المؤلفون: Costa Valarezo, A., Gómez Caravaca, M., Rodríguez Navas, S., Rivas Infante, E.

المصدر: Neurology Perspectives ; volume 4, page 239 ; ISSN 2667-0496

الاتاحة: https://doi.org/10.1016/s2667-0496(24)00819-6
https://api.elsevier.com/content/article/PII:S2667049624008196?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2667049624008196?httpAccept=text/plain

المؤلفون: Luque Ambrosiani, A., Rivas Infante, E., Gómez Fernández, F., Rojas-Marcos Rodríguez-Quesada, I., Cabrera Serrano, M., Paradas López, C.

المصدر: Neurology Perspectives ; volume 4, page 236 ; ISSN 2667-0496

الاتاحة: https://doi.org/10.1016/s2667-0496(24)00808-1
https://api.elsevier.com/content/article/PII:S2667049624008081?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2667049624008081?httpAccept=text/plain

المؤلفون: Ortega Hiraldo, C., Carbonell Corvillo, P., Rivas Infante, E., Romero Godoy, J., Gómez González, A., Aguilar Monge, A.

المصدر: Neurology Perspectives ; volume 4, page 235-236 ; ISSN 2667-0496

الاتاحة: https://doi.org/10.1016/s2667-0496(24)00807-x
https://api.elsevier.com/content/article/PII:S266704962400807X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S266704962400807X?httpAccept=text/plain

المؤلفون: Romero-Fábrega, J.C., Lorenzo-López, R., Rivas-Infante, E., Escamilla-Sevilla, F., Rashki, M., Mínguez-Castellanos, A., Carvajal-Hernández, A.

المصدر: Neurología (English Edition) ; volume 39, issue 9, page 820-823 ; ISSN 2173-5808

الاتاحة: https://doi.org/10.1016/j.nrleng.2024.02.005
https://api.elsevier.com/content/article/PII:S2173580824000439?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2173580824000439?httpAccept=text/plain

المؤلفون: Romero-Fábrega, J.C., Lorenzo-López, R., Rivas-Infante, E., Escamilla-Sevilla, F., Rashki, M., Mínguez-Castellanos, A., Carvajal-Hernández, A.

المصدر: Neurología ; ISSN 0213-4853

الاتاحة: http://dx.doi.org/10.1016/j.nrl.2023.05.004
https://api.elsevier.com/content/article/PII:S0213485324000586?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0213485324000586?httpAccept=text/plain

المؤلفون: Romero-Fábrega, J.C., Lorenzo-López, R., Rivas-Infante, E., Escamilla-Sevilla, F., Rashki, M., Mínguez-Castellanos, A., Carvajal-Hernández, A.

المصدر: Neurología; November-December 2024, Vol. 39 Issue: 9 p820-823, 4p

المؤلفون: Servián-Morilla, E, Cabrera-Serrano, M, Rivas-Infante, E, Carvajal, A, Lamont, P J, Pelayo-Negro, A L, Ravenscroft, G, Junckerstorff, R, Dyke, J M, Fletcher, S, Adams, A M, Mavillard, F, Fernández-García, M A, Nieto-González, J L, Laing, N G, Paradas, C

مصطلحات موضوعية: Autophagy, E3 ubiquitin -ligase, Muscle dystrophy, Proliferation/differentiation, TRIM32, Adult, Aged, Cells, Cultured, Cellular Senescence, Female, Humans, Male, Middle Aged, Muscle Development, Muscular Diseases, Myoblasts, Pedigree, Transcription Factors, Tripartite Motif Proteins, Ubiquitin-Protein Ligases

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10668/13648; PMC6396567; https://doi.org/10.1186/s40478-019-0683-9; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396567/pdf

الاتاحة: http://hdl.handle.net/10668/13648
https://doi.org/10.1186/s40478-019-0683-9
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396567/pdf

المؤلفون: Diaz-Manera, J., Monceau, A., Gokul-Nath, R., Musumeci, O., Toscano, A., Papadimas, G., Kierdaszuk, B., Kostera-Pruszczyk, A., Paradas, C., Rivas-Infante, E., Dominguez, C., Hernandez-Lain, A., Lileker, J., Roberts, M., Suarez-Calvet, X.

