Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Carlos Ignacio Ortez González"'
Autor:
Cristina Skrypnyk, Abubaker Al Madani, Mohammed Jan, André Mégarbané, Khalid Al Thihli, Ali Al Shehri, Abdulaziz Al Saman, Mohammad Al Muhaizea, Waseem Fathalla, Andoni Urtizberea, Gholamreza Zamani, Sylvie Tuffery-Giraud, Carlos Ignacio Ortez González, Pawan Kashyape, Ahmed Al Rumayyan, Edward Cupler, Laila Bastaki, Mohammed Al Jumah, Gururaj Aithala Kodavooru
Publikováno v:
Neurodegenerative Disease Management
Aim: Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to addr
Autor:
Francisco V Carratala-Marco, Sabine Scholl-Bürgi, Carmen Jovaní Casano, Samuel Ignacio Pascual Pascual, Xenia Alonso, Carlos Ignacio Ortez González, Mercedes Serrano, Laura Blasco Pérez, Pablo Lapunzina, Neus Baena, Alfons Macaya Ruíz, Miquel Raspall-Chaure, Victoria San Antonio-Arce, Encarna Guillén-Navarro, Guillermo Antiñolo Gil
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
instname
Rett Working Group.
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology
Autor:
BELEN PEREZ DUEÑAS, LOURDES R DESVIAT, Rafael Artuch, Carlos Ignacio Ortez González, Mireia Tondo, Marta Molero, Mercedes Serrano, Bru Cormand
Publikováno v:
Developmental Medicine & Child Neurology. 55:559-566
Aim To determine the prevalence of dopaminergic abnormalities in 1388 children with neurological disorders, and to analyse their clinical, neuroradiological, and electrophysiological characteristics. Method We studied biogenic amines in 1388 cerebros
Publikováno v:
Anales de Pediatría Continuada. 11:98-103
Publikováno v:
Revista de Neurología. 57:212
Introduccion. La hemiplejia alternante de la infancia (HAI) es una enfermedad rara, caracterizada por episodios repetidos de hemiplejia que afectan alternativamente a un hemicuerpo, son de inicio preferente antes de los 18 meses, duran de minutos a v