Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families von González‐Mera, L., Ravenscroft, G., Cabrera‐Serrano, M., Ermolova, N., Domínguez‐González, C., Arteche‐López, A., Soltanzadeh, P., Evesson, F., Navas, C., Mavillard, F., Clayton, J., Rodrigo, P., Servián‐Morilla, E., Cooper, S. T, Waddell, L., Reardon, K., Corbett, A., Hernandez‐Laín, A., Sanchez, A., Esteban Perez, J., Paradas‐Lopez, C., Rivas‐Infante, E., Spencer, M., Laing, N., Olivé, M.

Volltext

Sporadic late-onset nemaline myopathy in an aged patient von Morgado Linares, R, Rivas Infante, E, Avila Polo, R, Paradas Lopez, C

Volltext

Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies von Lebrato-Hernandez, L, Rivas-Infante, E, Cortes-Rodriguez, A, Carbonell-Corvillo, P, Villareal-Perez, L, Marquez-Infante, C, Rojas-Marcos, I, Martinez-Fernandez, E, Carvajal-Hernandez, A, Cascajo-Almenara, M, Martin-Casanueva, M, Rodriguez-Aguilera, J, Paradas-Lopez, C

Volltext

20730. EXPLORANDO LA EVOLUCIÓN CLÍNICA DEL SÍNDROME DE ATAXIA CEREBELOSA, NEUROPATÍA SENSITIVA Y ARREFLEXIA VESTIBULAR (CANVAS): UN ANÁLISIS RETROSPECTIVO von Ruiz Infantes, M., Gómez Fernández, F., Rojas-Marcos, I., Adarmes- Gómez, A., Paradas-López, C.

Volltext

21660. NEMALINAS EN UN CASO DE DERMATOMIOSITIS REFRACTARIA A TRATAMIENTO INMUNOSUPRESOR CRÓNICO COMO HALLAZGO INESPERADO von Luque Ambrosiani, A., Rivas Infante, E., Gómez Fernández, F., Rojas-Marcos Rodríguez-Quesada, I., Cabrera Serrano, M., Paradas López, C.

Volltext

A novel mutation in collagen VI as a cause for inter-generational and intra-generational phenotypic heterogeneity in myopathies related to collagen-VI von Mendez del Barrio, C, Servian Morillo, E, Carbonell Corvillo, P, Villarreal, L, Rivas, E, Paradas López, C

Volltext

Dystroglycanopathy: Description of the first patient cohort in Spain von Adarmes Gómez, A, Servián Morilla, E, Rivas Infante, E, Muñoz Cabello, B, Carbonell Corvillo, P, Villarreal Pérez, L, Martínez Fernández, E, Fernández Ramos, J, Arrabal Fernández, L, Ley Martos, M, Márquez Infante, C, Madruga Garrido, M, Paradas López, C

Volltext

A novel MYH7 mutation causing the Laing distal myopathy in Andalucia von Carbonell Corvillo, P, Servián-Morilla, E, Tristán Clavijo, E, Gil-Gálvez, A, García Martín, G, Rivas Infante, E, Villarreal Pérez, L, Márquez Infante, C, Chamorro Muñoz, M, Cabrera Serrano, M, Miranda-Vizuete, A, Martínez Mir, A, Paradas López, C

Volltext

P.213 - Sporadic late-onset nemaline myopathy in an aged patient von Morgado Linares, R., Rivas Infante, E., Avila Polo, R., Paradas Lopez, C.

Volltext

Factors Determining Response to Pyridostigmine or Steroid Treatment in Myasthenia Gravis (P04.096) von Cabrera Serrano, M., Morgado, Y., Benitez, S., Paradas Lopez, C.

Volltext

P.307 - Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies von Lebrato-Hernandez, L., Rivas-Infante, E., Cortes-Rodriguez, A., Carbonell-Corvillo, P., Villareal-Perez, L., Marquez-Infante, C., Rojas-Marcos, I., Martinez-Fernandez, E., Carvajal-Hernandez, A., Cascajo-Almenara, M., Martin-Casanueva, M., Rodriguez-Aguilera, J., Paradas-Lopez, C.

Volltext

Neuromuscular Involvement in Choreoacanthocytosis (P07.204) von Paradas Lopez, C., Cabrera Serrano, M., Rivas Infante, E., Morales, J. M., Marquez, C., Bader, B., Mir, P.

Volltext

P.343 - A novel mutation in collagen VI as a cause for inter-generational and intra-generational phenotypic heterogeneity in myopathies related to collagen-VI von Mendez del Barrio, C., Servian Morillo, E., Carbonell Corvillo, P., Villarreal, L., Rivas, E., Paradas López, C.

