Publicacions
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Duarte ST, Ortez-Gonzalez CI, Pérez A, Artuch-Iriberri R and Garcia-Cazorla A.
Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission
JOURNAL OF INHERITED METABOLIC DISEASE . 34(2): 523-528. Nº de cites: 7
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Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.
Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency
JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Nº de cites: 6
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Pitarch-Castellano I, Ortez-Gonzalez CI, Nascimento-Osorio A, Aguilera López P, Blanco Barca MO, Camacho-Salas A, García-Campos O, García-Jiménez MC, García-Romero M, Gómez-Andrés D, Grimalt-Calatayud MA, Hernández-Fabián A, Málaga-Diéguez I, Madruga-Garrido M, Marti-Carrera I, Martín-Viota L, Martínez-García MJ, Ramos-Fernández JM, Sánchez-Carpintero Abad R, Vázquez-Martín S and Giró-Perafita A.
Delphy study on epidemiology, clinical management, disease burden, and treatment in paediatric patients with Duchenne muscular dystrophy in Spain.
Neurologia . : 502007-502007.
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Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera-de Benito D, Maroofian R and Tartaglia M.
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
GENETICS IN MEDICINE . : 102558-102558.
