المؤلفون: Blazquez-Bermejo, C, Molina-Granada, D, Vila-Julia, F, Jimenez-Heis, D, Zhou, XS, Torres-Torronteras, J, Karlsson, A, Marti, R, Camara, Y

المصدر: EBioMedicine. 46:342-355

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141857509

المؤلفون: Contador Muñana, J., Ortiz Romero, P., Anastasi, F., Estragués Gázquez, I., Fernández Lebrero, A., de Diego, M., Blasco Forniés, H., Jiménez Moyano, E., Torres Torronteras, J., del Campo Milán, M., Navalpotro Gómez, I., García Escobar, G., Manero Borrás, R., Puente Périz, V., Grau Rivera, O., Puig Pijoan, A., Suárez Calvet, M.

المصدر: Neurology Perspectives ; volume 4, page 23 ; ISSN 2667-0496

الاتاحة: https://doi.org/10.1016/s2667-0496(24)00109-1
https://api.elsevier.com/content/article/PII:S2667049624001091?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2667049624001091?httpAccept=text/plain

المؤلفون: Shintaku J, Pernice WM, Eyaid W, Jeevan BGC, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DMEI, Blakely EL, Donaldson A, van de Laar I, Leu C-S, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M

المصدر: Journal of Clinical Investigation, 1 July 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/282980; https://eprints.ncl.ac.uk/fulltext.aspx?url=282980/8F0DB4B9-D6FF-4028-8358-F0769CCDF198.pdf&pub_id=282980

الاتاحة: https://eprints.ncl.ac.uk/282980

المؤلفون: Hirano, M, Carelli, V, De Giorgio, R, Pironi, L, Accarino, A, Cenacchi, G, D'Alessandro, R, Filosto, M, Martí, R, Nonino, F, Pinna, AD, Baldin, E, Bax, BE, Bolletta, A, Bolletta, R, Boschetti, E, Cescon, M, D'Angelo, R, Dotti, MT, Giordano, C, Gramegna, LL, Levene, M, Lodi, R, Mandel, H, Morelli, MC, Musumeci, O, Pugliese, A, Scarpelli, M, Siniscalchi, A, Spinazzola, A, Tal, G, Torres-Torronteras, J, Vignatelli, L, Zaidman, I, Zoller, H, Rinaldi, R, Zeviani, M

المصدر: Journal of Inherited Metabolic Disease , 44 (2) pp. 376-387. (2021)

مصطلحات موضوعية: consensus conference, enzyme replacement, mitochondrial neurogastrointestinal encephalomyopathy, mitochondrial disease, TYMP, thymidine phosphorylase

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10113066/3/Spinazzola_03_MNGIE-Consensus-Main%20Text%20revised%20tracked.pdf; https://discovery.ucl.ac.uk/id/eprint/10113066/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10113066/3/Spinazzola_03_MNGIE-Consensus-Main%20Text%20revised%20tracked.pdf
https://discovery.ucl.ac.uk/id/eprint/10113066/

المؤلفون: Dominguez-Gonzalez C., Madruga-Garrido M., Mavillard F., Garone C., Aguirre-Rodriguez F. J., Donati M. A., Kleinsteuber K., Marti I., Martin-Hernandez E., Morealejo-Aycinena J. P., Munell F., Nascimento A., Kalko S. G., Sardina M. D., Alvarez del Vayo C., Serrano O., Long Y., Tu Y., Levin B., Thompson J. L. P., Engelstad K., Uddin J., Torres-Torronteras J., Jimenez-Mallebrera C., Marti R., Paradas C., Hirano M.

المساهمون: Dominguez-Gonzalez C., Madruga-Garrido M., Mavillard F., Garone C., Aguirre-Rodriguez F.J., Donati M.A., Kleinsteuber K., Marti I., Martin-Hernandez E., Morealejo-Aycinena J.P., Munell F., Nascimento A., Kalko S.G., Sardina M.D., Alvarez del Vayo C., Serrano O., Long Y., Tu Y., Levin B., Thompson J.L.P., Engelstad K., Uddin J., Torres-Torronteras J., Jimenez-Mallebrera C., Marti R., Paradas C., Hirano M.

