-
1دورية أكاديمية
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 17, p 9610 (2021)
مصطلحات موضوعية: MECP2, Rett syndrome, MECP2 duplication syndrome, encephalopathy, point mutation, loss-of-function, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 10, p 5180 (2021)
مصطلحات موضوعية: ataxia, cerebellar atrophy, dysmorphic traits, early-onset cerebellar ataxia, CACNA1A gene, CaV2.1 (P/Q-type) voltage-dependent calcium channel, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano
المصدر: International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)
مصطلحات موضوعية: ataxia, cerebellum, congenital disorders of glycosylation, magentic resonance Imaging (MRI), stroke-like, CaV2.1 voltage-gated calcium channel, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
4
المؤلفون: Ainhoa Pascual‐Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio F. Martínez‐Monseny, Alba Aina Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Campo, Encarna Guillén, Salva Ibañez, María J. Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Elisabet Lloveras, Juan D. Ortigoza‐Escobar, María I. Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María A. Mesas, María Obón, Alberto Plaja, Joaquín A. Fernández‐Ramos, Eduardo Tizzano, Rosario Marín, José L. Peña‐Segura, Soledad Alcántara, Judith Armstrong
المصدر: Clinical Genetics. 97
مصطلحات موضوعية: Genetics, Genetics (clinical)
-
5
المؤلفون: Víctor, de Diego, Antonio F, Martínez-Monseny, Jordi, Muchart, Daniel, Cuadras, Raquel, Montero, Rafael, Artuch, Celia, Pérez-Cerdá, Belén, Pérez, Belén, Pérez-Dueñas, Andrea, Poretti, Mercedes, Serrano, Ramón, Velázquez-Fragua
المصدر: Journal of inherited metabolic disease. 40(5)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Cerebellum, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Neuroimaging, Internal medicine, Genetics, Medicine, Humans, Longitudinal Studies, Child, Genetics (clinical), medicine.diagnostic_test, business.industry, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, medicine.anatomical_structure, Phosphotransferases (Phosphomutases), Spinocerebellar ataxia, Cardiology, Disease Progression, Cerebellar atrophy, Female, business, 030217 neurology & neurosurgery, Phosphomannomutase, Cohort study
-
6دورية أكاديمية
المؤلفون: Marta Ramon-Krauel, Montse Amat-Bou, Mercedes Serrano, Antonio F. Martinez-Monseny, Carles Lerin
المصدر: Journal of Clinical Medicine, Vol 10, Iss 22, p 5328 (2021)
مصطلحات موضوعية: gut microbiota, probiotics, Prader-Willi syndrome, obesity, mental health symptoms, Medicine
وصف الملف: electronic resource