Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Victoria Cusí Sánchez"'
Autor:
Àngels Salvador Vergès, María Victoria Cusí Sánchez, Paz Bossio Grigera, Carles Fàbrega Agulló, Fernando Gomes da Costa, Adrià Serra Trullas, Abel García Abejas
Publikováno v:
Telemedicine and e-Health. 28:932-941
Autor:
Elena Martín Hernández, María Socorro Pérez-Poyato, Montserrat Milà, Laia Rodriguez-Revenga, Antonio Martínez Bermejo, Alfonso Verdú Pérez, Jesús Eiris Puñal, María J Martínez González, Isidre Ferrer Abizanda, M. Josep Coll Rosell, Mercé Pineda Marfa, Victoria Cusí Sánchez, M. Mar García González, Laura Gort
Publikováno v:
Journal of Child Neurology. 28:470-478
Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. The authors report the clinical outcome and correlate with genotype in 12 Spanish patients with this disease. Psychomot
Autor:
L. Rodriguez-Revenga, María-Socorro Pérez-Poyato, M. Mar García González, Mercé Pineda Marfa, Montserrat Milá Recansens, Ramón Velázquez Fragua, Antonio Martínez-Bermejo, Rafael Camino León, Rosario Domingo Jiménez, Victoria Cusí Sánchez, Raquel Montero Sánchez, Isidre Ferrer Abizanda
Publikováno v:
Journal of Inherited Metabolic Disease. 34:1083-1093
Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecul
Autor:
María del Socorro, Pérez-Poyato, Montserrat, Milà-Recasens, Isidre, Ferrer-Abizanda, Victoria, Cusí-Sánchez, María, Vázquez-López, Rafael, Camino-León, M Josep, Coll-Rosell, Laura, Gort, Mercè, Pineda-Marfà
Publikováno v:
Revista de neurologia. 54(9)
The neuronal ceroid lipofuscinosis are classified based on age at onset into four main clinical forms in child-hood: infantile, late infantile, juvenile and congenital (CLN1, CLN2, CLN3 and CLN10). The variant late infantile forms (CLN5, CLN6, CLN7 a
Autor:
Eulàlia, Turón-Viñas, Anna, López-Casas, Andrea, Palacio-Navarro, Antonio, Donaire, Gemma, García-Fructuoso, Jordi, Rumià, Victoria, Cusí-Sánchez, Francesc X, Sanmartí
Publikováno v:
Revista de neurologia. 51(8)
The epilepsy monitoring unit is a space inside a hospital, which objective is to reproduce epileptic seizures in order to better study of an epileptic patient. We have analysed data from all the patients admitted to our pediatric epilepsy unit in the
Autor:
Andrea Palacio-Navarro, Jordi Rumià, Victoria Cusí-Sánchez, Eulàlia Turón-Viñas, Gemma García-Fructuoso, Anna López-Casas, Francesc Sanmartí, Antonio Donaire
Publikováno v:
Revista de Neurología. 51:451
Introduccion y objetivos. La unidad de monitorizacion continua videoelectroencefalografica (video-EEG) es una zona dentro del ambito hospitalario cuyo objetivo es intentar reproducir el mayor numero de crisis en un paciente para su estudio. Hemos rea
Autor:
Salvador Vergès, Àngels, Cusí Sánchez, María Victoria, Bossio Grigera, Paz, Fàbrega Agulló, Carles, Gomes da Costa, