المؤلفون: Armijo Gómez, Jesus Alfonso, Fernandez‐Garcia, Miguel A., Camacho, Ana, Liz, Marlin, Ortez, Carlos, Lafuente‐Hidalgo, Miguel, Toledo Bravo‐de Laguna, Laura, Estévez‐Arias, Berta, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Domínguez‐Carral, Jana, Nascimento, Andres, Natera‐de Benito, Daniel

المساهمون: Instituto de Salud Carlos III, European Commission

المصدر: Annals of Clinical and Translational Neurology ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.52058Test

المؤلفون: Justel, Maria, Jou, Cristina, Sariego-Jamardo, Andrea, Juliá-Palacios, Natalia Alexandra, Ortez, Carlos, Poch, Maria Luisa, Hedrera-Fernandez, Antonio, Gomez-Martin, Hilario, Codina, Anna, Dominguez-Carral, Jana, Muxart, Jordi, Hernández-Laín, Aurelio, Vila-Bedmar, Sara, Zulaica, Miren, Castro, Margarita del Carmen, de la Osa-Langreo, Alberto, Peña-Valenceja, Alfonso, Marcos-Vadillo, Elena, Prieto-Matos, Pablo, Pascual-Pascual, Samuel Ignacio, López de Munain, Adolfo, Camacho, Ana, Estevez-Arias, Berta, Musokhranova, Uliana, Olivella, Mireia, Oyarzábal, Alfonso, Jimenez-Mallebrera, Cecilia, Domínguez-González, Cristina, Nascimento, Andrés, García-Cazorla, Àngels, Natera-de Benito, Daniel, Cancho-Candela, Ramon

وصف الملف: application/pdf

العلاقة: https://doi.org/10.1136/jmg-2022-109132Test; Journal of Medical Genetics. 2023 May 16:jmg-2022-109132.; https://uvadoc.uva.es/handle/10324/64655Test; 965; 10; 973; Journal of Medical Genetics; 60

الإتاحة: https://doi.org/10.1136/jmg-2022-109132Test
https://uvadoc.uva.es/handle/10324/64655Test

المؤلفون: Domínguez‐Carral, Jana, Ludlam, William Grant, Junyent Segarra, Mar, Fornaguera Marti, Montserrat, Balsells, Sol, Muchart, Jordi, Čokolić Petrović, Dunja, Espinoza, Iván, Ortigoza‐Escobar, Juan Dario, Martemyanov, Kirill A., Cancho-Candela, Ramon

وصف الملف: application/pdf

العلاقة: https://doi.org/10.1002/ana.26758Test; Annals of Neurology 2023 Nov;94(5):987-1004; https://uvadoc.uva.es/handle/10324/64650Test; 987; 1004; Annals of Neurology; 94

الإتاحة: https://doi.org/10.1002/ana.26758Test
https://uvadoc.uva.es/handle/10324/64650Test

المؤلفون: Aguilera, Cinthia, Gabau, Elisabeth, Ramírez Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla Sirera, Natà lia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena Díez, Neus, Guitart, Míriam, Ruiz, Anna

وصف الملف: application/pdf

العلاقة: Instituto de Salud Carlos III PI16/01411; Ministerio de Economía y Competitividad SAF2016-80255-R; PloS one; Vol. 16 (october 2021); https://ddd.uab.cat/record/269739Test; urn:10.1371/journal.pone.0258766; urn:oai:ddd.uab.cat:269739; urn:pmcid:PMC8519432; urn:pmc-uid:8519432; urn:pmid:34653234; urn:oai:pubmedcentral.nih.gov:8519432; urn:oai:egreta.uab.cat:publications/1a0c6071-0779-41d8-a3fb-2d5c385f9c97; urn:scopus_id:85117354780

الإتاحة: https://ddd.uab.cat/record/269739Test

المؤلفون: Justel, Maria, Jou, Cristina, Sariego Jamardo, Andrea, Juliá-Palacios, Natalia Alexandra, Ortez, Carlos, Poch, Maria Luisa, Hedrera Fernandez, Antonio, Gomez Martin, Hilario, Codina, Anna, Dominguez Carral, Jana, Muxart, Jordi, Hernández Laín, Aurelio, Vila Bedmar, Sara, Zulaica, Miren, Cancho Candela, Ramon, Castro, Margarita del Carmen, de la Osa-Langreo, Alberto, Valenceja, Alfonso Peña, Marcos Vadillo, Elena, Prieto Matos, Pablo

المصدر: Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p965-973, 14p

المؤلفون: Garone, Caterina, Taylor, Robert W., Nascimento, Andres, Poulton, Joanna, Fratter, Carl, Dominguez-Gonzalez, Cristina, Evans, Julie C., Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M. Imelda, McFarland, Robert, Barca, Emanuele, Gomez, Carlos Lopez, Jayawant, Sandeep, Thomas, Neil D., Manzur, Adnan Y., Kleinsteuber, Karin, Martin, Miguel A., Kerr, Timothy, Gorman, Grainne S., Sommerville, Ewen W., Chinnery, Patrick F., Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Camara, Yolanda, Madruga-Garrido, Marcos, Dominguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F., Schoenaker, Robert, Levin, Bruce, Thompson, John L. P., Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio

المساهمون: Doctoral Programme in Clinical Research, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Research Programme for Molecular Neurology, Children's Hospital, Clinicum, Lastenneurologian yksikkö, University of Helsinki, Doctoral Programme Brain & Mind, Neurologian yksikkö, Neuroscience Center, HUS Children and Adolescents

