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Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression Monceau, Alexandra; Nath, Rasya Gokul; Suarez-Calvet, Xavier; Musumeci, Olimpia; Toscano, Antonio; Kierdaszuk, Biruta; Kostera-Pruszczyk, Anna; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Paradas, Carmen; Rivas, Eloy; Papadimas, George; Papadopoulos, Constantinos; Chrysanthou-Piterou, Margarita; Gallardo, Eduard; Olive, Montse; Lilleker, James; Roberts, Mark E.; Marchese, Domenica; Lunazzi, Giulia; Heyn, Holger; Fernandez-Simon, Esther; Villalobos, Elisa; Clark, James; Katsikis, Panos; Collins, Catherine; Mehra, Priyanka; Laidler, Zoe; Vincent, Amy; Tasca, Giorgio; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Raben, Nina; Diaz-Manera, Jordi 分享 收藏
Inflammatory bowel disease induces pathological α-synuclein aggregation in the human gut and brain Espinosa-Oliva, Ana M.; Ruiz, Rocio; Soto, Manuel Sarmiento; Boza-Serrano, Antonio; Rodriguez-Perez, Ana I.; Roca-Ceballos, Maria A.; Garcia-Revilla, Juan; Santiago, Marti; Serres, Sebastien; Economopoulus, Vasiliki; Carvajal, Ana E.; Vazquez-Carretero, Maria D.; Garcia-Miranda, Pablo; Klementieva, Oxana; Oliva-Martin, Maria J.; Deierborg, Tomas; Rivas, Eloy; Sibson, Nicola R.; Labandeira-Garcia, Jose L.; Machado, Alberto; Peral, Maria J.; Herrera, Antonio J.; Venero, Jose L.; de Pablos, Rocio M. 分享 收藏
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy Mavillard, Fabiola; Servian-Morilla, Emilia; Dofash, Lein; Rojas-Marcos, Inigo; Folland, Chiara; Monahan, Gavin; Gutierrez-Gutierrez, Gerardo; Rivas, Eloy; Hernandez-Lain, Aurelio; Valladares, Amador; Cantero, Gloria; Morales, Jose M.; Laing, Nigel G.; Paradas, Carmen; Ravenscroft, Gianina; Cabrera-Serrano, Macarena 分享 收藏
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events Segarra-Casas, Alba; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Teresa Sanchez-Calvin, Maria; Camacho, Ana; Rivas, Eloy; Campo-Barasoain, Andrea; Madruga, Marcos; Ortez, Carlos; Natera-de Benito, Daniel; Nascimento, Andres; Codina, Anna; Jose Rodriguez, Maria; Gallano, Pia; Gonzalez-Quereda, Lidia 分享 收藏
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism Dofash, Lein N. H.; Monahan, Gavin, V; Servian-Morilla, Emilia; Rivas, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena; Ravenscroft, Gianina 分享 收藏
Sex Hormone Receptor Expression in Craniopharyngiomas and Association with Tumor Aggressiveness Characteristics Martinez-Ortega, Antonio; Flores-Martinez, Alvaro; Venegas-Moreno, Eva; Dios, Elena; Del Can, Diego; Rivas, Eloy; Kaen, Ariel; Cardenas Ruiz-Valdepenas, Eugenio; Fajardo, Elena; Roldan, Florinda; Gonzalez-Rivera, Natividad; Oliva, Rosario; Fernandez-Pena, Jose Ignacio; Soto-Moreno, Alfonso; Cano, David A. 分享 收藏
Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice Lopez-Escobar, Beatriz; Fernandez-Torres, Rut; Vargas-Lopez, Viviana; Villar-Navarro, Mercedes; Rybkina, Tatyana; Rivas-Infante, Eloy; Hernandez-Vinas, Ayleen; Alvarez del Vayo, Concepcion; Caro-Vega, Jose; Sanchez-Alcazar, Jose A.; Gonzalez-Meneses, Antonio; Angel Carrion, M.; Ybot-Gonzalez, Patricia 分享 收藏
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern Servian-Morilla, E.; Cabrera-Serrano, M.; Johnson, K.; Pandey, A.; Ito, A.; Rivas, E.; Chamova, T.; Muelas, N.; Mongini, T.; Nafissi, S.; Claeys, K. G.; Grewal, R. P.; Takeuchi, M.; Hao, H.; Bonnemann, C.; Lopes Abath Neto, O.; Medne, L.; Brandsema, J.; Topf, A.; Taneva, A.; Vilchez, J. J.; Tournev, I.; Haltiwanger, R. S.; Takeuchi, H.; Jafar-Nejad, H.; Straub, V.; Paradas, Carmen 分享 收藏
