Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Rafael Artuch"'
Autor:
Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148709 (2016)
BACKGROUND:We previously described increased levels of growth and differentiation factor 15 (GDF-15) in skeletal muscle and serum of patients with mitochondrial diseases. Here we evaluated GDF-15 as a biomarker for mitochondrial diseases affecting ch
Externí odkaz:
https://doaj.org/article/30b50934a31046c69010ef0f87d1343d
Autor:
Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0156359 (2016)
Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for
Externí odkaz:
https://doaj.org/article/5c1a46fdcc78496db7ff723af9043709
Autor:
Marta Molero-Luis, Sergio Fernández-Ureña, Iolanda Jordán, Mercedes Serrano, Aida Ormazábal, Àngels Garcia-Cazorla, Rafael Artuch, Neopterin Working Group
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e83237 (2013)
ObjectiveA high level of cerebrospinal fluid (CSF) neopterin is a marker of central nervous system inflammatory-immune mediated processes. We aimed to assess data from 606 neuropediatric patients, describing the clinical and biochemical features of t
Externí odkaz:
https://doaj.org/article/071d2a441a7944f2a72b805dfeb839f6
Autor:
Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez, Maria del Mar O'Callaghan, Antonina Pereira, Francesc Sanmartí, Aida Ormazábal, Rafael Artuch, Mercedes Pineda, Angels García-Cazorla
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e68851 (2013)
OBJECTIVE: Rett Syndrome is a progressive neurodevelopmental disorder caused mainly by mutations in the gene encoding methyl-CpG-binding protein 2. The relevance of MeCP2 for GABAergic function was previously documented in animal models. In these mod
Externí odkaz:
https://doaj.org/article/0903d7fb69164267b1335bb532e7abdc