Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Rafael Artuch"'
Autor:
Carmen Hernández-Ainsa, Ester López-Gallardo, María Concepción García-Jiménez, Francisco José Climent-Alcalá, Carmen Rodríguez-Vigil, Marta García Fernández de Villalta, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador
Publikováno v:
Disease Models & Mechanisms. 15
Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment
Autor:
Aurora Pujol, Sarah C. Grünert, Leigh B. Waddell, Cecilia Jimenez-Mallebrera, Ana Töpf, Frances J. Evesson, Antonia Ribes, Carlos Ortez, Daniel McArthur, Sandra T. Cooper, Charlotte L. Alston, Delia Yubero, Georgia Sarquella, Saikat Santra, Janbernd Kirschner, Agatha Schlüter, Rita Horvath, Kyle Thompson, Nicolai Kohlschmidt, Michael Champion, Hanns Lochmüller, Robert W. Taylor, Claudia Gross, Gina L. O’Grady, Maria del Mar O’Callaghan, Efsthatia Chronopoulou, M. A. Preece, Andrés Nascimento, Majumdar Anirban, Christian Turner, Denisa Hathazi, Germaine Pierre, Frederic Tort, Nadja Mingirulli, Raquel Montero, Sergei Korenev, Angela Pyle, Jennifer Duff, Andreas Roos, Angels García-Cazorla, Rafael Artuch, Plácido Navas, Cristina Jou
Publikováno v:
Journal of Inherited Metabolic Disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Mingirulli, N, Pyle, A, Hathazi, D, Alston, C L, Kohlschmidt, N, O'Grady, G, Waddell, L, Evesson, F, Cooper, S B T, Turner, C, Duff, J, Topf, A, Yubero, D, Jou, C, Nascimento, A, Ortez, C, García-Cazorla, A, Gross, C, O'Callaghan, M, Santra, S, Preece, M A, Champion, M, Korenev, S, Chronopoulou, E, Anirban, M, Pierre, G, McArthur, D, Thompson, K, Navas, P, Ribes, A, Tort, F, Schlüter, A, Pujol, A, Montero, R, Sarquella, G, Lochmüller, H, Jiménez-Mallebrera, C, Taylor, R W, Artuch, R, Kirschner, J, Grünert, S C, Roos, A & Horvath, R 2020, ' Clinical presentation and proteomic signature of patients with TANGO2 mutations ', Journal of Inherited Metabolic Disease, vol. 43, no. 2, pp. 297-308 . https://doi.org/10.1002/jimd.12156
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Mingirulli, N, Pyle, A, Hathazi, D, Alston, C L, Kohlschmidt, N, O'Grady, G, Waddell, L, Evesson, F, Cooper, S B T, Turner, C, Duff, J, Topf, A, Yubero, D, Jou, C, Nascimento, A, Ortez, C, García-Cazorla, A, Gross, C, O'Callaghan, M, Santra, S, Preece, M A, Champion, M, Korenev, S, Chronopoulou, E, Anirban, M, Pierre, G, McArthur, D, Thompson, K, Navas, P, Ribes, A, Tort, F, Schlüter, A, Pujol, A, Montero, R, Sarquella, G, Lochmüller, H, Jiménez-Mallebrera, C, Taylor, R W, Artuch, R, Kirschner, J, Grünert, S C, Roos, A & Horvath, R 2020, ' Clinical presentation and proteomic signature of patients with TANGO2 mutations ', Journal of Inherited Metabolic Disease, vol. 43, no. 2, pp. 297-308 . https://doi.org/10.1002/jimd.12156
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic acidosis, rhabdomyolysis,
Autor:
Andrés Nascimento, Josep Maria Grau-Junyent, Cecilia Jimenez-Mallebrera, Delia Yubero, Juan Darío Ortigoza-Escobar, Carmen Badosa, Selena Trifunov, Albert Català, Julio Montoya, Cristina Jou, Glòria Garrabou, A. Codina, Jordi Muchart, Raquel Montero, Abraham J Paredes-Fuentes, Angels García-Cazorla, Eduardo Ruiz-Pesini, Rafael Artuch, Maria del Mar O’Callaghan
Publikováno v:
Clinical chemistry. 67(8)
Background Mitochondrial diseases (MD) are genetic metabolic disorders that impair normal mitochondrial structure or function. The aim of this study was to investigate the status of circulating cell-free mitochondrial DNA (ccfmtDNA) in cerebrospinal
Autor:
C. Jimenez-Mallebrera, Cristina Domínguez-González, Selena Trifunov, Jordi Díaz-Manera, Carmen Badosa, Fabiola Mavillard, Julio Montoya, Itxaso Marti, Michio Hirano, Marcos Madruga-Garrido, Carmen Paradas, Raquel Montero, Daniel Cuadras, Rafael Artuch, Ramon Martí, Jorge Alonso-Pérez, Joan Villarroya, Andres Berardo, Susana G. Kalko, Yolanda Cámara, Miguel A. Martín, Andrés Nascimento, Eduardo Ruiz-Pesini, Carlos Ortez, Cora Blázquez-Bermejo, Francesc Villarroya
