المؤلفون: González-Viejo, Miguel Angel, Avellanet, Merce, Boada-Pladellorens, Anna, Montesinos-Magraner, Lluïsa, Jaúregui-Abrisqueta, María Luisa, Bárbara-Bataller, Enrique, Méndez-Ferrer, Bosco, Sánchez-Raya, Judith, Cívicos, Nora, Méndez-Suarez, José Luis, Barrera-Chacón, Juana María

المصدر: Global Spine Journal ; volume 14, issue 8, page 2381-2388 ; ISSN 2192-5682 2192-5690

الاتاحة: https://doi.org/10.1177/21925682231183972
https://journals.sagepub.com/doi/pdf/10.1177/21925682231183972
https://journals.sagepub.com/doi/full-xml/10.1177/21925682231183972

المؤلفون: González-Viejo, Miguel Angel, Avellanet, Merce, Boada-Pladellorens, Anna, Montesinos-Magraner, Lluïsa, Jaúregui-Abrisqueta, María Luisa, Bárbara-Bataller, Enrique, Méndez-Ferrer, Bosco, Sánchez-Raya, Judith, Cívicos, Nora, Méndez-Suarez, José Luis, Barrera-Chacón, Juana María

المصدر: Global Spine Journal; Nov2024, Vol. 14 Issue 8, p2381-2388, 8p

مصطلحات موضوعية: ACCESS to primary care, SPINAL cord injuries, DISABILITY retirement, SPINAL injuries, SATISFACTION

المؤلفون: Domínguez González, Cristina, Hernández lain, Aurelio, Rivas, Eloy, Hernández Voth, Ana, Sayas Catalán, Javier, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge, Morís, Germán, Olivé i Plana, Montserrat, Miralles, Francesc, Díaz Manera, Jordi, Caballero, Candela, Méndez Ferrer, Bosco, Martí, Ramon, García Arumí, Elena, Badosa, Carmen, Esteban, Jesús, Jiménez-Mallebrera, Cecilia, Blázquez Encinar, Alberto, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ángel, Paradas, Carmen

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Mitocondris, Malalties musculars, Mitochondria, Muscular Diseases

وصف الملف: 10 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1186/s13023-019-1071-z; Orphanet Journal of Rare Diseases, 2019, vol. 14; https://doi.org/10.1186/s13023-019-1071-z; http://hdl.handle.net/2445/171554

الاتاحة: http://hdl.handle.net/2445/171554

المؤلفون: Domínguez-González, Cristina, Hernández-Laín, Aurelio, Rivas, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García García, Jorge, Morís, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero, Candela, Méndez-Ferrer, Bosco, Martí, Ramon, García Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jimenez-Mallebrera, Cecilia, Blazquez Encinar, Alberto, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ángel, Paradas, Carmen

المساهمون: Dominguez-Gonzalez,C, Esteban,J Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Dominguez-Gonzalez,C, Fuiza-Luces,C, Esteban,J, Blazquez Encinar,A, Arenas,J, Martin,MA Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. Dominguez-Gonzalez,C, Díaz-Manera,J, Martí,C, García Arumi,E, Jimenez-Mallebrera,C, Martin,MA Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Hernández-Laín,A Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Rivas,E Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. Hernández-Voth,A, Sayas Catalán,J Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Fernández-Torrón,R Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. Fuiza-Luces,C, Martin,MA Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain. García García,J Neurology Department, Hospital de Albacete, Albacete, Spain. Morís,G Neurology Department, Neuromuscular disorders Unit, Hospital Central de Asturias, Oviedo, Spain. Olivé,M Pathological Anatomy Department, Neuromuscular disorders unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain. Miralles,F Neurology department, Neuromuscular disorders unit, Hospital Universitari Son Espases, Palma, Spain. Díaz-Manera,J Neurology department, Neuromuscular disorders unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. Caballero,C Respiratory Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, CIBERES, Universidad de Sevilla, Sevilla, Spain. Méndez-Ferrer,B Rehabilitation Department, Hospital Virgen del Rocio, Sevilla, Spain. Martí,R, Badosa,MC, Jimenez-Mallebrera,C Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain. García Arumi,E Research group on Neuromuscular and Mitochondrial Diseases, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain. Hirano,M Department of Neurology, H. Houston Merritt Center, Columbia University Medical Center, New York, USA. Paradas,C Neurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. Paradas,C Biomedical Network Research Centre on Neurodegenerative Diseases (CIBERNED), Madrid, Spain., This work was supported by research grants of Plan Nacional de I + D + I and Instituto de Salud Carlos III (ISCIII), Subdirección General de Evaluación y Fomento de la Investigación Sanitaria”, project PI16–01843 (CP), PI16/00579 and CP09/00011 for CJM and the European Regional Development Fund (FEDER a way to achieve Europe). MAM has received funding from the Spanish ISCIII (grant PI 15/00431). A multicentric grant funded by the ISCIII (PMP15/00025 to MAM, RM, MO, CP).

