipa Merchan, A., Rodríguez Cruz, P.M., Camacho, A., Jiménez, E., Miranda-Herrero, M.C., Santana-Artiles, A., García-Campos, O., Dominguez-Rubio, R., Olivé, M., Colomer, J., Beeson, D., Lochmüller, H., Nascimento, A.

“…•Molecular genetic and clinical findings of 64 genetically confirmed CMS patients.•Overview on relative frequencies of different subtypes in Spanish…”
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Muscle MRI in neutral lipid storage disease (NLSD) by Garibaldi, M, Tasca, G, Diaz-Manera, J, Antonini, G, Pennisi, E

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Reasons for exclusion from thrombolytic therapy following acute ischemic stroke by COCHO, D, BELVIS, R, MARTI-FABREGAS, J, MOLINA-PORCEL, L, DIAZ-MANERA, J, ALEU, A, PAGONABARRAGA, J, GARCIA-BARGO, D, MAURI, A, MARTI-VILALTA, J-L

“…Despite evidence for the efficacy of thrombolytic therapy in acute ischemic stroke, only 1 to 7% of patients receive this therapy. The authors sought to…”
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Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene by Díaz-Manera, J., Alejaldre, A., Llauger, J., Mirabet, S., Rojas-García, R., Ramos-Fransi, A., Gallardo, E., Illa, I.

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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort by Gutiérrez-Rivas, E, Bautista, J, Vílchez, J.J, Muelas, N, Díaz-Manera, J, Illa, I, Martínez-Arroyo, A, Olivé, M, Sanz, I, Arpa, J, Fernández-Torrón, R, López de Munáin, A, Jiménez, L, Solera, J, Lukacs, Z

“…Highlights • Consider Pompe disease in patients with limb-girdle muscular dystrophy or hyperCKemia. • DBS should be used for screening; biochemical and genetic…”
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LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene by Gonzalez-Quereda, L, Gallano, P, Gallardo, E, Rodriguez, M, Lleixa, C, Straub, V, Topf, A, Diaz-Manera, J

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Favorable outcome of ischemic stroke in patients pretreated with statins by Martí-Fàbregas, Joan, Gomis, Meritxell, Arboix, Adrià, Aleu, Aitziber, Pagonabarraga, Javier, Belvís, Robert, Cocho, Dolores, Roquer, Jaume, Rodríguez, Ana, García, María Dolores, Molina-Porcel, Laura, Díaz-Manera, Jordi, Martí-Vilalta, Josep-Lluis

“…Statins may be beneficial for patients with acute ischemic stroke. We tested the hypothesis that patients pretreated with statins at the onset of stroke have…”
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Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy by Tiet, M., Fernandez-Torrón, R., Bourke, J., Bettinson, K., Harris, E., Hilsden, H., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz Manera, J., Pegoraro, E., Mendell, J.R., Bushby, K., Straub, V.

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Role of hypoxia in innate immunity activation in dermatomyositis by Gallardo, E, Suarez-Calvet, X, De Luna, N, Rojas-Garcia, R, Diaz-Manera, J, Illa, I

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