المصدر: Neuromuscular Disorders ; volume 33, page S67 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.015
https://api.elsevier.com/content/article/PII:S0960896623001955?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623001955?httpAccept=text/plain

المؤلفون: Carbonell-Corvillo, P, Tristán-Clavijo, E, Cabrera-Serrano, M, Servián-Morilla, E, García-Martín, G, Villarreal-Pérez, L, Rivas-Infante, E, Area-Gómez, E, Chamorro-Muñoz, M I, Gil-Gálvez, A, Miranda-Vizuete, A, Martinez-Mir, A, Laing, N, Paradas, C

مصطلحات موضوعية: Distal myopathy, Founder mutation, Genetic linkage analysis, MYH7, Muscle MRI, Adolescent, Adult, Aged, Cardiac Myosins, Child, Diagnosis, Differential, Distal Myopathies, Family, Female, Haplotypes, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal, Mutation, Myosin Heavy Chains, Phenotype, Polymorphism, Single Nucleotide, Spain, Young Adult

Relation: http://hdl.handle.net/10668/12885; https://api.research-repository.uwa.edu.au/ws/files/34869360/Carbonell_Corvillo_et_al_2018_A_novel_MYH7.pdf

الاتاحة: http://hdl.handle.net/10668/12885
https://doi.org/10.1016/j.nmd.2018.07.006
https://api.research-repository.uwa.edu.au/ws/files/34869360/Carbonell_Corvillo_et_al_2018_A_novel_MYH7.pdf

المؤلفون: González‐Mera, L., Ravenscroft, G., Cabrera‐Serrano, M., Ermolova, N., Domínguez‐González, C., Arteche‐López, A., Soltanzadeh, P., Evesson, F., Navas, C., Mavillard, F., Clayton, J., Rodrigo, P., Servián‐Morilla, E., Cooper, S. T, Waddell, L., Reardon, K., Corbett, A., Hernandez‐Laín, A., Sanchez, A., Esteban Perez, J., Paradas‐Lopez, C., Rivas‐Infante, E., Spencer, M., Laing, N., Olivé, M.

المصدر: Neuropathology and Applied Neurobiology ; volume 47, issue 2, page 283-296 ; ISSN 0305-1846 1365-2990

الاتاحة: http://dx.doi.org/10.1111/nan.12663
https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12663
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/nan.12663

المؤلفون: Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P.J., Pelayo-Negro, A.L., Ravenscroft, G., Junckerstorff, R., Dyke, J.M., Fletcher, S., Adams, A.M., Mavillard, F., Fernández-García, M.A., Nieto-González, J.L., Laing, N.G., Paradas, C.

المصدر: Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P.J., Pelayo-Negro, A.L., Ravenscroft, G., Junckerstorff, R., Dyke, J.M., Fletcher, S. , Adams, A.M. , Mavillard, F., Fernández-García, M.A., Nieto-González, J.L., Laing, N.G. and Paradas, C. (2019) Altered myogenesis and premature senescence underlie human TRIM32-related myopathy. Acta Neuropathologica Communications, 7 (1).

Relation: https://researchrepository.murdoch.edu.au/id/eprint/44017/; full_text_status:public

الاتاحة: https://researchrepository.murdoch.edu.au/id/eprint/44017/

المؤلفون: Yubero, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Rodriguez Aguilera JC, Hargreaves IP, Navas P, Artuch R, CoQ deficiency study group, Jou C, Jimenez Mallebrera C, Nascimento A, Pérez Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé Grau A, Garcia Villoria J, Arias A, Emperador S, Ruiz Pesini E, Lopez Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González Quintana A, Delmiro A, Domínguez González C, Arenas J, García Silva MT, Martín E, Quijada P, Hernández Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez Cuesta A, Cascajo MV, Alcázar M, Brea Calvo G., TREVISSON, EVA, SALVIATI, LEONARDO

المساهمون: Yubero, Montero, R, Martín, Ma, Montoya, J, Ribes, A, Grazina, M, Trevisson, Eva, Rodriguez Aguilera, Jc, Hargreaves, Ip, Salviati, Leonardo, Navas, P, Artuch, R, CoQ deficiency study, Group, Jou, C, Jimenez Mallebrera, C, Nascimento, A, Pérez Dueñas, B, Ortez C, Ramos F, Colomer, J, O'Callaghan, M, Pineda, M, García Cazorla, A, Espinós, C, Ruiz, A, Macaya, A, Marcé Grau, A, Garcia Villoria, J, Arias, A, Emperador, S, Ruiz Pesini, E, Lopez Gallardo, E, Neergheen, V, Simões, M, Diogo, L, Blázquez, A, González Quintana, A, Delmiro, A, Domínguez González, C, Arenas, J, García Silva, Mt, Martín, E, Quijada, P, Hernández Laín, A, Morán, M, Rivas Infante, E, Ávila Polo, R, Paradas Lópe, C, Bautista Lorite, J, Martínez Fernández, Em, Cortés, Ab, Sánchez Cuesta, A, Cascajo, Mv, Alcázar, M, Brea Calvo, G.