مصطلحات موضوعية: TK2 deficiency, Mitochondrial myopathy, Multiple deletions, Timidina quinasa, Miopatías mitocondriales, Gene delention, Eliminación de gen, DNA, mitochondrial, ADN mitocondrial, Medical Subject Headings::Persons::Persons::Age Groups::Adolescent, Medical Subject Headings::Persons::Persons::Age Groups::Adult, Medical Subject Headings::Persons::Persons::Age Groups::Child, Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Medical Subject Headings::Check Tags::Female, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Check Tags::Male, Medical Subject Headings::Persons::Persons::Age Groups::Adult::Middle Aged, Medical Subject Headings::Diseases::Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies, Medical Subject Headings::Anatomy::Musculoskeletal System::Muscles::Muscle, Skeletal, Medical Subject Headings::Diseases::Musculoskeletal Diseases::Muscular Diseases, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies::Retrospective Studies, Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase, Medical Subject Headings::Persons::Persons::Age Groups::Adult::Young Adult

وصف الملف: application/pdf

Relation: https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1071-z; Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, et al. Late-onset thymidine kinase 2 deficiency: a review of 18 cases. Orphanet J Rare Dis. 2019 May 6;14(1):100.; http://hdl.handle.net/10668/3171; PMC6501326

الاتاحة: http://hdl.handle.net/10668/3171
https://doi.org/10.1186/s13023-019-1071-z

المؤلفون: Escribá, Pablo V., Gil-Agudo, Ángel M., Vidal Samsó, Joan, Sánchez-Raya, Judith, Salvador-de la Barrera, Sebastián, Soto-León, Vanesa, León-Álvarez, Natacha, Méndez Ferrer, Bosco, Membrilla-Mesa, Miguel David, Redondo Galán, Carolina, Benito-Penalva, Jesús, Montoto-Marqués, Antonio, Medel Rebollo, Javier, Palazón García, Ramiro, Gutiérrez Henares, Francisco, Miralles, Marc, Torres, Manuel, Nieto-Librero, Ana B., García Marco, David, Gómez, Carmela, Jimeno, David, Oliviero, Antonio

المصدر: Spinal Cord; 20240101, Issue: Preprints p1-14, 14p

المؤلفون: Instituto de Salud Carlos III, European Commission, Ministerio de Economía y Competitividad (España), Domínguez-Gonzalez, Cristina, Hernández-Laín, Aurelio, Riva, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García-García, Jorge, Moris, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero-Eraso, Candela, Méndez-Ferrer, Bosco, Martí, Ramón, García Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jiménez-Mallebrera, Cecilia, Blázquez Encinar, Alberto, Arenas, Joaquín, Hirano, Michio, Martín, Miguel Ángel, Paradas, Carmen

مصطلحات الفهرس: TK2 deficiency, Mitochondrial myopathy, Multiple deletions, artículo

URL: http://hdl.handle.net/10261/204934
https://doi.org/10.1186/s13023-019-1071-z
Publisher's version
https://doi.org/10.1186/s13023-019-1071-z
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