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Patterns and Treatment Timelines of Tuberculosis in Males From Ecuador's Largest Prison 厄瓜多尔最大监狱中男性结核病的模式与治疗时间线 Romero-Sandoval, Natalia; Torres, Monica; Solis, Victor Hugo; Orellana, Fabricio; Castells, Pilar Avila; Andrade, Diego; Sanchez-Perez, Hector; Jimenez, Patricia; Millet, Joan Pau; Cayla, Joan A.; Martin, Miguel 分享 收藏
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Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies Martin-Jimenez, Paloma; Bermejo-Guerrero, Laura; Navarro-Riquelme, Maria; Serrano-Lorenzo, Pablo; Garrido-Moraga, Rocio; Hernandez-Lain, Aurelio; Hernandez-Voth, Ana; Lora, David; Morales, Montserrat; Arenas, Joaquin; Blazquez, Alberto; Martin, Miguel Angel; Dominguez-Gonzalez, Cristina 分享 收藏
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review 扩大TRAF7-Related心脏，面部和数字异常的表型谱与发育迟缓: 11例新病例报告和文献复习 Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Monica; Sanchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cancho-Candela, Ramon; Vazquez-Lopez, Maria; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg, Daniel; Balcells, Susanna; Serrano, Mercedes; Rabionet, Raquel; Martin, Miguel A.; Urreizti, Roser 分享 收藏
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Clinical and Genetic Analysis of Patients With TK2 Deficiency Ceballos, Francisco; Serrano-Lorenzo, Pablo; Bermejo-Guerrero, Laura; Blazquez, Alberto; Quesada-Espinosa, Juan F.; Amigo, Jorge; Minguez, Pablo; Ayuso, Carmen; Garcia-Arumi, Elena; Muelas, Nuria; Jaijo, Teresa; Nascimento, Andres; Galan-Rodriguez, Beatriz; Paradas, Carmen; Arenas, Joaquin; Carracedo, Angel; Marti, Ramon; Martin, Miguel A.; Dominguez-Gonzalez, Cristina 分享 收藏
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Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome Bermejo-Guerrero, Laura; de Fuenmayor-Fernandez de la Hoz, Carlos Pablo; Paz Guerrero-Molina, Maria; Martin-Jimenez, Paloma; Blazquez, Alberto; Serrano-Lorenzo, Pablo; Lora, David; Morales-Conejo, Montserrat; Gonzalez-Martinez, Irene; Lopez-Jimenez, Elena Ana; Martin, Miguel A.; Dominguez-Gonzalez, Cristina 分享 收藏
Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment? Villarreal-Salazar, M.; Santalla, A.; Real-Martinez, A.; Nogales-Gadea, G.; Valenzuela, P. L.; Fiuza-Luces, C.; Andreu, A. L.; Rodriguez-Aguilera, J. C.; Martin, M. A.; Arenas, J.; Vissing, J.; Lucia, A.; Krag, T. O.; Pinos, T. 分享 收藏
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch Fernandez-Vizarra, Erika; Lopez-Calcerrada, Sandra; Sierra-Magro, Ana; Perez-Perez, Rafael; Formosa, Luke E.; Hock, Daniella H.; Illescas, Maria; Penas, Ana; Brischigliaro, Michele; Ding, Shujing; Fearnley, Ian M.; Tzoulis, Charalampos; Pitceathly, Robert D. S.; Arenas, Joaquin; Martin, Miguel A.; Stroud, David A.; Zeviani, Massimo; Ryan, Michael T.; Ugalde, Cristina 分享 收藏
Muscle MRI in McArdle Disease A European Multicenter Observational Study Lokken, Nicoline; Revsbech, Karoline Lolk; Jacobsen, Laura Norager; Martinuzzi, Andrea; Martin, Miguel Angel; Diaz-Manera, Jordi; Dominguez-Gonzalez, Cristina; Brondani, Giovanni; Musumeci, Olimpia; Granata, Francesca; Stefan, Cristina; Merino-Sanchez, Concepcion; Peralta, Claudia Nunez; Khawajazada, Tahmina; Alonso-Perez, Jorge; Toscano, Antonio; Vissing, John 分享 收藏
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A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy Argente-Escrig, Herminia; Vilchez, Juan J.; Frasquet, Marina; Muelas, Nuria; Azorin, Inmaculada; Vilchez, Roger; Millet-Sancho, Elvira; Pitarch, Inmaculada; Tomas-Vila, Miguel; Vazquez-Costa, Juan F.; Mas-Estelles, Fernando; Marco-Marin, Clara; Espinos, Carmen; Serrano-Lorenzo, Pablo; Martin, Miguel A.; Lupo, Vincenzo; Sevilla, Teresa 分享 收藏
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects Bujan, Nuria; Moren, Constanza; Garcia-Garcia, Francesc J.; Blazquez, Alberto; Carnicer, Clara; Belen Cortes, Ana; Gonzalez, Cristina; Lopez-Gallardo, Ester; Lozano, Ester; Moliner, Sonia; Gort, Laura; Tobias, Ester; Delmiro, Aitor; Angel Martin, Miguel; Angel Fernandez-Moreno, Miguel; Ruiz-Pesini, Eduardo; Garcia-Arumi, Elena; Carlos Rodriguez-Aguilera, Juan; Garrabou, Gloria 分享 收藏
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Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations TWNK突变导致的25例常染色体显性进行性眼外肌麻痹 (ad-peo)/PEO加患者的临床，组织学和遗传特征 Bermejo-Guerrero, Laura; de la Hoz, Carlos Pablo de Fuenmayor-fernandez; Serrano-Lorenzo, Pablo; Blazquez-Encinar, Alberto; Gutierrez-Gutierrez, Gerardo; Martinez-Vicente, Laura; Galan-Davila, Lucia; Garcia-Garcia, Jorge; Arenas, Joaquin; Muelas, Nuria; Hernandez-Lain, Aurelio; Dominguez-Gonzalez, Cristina; Martin, Miguel A. 分享 收藏
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency Dominguez-Gonzalez, Cristina; Madruga-Garrido, Marcos; Hirano, Michio; Marti, Itxaso; Martin, Miguel A.; Munell, Francina; Nascimento, Andres; Olive, Montse; Quan, Joanne; Sardina, M. Dolores; Marti, Ramon; Paradas, Carmen 分享 收藏
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2 Arteche-Lopez, A.; Alvarez-Mora, MI.; Sanchez Calvin, MT.; Lezana Rosales, JM.; Palma Milla, C.; Gomez Rodriguez, M. J.; Gomez Manjon, I.; Blazquez, A.; Juarez Rufian, A.; Ramos Gomez, P.; Sierra Tomillo, O.; Hidalgo Mayoral, I.; Perez de la Fuente, R.; Posada Rodriguez, IJ.; Gonzalez Granado, LI.; Martin, Miguel A.; Quesada-Espinosa, JF.; Moreno-Garcia, M. 分享 收藏
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