مصطلحات موضوعية: Coenzyme Q10, mitochondrial disorders, oxidative phosphorylation, Coenzyme Q10 deficiency

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27374853; info:eu-repo/semantics/altIdentifier/wos/WOS:000384037300007; volume:30; firstpage:51; lastpage:58; numberofpages:8; journal:MITOCHONDRION; http://hdl.handle.net/11577/3220334; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978159513; https://www.ncbi.nlm.nih.gov/pubmed/27374853

الاتاحة: http://hdl.handle.net/11577/3220334
https://www.ncbi.nlm.nih.gov/pubmed/27374853

المؤلفون: Servián-Morilla, E., Cabrera-Serrano, M., Takeuchi, H., Muelas, N., Rivas-Infante, E., Cantero, G., Mavillard, F., Vilchez, J., Paradas, C.

المصدر: Neuromuscular Disorders ; volume 27, page S109-S110 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2017.06.068
https://api.elsevier.com/content/article/PII:S0960896617306417?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896617306417?httpAccept=text/plain

المؤلفون: Cabrera-Serrano, M., Rivas-Infante, E., Mavillard, F., Morar, B., Comas, D., Carvajal, A., Avila, R., Muelas, N., Olive, M., Diaz, J., Verges, E., Romero, N., Laporte, J., Vilchez, J., Laing, N., Kalaydjieva, L., Paradas, C.

المصدر: Neuromuscular Disorders ; volume 27, page S172-S173 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2017.06.288
https://api.elsevier.com/content/article/PII:S0960896617308611?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896617308611?httpAccept=text/plain

المؤلفون: Rojas-Medina, L. M., Carrasco-Moro, R., Rivero-Garvía, M., Esteban-Fernández, L., Rivas-Infante, E., Márquez-Rivas, J.

المصدر: Child's Nervous System ; volume 32, issue 9, page 1577-1585 ; ISSN 0256-7040 1433-0350

الاتاحة: http://dx.doi.org/10.1007/s00381-016-3126-y
http://link.springer.com/content/pdf/10.1007/s00381-016-3126-y.pdf
http://link.springer.com/article/10.1007/s00381-016-3126-y/fulltext.html

المؤلفون: Adarmes Gómez, A., Servián Morilla, E., Rivas Infante, E., Muñoz Cabello, B., Carbonell Corvillo, P., Villarreal Pérez, L., Martínez Fernández, E., Fernández Ramos, J., Arrabal Fernández, L., Ley Martos, M., Márquez Infante, C., Madruga Garrido, M., Paradas López, C.

المصدر: Neuromuscular Disorders ; volume 26, page S163 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.06.280
https://api.elsevier.com/content/article/PII:S0960896616305739?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896616305739?httpAccept=text/plain

المؤلفون: Lebrato-Hernandez, L., Rivas-Infante, E., Cortes-Rodriguez, A., Carbonell-Corvillo, P., Villareal-Perez, L., Marquez-Infante, C., Rojas-Marcos, I., Martinez-Fernandez, E., Carvajal-Hernandez, A., Cascajo-Almenara, M., Martin-Casanueva, M., Rodriguez-Aguilera, J., Paradas-Lopez, C.

المصدر: Neuromuscular Disorders ; volume 26, page S179 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.06.337
https://api.elsevier.com/content/article/PII:S0960896616306307?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896616306307?httpAccept=text/plain

المؤلفون: Morgado Linares, R., Rivas Infante, E., Avila Polo, R., Paradas Lopez, C.

المصدر: Neuromuscular Disorders ; volume 26, page S150 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.06.233
https://api.elsevier.com/content/article/PII:S0960896616305260?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896616305260?httpAccept=text/plain

المؤلفون: Carbonell Corvillo, P., Servián-Morilla, E., Tristán Clavijo, E., Gil-Gálvez, A., García Martín, G., Rivas Infante, E., Villarreal Pérez, L., Márquez Infante, C., Chamorro Muñoz, M., Cabrera Serrano, M., Miranda-Vizuete, A., Martínez Mir, A., Paradas López, C.

المصدر: Neuromuscular Disorders ; volume 26, page S173 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.06.317
https://api.elsevier.com/content/article/PII:S0960896616306101?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896616306101?httpAccept=text/plain

المؤلفون: Servian-Morilla, E., Carvajal, A., Rivas-Infante, E., Paradas, C.

المصدر: Neuromuscular Disorders ; volume 26, page S92 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.06.027
https://api.elsevier.com/content/article/PII:S0960896616303200?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896616303200?httpAccept=text/plain