Volltext

P.287 - A novel MYH7 mutation causing the Laing distal myopathy in Andalucia von Carbonell Corvillo, P., Servián-Morilla, E., Tristán Clavijo, E., Gil-Gálvez, A., García Martín, G., Rivas Infante, E., Villarreal Pérez, L., Márquez Infante, C., Chamorro Muñoz, M., Cabrera Serrano, M., Miranda-Vizuete, A., Martínez Mir, A., Paradas López, C.

Volltext

P.250 - Dystroglycanopathy: Description of the first patient cohort in Spain von Adarmes Gómez, A., Servián Morilla, E., Rivas Infante, E., Muñoz Cabello, B., Carbonell Corvillo, P., Villarreal Pérez, L., Martínez Fernández, E., Fernández Ramos, J., Arrabal Fernández, L., Ley Martos, M., Márquez Infante, C., Madruga Garrido, M., Paradas López, C.

Volltext

International Nosocomial Infection Control Consortium report, data summary of 50 countries for 2010-2015: Device-associated module von Rosenthal, Víctor Daniel, MD, MSc, CIC, Al-Abdely, Hail M., MD, El-Kholy, Amani Ali, MD, AlKhawaja, Safa A Aziz, MD, Leblebicioglu, Hakan, MD, Mehta, Yatin, MD, Rai, Vineya, MD, Hung, Nguyen Viet, MD, Kanj, Souha Sami, MD, Salama, Mona Foda, MD, Salgado-Yepez, Estuardo, MD, Elahi, Naheed, MD, Morfin Otero, Rayo, MD, Apisarnthanarak, Anucha, MD, De Carvalho, Braulio Matias, MD, Ider, Bat Erdene, Fisher, Dale, MD, Buenaflor, Maria Carmen S.G., MD, Petrov, Michael M., MD, Quesada-Mora, Ana Marcela, MD, Zand, Farid, MD, Gurskis, Vaidotas, MD, Anguseva, Tanja, MD, Ikram, Aamer, MD, Aguilar de Moros, Daisy, MD, Duszynska, Wieslawa, MD, Mejia, Nepomuceno, MD, Horhat, Florin George, MD, Belskiy, Vladislav, MD, Mioljevic, Vesna, MD, Di Silvestre, Gabriela, MD, Furova, Katarina, MD, Ramos-Ortiz, Gloria Y., MD, Gamar Elanbya, May Osman, MD, Satari, Hindra Irawan, MD, Gupta, Umesh, MD, Dendane, Tarek, MD, Raka, Lul, MD, Guanche-Garcell, Humberto, MD, Hu, Bijie, MD, Padgett, Denis, MD, Jayatilleke, Kushlani, MD, Ben Jaballah, Najla, MD, Apostolopoulou, Eleni, MD, Prudencio Leon, Walter Enrique, MD, Sepulveda-Chavez, Alejandra, MD, Telechea, Hector Miguel, MD, Trotter, Andrew, MD, Alvarez-Moreno, Carlos, MD, Kushner-Davalos, Luis, MD

Volltext

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss von Servián‐Morilla, Emilia, Takeuchi, Hideyuki, Lee, Tom V, Clarimon, Jordi, Mavillard, Fabiola, Area‐Gómez, Estela, Rivas, Eloy, Nieto‐González, Jose L, Rivero, Maria C, Cabrera‐Serrano, Macarena, Gómez‐Sánchez, Leonardo, Martínez‐López, Jose A, Estrada, Beatriz, Márquez, Celedonio, Morgado, Yolanda, Suárez‐Calvet, Xavier, Pita, Guillermo, Bigot, Anne, Gallardo, Eduard, Fernández‐Chacón, Rafael, Hirano, Michio, Haltiwanger, Robert S, Jafar‐Nejad, Hamed, Paradas, Carmen

Volltext

Kiwicha ( L.) protein hydrolysates reduce intestinal inflammation by modulating the NLRP3 inflammasome pathway von Martinez-Lopez, Alicia, Rivero-Pino, Fernando, Villanueva, Alvaro, Toscano, Rocio, Grao-Cruces, Elena, Marquez-Paradas, Elvira, Martin, Maria E, Montserrat-de la Paz, Sergio, Millan-Linares, Maria C

Volltext

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry von Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, Díaz-Manera, Jordi

Volltext

MITOCHONDRIAL DISEASES II (Oral) von Hirano, M., Lopez-Garcia, C., Rosales, X., Engelstad, K., Uddin, J., Dominguez, C., Paradas, C., Marti, R., Garone, C.

Volltext