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TET2 Regulates the Neuroinflammatory Response in Microglia Carrillo-Jimenez, Alejandro; Deniz, Ozgen; Niklison-Chirou, Maria Victoria; Ruiz, Rocio; Bezerra-Salomao, Karina; Stratoulias, Vassilis; Amouroux, Rachel; Yip, Ping Kei; Vilalta, Anna; Cheray, Mathilde; Scott-Egerton, Alexander Michael; Rivas, Eloy; Tayara, Khadija; Garcia-Dominguez, Irene; Garcia-Revilla, Juan; Carlos Fernandez-Martin, Juan; Maria Espinosa-Oliva, Ana; Shen, Xianli; St George-Hyslop, Peter; Brown, Guy Charles; Hajkova, Petra; Joseph, Bertrand; Luis Venero, Jose; Branco, Miguel Ramos; Angel Burguillos, Miguel 分享 收藏
Late-onset thymidine kinase 2 deficiency: a review of 18 cases Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Rivas, Eloy; Hernandez-Voth, Ana; Catalan, Javier Sayas; Fernandez-Torron, Roberto; Fuiza-Luces, Carmen; Garcia Garcia, Jorge; Moris, German; Olive, Montse; Miralles, Frances; Diaz-Manera, Jordi; Caballero, Candela; Mendez-Ferrer, Bosco; Marti, Ramon; Garcia Arumi, Elena; Carmen Badosa, Maria; Esteban, Jesus; Jimenez-Mallebrera, Cecilia; Blazquez Encinar, Alberto; Arenas, Joaquin; Hirano, Michio; Angel Martin, Miguel; Paradas, Carmen 分享 收藏
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy Servian-Morilla, E.; Cabrera-Serrano, M.; Rivas-Infante, E.; Carvajal, A.; Lamont, P. J.; Pelayo-Negro, A. L.; Ravenscroft, G.; Junckerstorff, R.; Dyke, J. M.; Fletcher, S.; Adams, A. M.; Mavillard, F.; Fernandez-Garcia, M. A.; Nieto-Gonzalez, J. L.; Laing, N. G.; Paradas, C. 分享 收藏
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine Cabrera-Serrano, Macarena; Mavillard, Fabiola; Biancalana, Valerie; Rivas, Eloy; Morar, Bharti; Hernandez-Lain, Aurelio; Olive, Montse; Muelas, Nuria; Khan, Eduardo; Carvajal, Alejandra; Quiroga, Pablo; Diaz-Manera, Jordi; Davis, Mark; Avila, Rainiero; Dominguez, Cristina; Romero, Norma Beatriz; Vilchez, Juan J.; Comas, David; Laing, Nigel G.; Laporte, Jocelyn; Kalaydjieva, Luba; Paradas, Carmen 分享 收藏
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss Servian-Morilla, Emilia; Takeuchi, Hideyuki; Lee, Tom V.; Clarimon, Jordi; Mavillard, Fabiola; Area-Gomez, Estela; Rivas, Eloy; Nieto-Gonzalez, Jose L.; Rivero, Maria C.; Cabrera-Serrano, Macarena; Gomez-Sanchez, Leonardo; Martinez-Lopez, Jose A.; Estrada, Beatriz; Marquez, Celedonio; Morgado, Yolanda; Suarez-Calvet, Xavier; Pita, Guillermo; Bigot, Anne; Gallardo, Eduard; Fernandez-Chacon, Rafael; Hirano, Michio; Haltiwanger, Robert S.; Jafar-Nejad, Hamed; Paradas, Carmen 分享 收藏
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders Yubero, Delia; Montero, Raquel; Martin, Miguel A.; Montoya, Julio; Ribes, Antonia; Grazina, Manuela; Trevisson, Eva; Carlos Rodriguez-Aguilera, Juan; Hargreaves, Lain P.; Salviati, Leonardo; Navas, Placido; Artuch, Rafael; Jimenez-Mallebrera, Cecilia; Nascimento, Andres; Perez-Duenas, Belen; Ortez, Carlos; Ramos, Federico; Colomer, Jaume; O'Callaghan, Mar; Pineda, Merce; Garcia-Cazorla, Angels; Espinos, Carmina; Ruiz, Angels; Macaya, Alfons; Marce-Grau, Anna; Garcia-Villoria, Judit; Arias, Angela; Emperador, Sonia; Ruiz-Pesini, Eduardo; Lopez-Gallardo, Ester; Neergheen, Viruna; Simoes, Marta; Diogo, Luisa; Blazquez, Alberto; Gonzalez-Quintana, Adrian; Delmiro, Aitor; Dominguez-Gonzalez, Cristina; Arenas, Joaquin; Teresa Garcia-Silva, Ma; Martin, Elena; Quijada, Pilar; Hernandez-Lain, Aurelio; Moran, Maria; Rivas Infante, Eloy; Avila Polo, Rainiero; Paradas Lope, Carmen; Bautista Lorite, Juan; Martinez Fernandez, Eva M.; Cortes, Ana B.; Sanchez-Cuesta, Ana; Cascajo, Maria V.; Alcazar, Maria; Brea-Calvo, Gloria 分享 收藏
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