مصطلحات موضوعية: MITOCHONDRIAL-DNA DEPLETION, SPINAL MUSCULAR-ATROPHY, TK2 GENE, MTDNA DEPLETION, MYOPATHIC FORM, MUTATIONS, PATIENT, DELETIONS, SPECTRUM, DEFECT, 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: This work was supported by research grants from NIH (P01 HD080642) and U54 NS078059 from NINDS, NICHD, ODS and the National Center for Advancing Translational Science (NCATS), the Muscular Dystrophy Association (MIH) and the Associarione Maalattie Metaboliche Congenite eredit arie (AMMeC) (CG) as well as by the Arturo Estopinan TK2 Research Fund (MIH) and the Marriott Mitochondrial Disease Clinic Research Fund (MMDCRF) (MIN). FONT is funded by a Wellcome Trust Strategic Award (096919/Z/11/Z), the MRC Centre for Nleuromuscular Diseases (G0601943), the Lily Foundation and the UK NHS Highly Specialised 'Rare Mitochondrial Disorders of Adults and Children' Service. JP is funded by a Medical Research Council Project Grant (MR/101044811), Wellcome Trust Project Grant (0948685/Z/10/Z), and UK NHS Highly Specialised 'Rare Mitochondrial Disorders of Adults and Children' Service. SR acknowledges support from a Great Ormond Street Hospital Children's Charity Research Leadership award (V1260) and the Lily Foundation. PFC is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z) and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_150112), the Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z), the Medical Research Council (UK) Centre for Translational Muscle Disease research (G0601943), EU FP7 TIRCON and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge. During this study, AS has received support from Sigrid Juselius Foundation, Jane and Aatos Erkko Foundation, Academy of Finland, European Research Council and University of Helsinki. MAM has received funding from the Spanish Instituto Salud Carlos III (ISCIII) (FIS-P112/01683). JM has received funding from the ISCIII (FIS-P114/00005), Departamento de Ciencia, Tecnologia y Universidad del Gobierno de Aragon (Grupos Consolidados B33), FEDER Funding Program from the European Union, and CIBERER, an initiative of the ISCIII. AN has received funding from 'Biobanc de l'Hospital Infantil Sant Joan de Deu per a la Investigacia' integrated in the Spanish Biobank Network of ISCIII for the sample and data procurement. YC has received funding from the Spanish Ministry of Economy and Competitiveness (BFU2014-52618-R) and AFM-Telethon (19965).; Garone , C , Taylor , R W , Nascimento , A , Poulton , J , Fratter , C , Dominguez-Gonzalez , C , Evans , J C , Loos , M , Isohanni , P , Suomalainen , A , Ram , D , Hughes , M I , McFarland , R , Barca , E , Gomez , C L , Jayawant , S , Thomas , N D , Manzur , A Y , Kleinsteuber , K , Martin , M A , Kerr , T , Gorman , G S , Sommerville , E W , Chinnery , P F , Hofer , M , Karch , C , Ralph , J , Camara , Y , Madruga-Garrido , M , Dominguez-Carral , J , Ortez , C , Emperador , S , Montoya , J , Chakrapani , A , Kriger , J F , Schoenaker , R , Levin , B , Thompson , J L P , Long , Y , Rahman , S , Donati , M A , DiMauro , S & Hirano , M 2018 , ' Retrospective natural history of thymidine kinase 2 deficiency ' , Journal of Medical Genetics , vol. 55 , no. 8 , pp. 515-521 . https://doi.org/10.1136/jmedgenet-2017-105012Test; 85047615954; aa4c1846-216c-44f9-9a29-4754248ad194; http://hdl.handle.net/10138/243584Test; 000442457100002

الإتاحة: http://hdl.handle.net/10138/243584Test

المؤلفون: Natera‐de Benito, Daniel, Muchart, Jordi, Itzep, Debora, Ortez, Carlos, González‐Quereda, Lidia, Gallano, Pía, Ramirez, Alia, Aparicio, Javier, Domínguez‐Carral, Jana, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Pardo Cardozo, Nathalia, Cuadras, Daniel, Codina, Anna, Jou, Cristina, Jimenez‐Mallebrera, Cecilia, Palau, Francesc, Colomer, Jaume, Arzimanoglou, Alexis, Nascimento, Andrés, San Antonio‐Arce, Victoria

المساهمون: Fundación Mutua Madrileña

المصدر: Epilepsia ; volume 61, issue 5, page 971-983 ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.16493Test

المؤلفون: García Peñas, Juan José, Domínguez Carral, Jana

مصطلحات موضوعية: Discapacidad, Trastornos de atención, Hiperactividad, Diagnóstico, Epidemiología, Tendencias

جغرافية الموضوع: España

العلاقة: 1-5; Evidencias en pediatría; 51; http://hdl.handle.net/11181/4291Test

الإتاحة: http://hdl.handle.net/11181/4291Test

المؤلفون: Dominguez-Carral, Jana, Reinhard, Carola, Ebrahimi-Fakhari, Darius, Dorison, Nathalie, Galosi, Serena, Garone, Giacomo, Malenica, Masa, Ravelli, Claudia, Serdaroglu, Esra, van de Pol, Laura, Koy, Anne, Leuzzi, Vincenzo, Roubertie, Agathe, Lin, Jean Pierre, Doummar, Diane, Cif, Laura, Ortigoza-Escobar, Juan Dario

الإتاحة: https://doi.org/10.2139/ssrn.4625738Test

المؤلفون: Natera-de Benito, Daniel, Topf, Ana, Dominguez-Carral, Jana, Vilchez, Juan Jesus, Diaz Manera, Jorge Alberto, Ortez, Carlos, Oferil, Jaume Colomer, Lochmuller, Hanns, Nascimento, Andres

المصدر: European Journal of Paediatric Neurology ; volume 21, page e222 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.ejpn.2017.04.1222Test
https://api.elsevier.com/content/article/PII:S1090379817314812?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379817314812?httpAccept=text/plainTest