مصطلحات موضوعية: tk2, myopathy, nucleosides, therapy

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31125140; info:eu-repo/semantics/altIdentifier/wos/WOS:000475670500013; volume:86; issue:2; firstpage:293; lastpage:303; numberofpages:11; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11585/715887; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067438708; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1531-8249

الاتاحة: http://hdl.handle.net/11585/715887
https://doi.org/10.1002/ana.25506
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1531-8249

المؤلفون: Carreño Gago, Lidia, Blázquez-Bermejo, Cora, Diaz-Manera, Jordi., Cámara, Yolanda, Gallardo, Eduard, Martí, R., Torres-Torronteras, J., Garcia-Arumi, Elena, Universitat Autònoma de Barcelona

وصف الملف: application/pdf

Relation: Ministerio de Economía y Competitividad SAF2017-87506-R; Instituto de Salud Carlos III FIS PI1501428; Instituto de Salud Carlos III FIS PI18-01574; Agència de Gestió d'Ajuts Universitaris i de Recerca SLT002-16-00370; Frontiers in genetics; Vol. 10 Núm. JUN (2019), p. 576; https://ddd.uab.cat/record/223539; urn:10.3389/fgene.2019.00576; urn:oai:ddd.uab.cat:223539; urn:scopus_id:85068967295; urn:articleid:16648021v10nJUNp576; urn:pmid:31258551; urn:pmcid:PMC6588129; urn:pmc-uid:6588129; urn:oai:pubmedcentral.nih.gov:6588129; urn:oai:egreta.uab.cat:publications/24820636-2032-4252-b01b-bd77a9c7268e

الاتاحة: https://ddd.uab.cat/record/223539

المؤلفون: Yadak, R.M.A. (Rana), Cabrera-Pérez, R. (Raquel), Torres-Torronteras, J., Bugiani, M. (Marianna), Haeck, J.C. (Joost), Huston, M.W. (Marshall W.), Bogaerts, E. (Elly), Goffart, S. (Steffi), Jacobs, E.H. (Edwin), Stok, M. (Merel), Leonardelli, L. (Lorena), Biasco, L. (Luca), Verdijk, R.M. (Robert), Bernsen, M.R. (Monique), Ruijter, G.J.G. (George), Martí, R. (Ramon), Wagemaker, G. (Gerard), Til, N.P. (Niek) van, Coo, I.F.M. (René) de

المصدر: Molecular Therapy - Methods and Clinical Development vol. 8, pp. 152-165

مصطلحات موضوعية: gene therapy, hematopoietic stem cells, lentiviral vectors, MNGIE, thymidine phosphorylase

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/105259; urn:hdl:1765/105259

الاتاحة: http://repub.eur.nl/pub/105259
https://doi.org/10.1016/j.omtm.2018.01.001

المؤلفون: Yadak, R, Cabrera-Pérez, R, Torres-Torronteras, J, Bugiani, M, Haeck, JC, Huston, MW, Bogaerts, E, Goffart, S, Jacobs, EH, Stok, M, Leonardelli, L, Biasco, L, Verdijk, RM, Bernsen, MR, Ruijter, G, Martí, R, Wagemaker, G, van Til, NP, de Coo, IFM

المصدر: Molecular Therapy: Methods & Clinical Development , 8 pp. 152-165. (2018)

مصطلحات موضوعية: MNGIE, gene therapy, hematopoietic stem cells, lentiviral vectors, thymidine phosphorylase

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10048985/1/Preclinical%20Efficacy%20and%20Safety%20Evaluation%20of%20Hematopoietic%20Stem%20Cell%20Gene%20Therapy%20in%20a%20Mouse%20Model%20of%20MNGIE.pdf; https://discovery.ucl.ac.uk/id/eprint/10048985/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10048985/1/Preclinical%20Efficacy%20and%20Safety%20Evaluation%20of%20Hematopoietic%20Stem%20Cell%20Gene%20Therapy%20in%20a%20Mouse%20Model%20of%20MNGIE.pdf
https://discovery.ucl.ac.uk/id/eprint/10048985/

المؤلفون: Saez-Lopez, Cristina, Brianso-Llort, Laura, Torres-Torronteras, J., Simó Canonge, Rafael, Hammond, Geoffrey L., Martínez Selva, David

وصف الملف: application/pdf

Relation: Scientific reports; Vol. 8 (march 2018); https://ddd.uab.cat/record/253473; urn:10.1038/s41598-018-23159-y; urn:oai:ddd.uab.cat:253473; urn:pmcid:PMC5859090; urn:pmc-uid:5859090; urn:pmid:29555933; urn:oai:pubmedcentral.nih.gov:5859090; urn:oai:egreta.uab.cat:publications/f6dce6f0-7901-4578-82d8-c023680b2791

الاتاحة: https://ddd.uab.cat/record/253473

المؤلفون: Saez-Lopez, Cristina, Brianso-Llort, Laura, Torres-Torronteras, J., Simó, Rafael, Hammond, Geoffrey L., Selva, David M.

المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-017-12509-x
https://www.nature.com/articles/s41598-017-12509-x
https://www.nature.com/articles/s41598-017-12509-x.pdf

المؤلفون: Hirano M., Carelli V., De Giorgio R., Pironi L., Accarino A., Cenacchi G., D'Alessandro R., Filosto M., Marti R., Nonino F., Pinna A. D., Baldin E., Bax B. E., Bolletta A., Bolletta R., Boschetti E., Cescon M., D'Angelo R., Dotti M. T., Giordano C., Gramegna L. L., Levene M., Lodi R., Mandel H., Morelli M. C., Musumeci O., Pugliese A., Scarpelli M., Siniscalchi A., Spinazzola A., Tal G., Torres-Torronteras J., Vignatelli L., Zaidman I., Zoller H., Rinaldi R., Zeviani M.

المساهمون: Hirano, M., Carelli, V., De Giorgio, R., Pironi, L., Accarino, A., Cenacchi, G., D'Alessandro, R., Filosto, M., Marti, R., Nonino, F., Pinna, A. D., Baldin, E., Bax, B. E., Bolletta, A., Bolletta, R., Boschetti, E., Cescon, M., D'Angelo, R., Dotti, M. T., Giordano, C., Gramegna, L. L., Levene, M., Lodi, R., Mandel, H., Morelli, M. C., Musumeci, O., Pugliese, A., Scarpelli, M., Siniscalchi, A., Spinazzola, A., Tal, G., Torres-Torronteras, J., Vignatelli, L., Zaidman, I., Zoller, H., Rinaldi, R., Zeviani, M.

مصطلحات موضوعية: consensus conference, enzyme replacement, mitochondrial disease, mitochondrial neurogastrointestinal encephalomyopathy, thymidine phosphorylase, TYMP

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000568136800001; volume:44; firstpage:376; lastpage:387; numberofpages:12; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11570/3175858; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090443092

الاتاحة: https://hdl.handle.net/11570/3175858
https://doi.org/10.1002/jimd.12300

المؤلفون: López-Estévez, S, Ferrer, G, Torres-Torronteras, J, Mansilla, M J, Casacuberta-Serra, S, Martorell, L, Hirano, M, Martí, R, Barquinero, J

المصدر: Gene Therapy ; volume 21, issue 7, page 673-681 ; ISSN 0969-7128 1476-5462

الاتاحة: http://dx.doi.org/10.1038/gt.2014.41
https://www.nature.com/articles/gt201441.pdf
https://www.nature.com/articles/gt201441

المؤلفون: Torres-Torronteras, J, Gómez, A, Eixarch, H, Palenzuela, L, Pizzorno, G, Hirano, M, Andreu, A L, Barquinero, J, Martí, R

المصدر: Gene Therapy ; volume 18, issue 8, page 795-806 ; ISSN 0969-7128 1476-5462

الاتاحة: http://dx.doi.org/10.1038/gt.2011.24
https://www.nature.com/articles/gt201124.pdf
https://www.nature.com/articles/gt201124

المؤلفون: Torres-Torronteras J., Cabrera-Perez R., Vila-Julia F., Viscomi C., Camara Y., Hirano M., Zeviani M., Marti R.

المساهمون: Torres-Torronteras, J., Cabrera-Perez, R., Vila-Julia, F., Viscomi, C., Camara, Y., Hirano, M., Zeviani, M., Marti, R.

