Zobrazeno 1 - 10
of 352
pro vyhledávání: '"Marmiesse, A."'
Autor:
Roca, Iria, González-Castro, Lorena, Maynou, Joan, Palacios, Lourdes, Fernández, Helena, Couce, Mª Luz, Fernández-Marmiesse, Ana
Publikováno v:
In Genomics March 2020 112(2):1245-1256
Autor:
Fernández-Marmiesse, Ana, Sánchez-Iglesias, Sofía, Darling, Alejandra, O'Callaghan, María M., Tonda, Raúl, Jou, Cristina, Araújo-Vilar, David
Publikováno v:
In Seizure: European Journal of Epilepsy October 2019 71:161-165
Publikováno v:
Neurología (English Edition), Vol 35, Iss 7, Pp 510-512 (2020)
Externí odkaz:
https://doaj.org/article/9cecc277052e47fca4002111fd81ee11
Publikováno v:
Neurología, Vol 35, Iss 7, Pp 510-512 (2020)
Externí odkaz:
https://doaj.org/article/6990e35a4000466e84d06f3172560778
Autor:
Roca, Iria, González-Castro, Lorena, Fernández, Helena, Couce, Mª Luz, Fernández-Marmiesse, Ana
Publikováno v:
In Mutation Research-Reviews in Mutation Research January-March 2019 779:114-125
Autor:
A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez, M. L. Couce
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of
Externí odkaz:
https://doaj.org/article/11fe1414954344928efb823a193fa0aa
Autor:
María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos, Rosaura Leis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecu
Externí odkaz:
https://doaj.org/article/8439bab5ceba4662af2233ded70cd93e
Autor:
Brosch, R., Gordon, S. V., Marmiesse, M., Brodin, P., Buchrieser, C., Eiglmeier, K., Garnier, T., Gutierrez, C., Hewinson, G., Kremer, K., Parsons, L. M., Pym, A. S., Samper, S., van Soolingen, D., Cole, S. T.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2002 Mar . 99(6), 3684-3689.
Externí odkaz:
https://www.jstor.org/stable/3058187
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
How pathogens maintain phenotypic robustness during infection is poorly understood. Here the authors couple the virulence regulatory network (VRN) of the pathogen R. solanacearum to a model of its metabolic network, and find that the VRN activates fu
Externí odkaz:
https://doaj.org/article/b9c74857e4914428bf5c350db3854c46
Autor:
Sonia Emperador, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Marti Iriondo, Eduardo Ruiz-Pesini, Angels García-Cazorla, Mercedes Gil-Campos, Rafael Artuch, Julio Montoya, María Pilar Bayona-Bafaluy
Publikováno v:
Frontiers in Genetics, Vol 10 (2020)
Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the pr
Externí odkaz:
https://doaj.org/article/3d23431fa04641679dcfda334d4bd917