Publikováno v:
SCIENTIFIC REPORTS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Digital.CSIC. Repositorio Institucional del CSIC
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Consejo Superior de Investigaciones Científicas (CSIC)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Digital.CSIC. Repositorio Institucional del CSIC
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Consejo Superior de Investigaciones Científicas (CSIC)
GDF-15 is a biomarker for mitochondrial diseases. We investigated the application of GDF-15 as biomarker of disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21. GDF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a563d6d7a349db1a70fda0b22a12d0
http://zaguan.unizar.es/record/94553
http://zaguan.unizar.es/record/94553
Autor:
Angels García-Cazorla, Delia Yubero, Carlos Santos-Ocaña, Rafael Artuch, Abraham J Paredes-Fuentes, Raquel Montero, María Victoria Cascajo-Almenara, Natalia Juliá-Palacios
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Following an uneventful pregnancy, a boy was born from nonconsanguineous parents with no relevant family history. Within the first 24 hours after birth, he presented with cyanosis, lethargy, decreased spontaneous movements, hyperexcitability, and mil
Autor:
Marta Molero-Luis, Delia Yubero, Judith Armstrong-Moron, Julio Montoya, Daniel Cuadras, Mercedes Casado, Elisenda Cortès-Saladelafont, Angels García-Cazorla, Rafael Artuch
Publikováno v:
Developmental Medicine & Child Neurology. 60:780-792
Aim Gamma-aminobutyric acid (GABA) is a major modulator in brain maturation and its role in many different neurodevelopmental disorders has been widely reported. Although the involvement of GABA in different disorders has been related to its regulato
Autor:
María Domínguez Ruiz, Eulàlia Rovira-Moreno, María Vázquez López, María Nieves-Moreno, Miguel López de Heredia, Roser Urreizti, Carmen Orellana, Aurora Pujol, Eduardo Ruiz Pesini, Jorge Garcia-García, Marcello Bellusci, Matías Morín, Agatha Schluter, Julio Montoya Villarroya, Rafael Artuch, Gloria Garrabou, Sergio Aguilera-Albesa, Judit Garcia-Villoria, Gerard Muñoz-Pujol, Cristina Dominguez, Abraham Jose Paredes-Fuentes, Maria del Pilar Caamaño Vara, Francesc Palau, Barredo Estibaliz, Saoud Tahsin Swafiri Swafiri, Francisco Martinez, Juan Dario Ortigoza Escobar, Miguel Fernandez-Burriel, Marta Diñeiro, Frederic Tort, Francisco Martínez-Azorín, Susana Noval, Juan Cadiñanos, Encarna Guillén-Navarro, Patricia Fuentes Pita
Publikováno v:
Genes
Volume 12
Issue 10
Genes, Vol 12, Iss 1590, p 1590 (2021)
Volume 12
Issue 10
Genes, Vol 12, Iss 1590, p 1590 (2021)
The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged a nationwide call in Spain to obtain a global estimate of the numb
Autor:
Delia Yubero, Angels García-Cazorla, Rafael Artuch, Eduardo Ruiz-Pesini, María Pilar Bayona-Bafaluy, Sonia Emperador, Paula Gaudó, Julio Montoya, Nuria Garrido-Pérez
Publikováno v:
Neurogenetics. 21(1)
A 3-year-old girl presented with severe epilepsy in the context of Borrelia infection. After ceftriaxone/lidocaine administration, she showed secondarily generalized focal crises that led to neurological and motor sequelae. Genetic studies identified
Autor:
Marta Molero-Luis, Iain P. Hargreaves, Rafael Artuch, Shamima Rahman, Simon Heales, Sophie-Beth Aylett, Julio Montoya, Aida Ormazabal, Mercedes Casado
Publikováno v:
Drug Discovery Today. 20:1349-1354
Cellular folate metabolism is highly compartmentalized, with mitochondria folate transport and metabolism being distinct from the well-known cytosolic folate metabolism. There is evidence supporting the association between low folate status and mitoc
Autor:
Delia, Yubero, Raquel, Montero, Carlos, Santos-Ocaña, Leonardo, Salviati, Placido, Navas, Rafael, Artuch
Publikováno v:
Expert review of molecular diagnostics. 18(6)
Coenzyme Q