مصطلحات موضوعية: AAV, liver/metabolic, MNGIE, thymidine phosphorylase, mitochondria, Animal, Carcinogenesi, Deoxyuridine, Dependoviru, Female, Gene Dosage, Genetic Vector, Intestinal Pseudo-Obstruction, Kaplan-Meier Estimate, Liver, Male, Mice, Muscular Dystrophy, Oculopharyngeal, Thymidine, Time Factor, Transgene, Genetic Therapy

Relation: info:eu-repo/semantics/altIdentifier/pmid/29284302; info:eu-repo/semantics/altIdentifier/wos/WOS:000426116000001; volume:29; issue:6; firstpage:708; lastpage:718; numberofpages:11; journal:HUMAN GENE THERAPY; http://hdl.handle.net/11577/3321419; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048680448; www.liebertonline.com/hum

الاتاحة: http://hdl.handle.net/11577/3321419
https://doi.org/10.1089/hum.2017.133

المؤلفون: Halter, J. P, Michael, W, Schüpbach, M, Mandel, H, Casali, C, Orchard, K, Collin, M, Valcarcel, D, Rovelli, A, Filosto, M, Dotti, M. T, Marotta, G, Pintos, G, Barba, P, Accarino, A, Ferra, C, Illa, I, Beguin, Y, Bakker, J. A, Boelens, J. J, De Coo, I. F. M, Fay, K, Sue, C. M, Nachbaur, D, Zoller, H, Sobreira, C, Pinto Simoes, B, Hammans, S. R, Savage, D, Martí, R, Chinnery, P. F, Elhasid, R, Gratwohl, A, Hirano, M, Barros Navarro, G, Benoist, J. F, Bierau, J, Bucalossi, A, Carluccio, M. A, Coll-Canti, J, Cotelli, M. S, Diesch, T, Di Fabio, R, Donati, M. A, Garvin, J. H, Hill, K, Kappeler, L, Ku Hne, T, Lara, M. C, Lenoci, M, Lucchini, G, Marques, W. Jr, Mattle, H. P, Meyer, A, Parini, R, Passweg, J. R, Pieroni, F, Rodriguez-Palmero, A, Santus, F, Scarpelli, M, Schlesser, P, Sicurelli, F, Stern, M, Stracieri, A. B, Tonin, P, Torres-Torronteras, J, Voltarelli, J. C, Zaidman, I.

المساهمون: Halter, J. P, Michael, W, Schüpbach, M, Mandel, H, Casali, C, Orchard, K, Collin, M, Valcarcel, D, Rovelli, A, Filosto, M, Dotti, M. T, Marotta, G, Pintos, G, Barba, P, Accarino, A, Ferra, C, Illa, I, Beguin, Y, Bakker, J. A, Boelens, J. J, De Coo, I. F. M, Fay, K, Sue, C. M, Nachbaur, D, Zoller, H, Sobreira, C, Pinto Simoes, B, Hammans, S. R, Savage, D, Martí, R, Chinnery, P. F, Elhasid, R, Gratwohl, A, Hirano, M, Barros Navarro, G, Benoist, J. F, Bierau, J, Bucalossi, A, Carluccio, M. A, Coll-Canti, J, Cotelli, M. S, Diesch, T, Di Fabio, R, Donati, M. A, Garvin, J. H, Hill, K, Kappeler, L, Ku Hne, T, Lara, M. C, Lenoci, M, Lucchini, G, Marques, W. Jr, Mattle, H. P, Meyer, A, Parini, R, Passweg, J. R, Pieroni, F, Rodriguez-Palmero, A, Santus, F, Scarpelli, M, Schlesser, P, Sicurelli, F, Stern, M, Stracieri, A. B, Tonin, P, Torres-Torronteras, J, Voltarelli, J. C, Zaidman, I.

مصطلحات موضوعية: allogeneic haematopoietic stem cell transplantation, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), outcome, risk factor, thymidine phosphorylase

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/26264513; info:eu-repo/semantics/altIdentifier/wos/WOS:000365136200015; volume:138; issue:10; firstpage:2847; lastpage:2858; numberofpages:12; journal:BRAIN; http://hdl.handle.net/11365/983048; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942556994; https://academic.oup.com/brain/article/138/10/2847/2468713; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836400/

الاتاحة: http://hdl.handle.net/11365/983048
https://doi.org/10.1093/brain/awv226
https://academic.oup.com/brain/article/138/10/2847/2468713
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836400/

المؤلفون: Yadak, Rana, Cabrera-Perez, R, Torres-Torronteras, J, Bugiani, M, Haeck, Joost, Huston, MW, Taal, Elly, Goffart, S, Jacobs, Ed, Stok, M, Leonardelli, L, Biasco, L, Verdijk, Rob, Bernsen, Monique, Ruijter, GJG, Marti, R, Wagemaker, G, Til, NP, Coo, IFM

المصدر: Yadak , R , Cabrera-Perez , R , Torres-Torronteras , J , Bugiani , M , Haeck , J , Huston , MW , Taal , E , Goffart , S , Jacobs , E , Stok , M , Leonardelli , L , Biasco , L , Verdijk , R , Bernsen , M , Ruijter , GJG , Marti , R , Wagemaker , G , Til , NP & Coo , IFM 2018 , ' Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE ' , Molecular Therapy-Methods & Clinical Development , vol. 8 , pp. 152-165 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES033002; name=EMC NIHES-03-30-02, dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES033003; name=EMC NIHES-03-30-03, article

URL: https://pure.eur.nl/en/publications/a66c5ce7-2407-402c-9dfd-4a301b27fbe8

المؤلفون: Cámara Y., González Vioque E., Torres Torronteras J., Caballero A., Hirano M., Martí R., SCARPELLI, Mauro

المساهمون: Cámara, Y., González Vioque, E., Scarpelli, Mauro, Torres Torronteras, J., Caballero, A., Hirano, M., Martí, R.

مصطلحات موضوعية: deoxyribonucleoside, catabolism inhibition, mitochondrial DNA depletion syndrome, pharmacological approach

Relation: info:eu-repo/semantics/altIdentifier/pmid/24362886; info:eu-repo/semantics/altIdentifier/wos/WOS:000334359100019; ispartofbook:Human Molecular Genetics; volume:23; issue:9; firstpage:2459; lastpage:2467; numberofpages:9; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11562/651961; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84897559267; http://dx.doi.org/ 10.1093/hmg/ddt641

الاتاحة: http://hdl.handle.net/11562/651961
https://doi.org/10.1093/hmg/ddt641
http://dx.doi.org/ 10.1093/hmg/ddt641

المؤلفون: Torres-Torronteras J., Viscomi C., Cabrera-Perez R., Camara Y., Di Meo I., Barquinero J., Auricchio A., Pizzorno G., Hirano M., Zeviani M., Marti R.

المساهمون: Torres-Torronteras, J., Viscomi, C., Cabrera-Perez, R., Camara, Y., Di Meo, I., Barquinero, J., Auricchio, A., Pizzorno, G., Hirano, M., Zeviani, M., Marti, R.

مصطلحات موضوعية: Animal, DNA, Mitochondrial, Dependoviru, Disease Models, Genetic Vector, Homeostasi, Human, Intestinal Pseudo-Obstruction, Liver, Mice, Mitochondrial Encephalomyopathie, Muscular Dystrophy, Oculopharyngeal, Mutation, Thymidine, Thymidine Phosphorylase, Genetic Therapy

Relation: info:eu-repo/semantics/altIdentifier/pmid/24448160; info:eu-repo/semantics/altIdentifier/wos/WOS:000335421500004; volume:22; issue:5; firstpage:901; lastpage:907; numberofpages:7; journal:MOLECULAR THERAPY; http://hdl.handle.net/11577/3321383; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899994577; https://www.journals.elsevier.com/molecular-therapy

الاتاحة: http://hdl.handle.net/11577/3321383
https://doi.org/10.1038/mt.2014.6
https://www.journals.elsevier.com/molecular-therapy

المؤلفون: Blázquez-Bermejo, C., Torres-Torronteras, J., Cabrera, R., Lombès, A., Martí, R., Cámara, Y.

المصدر: Neuromuscular Disorders ; volume 26, page S177 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.06.332
https://api.elsevier.com/content/article/PII:S0960896616306253?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896616306253?httpAccept=text/plain

المؤلفون: de Coo, I. F. M., Wagemaker, G., van Til, N. P., Marti, R., Barquinero, J., Bernsen, M., Haeck, J. C., Ruijter, G. J. G., Bogaerts, E., Cabrera-Perez, R., Torres-Torronteras, J., Yadak, R.

الاتاحة: https://avesis.hacettepe.edu.tr/publication/details/6c548e91-cfa3-49b7-8d96-b94501212817/oai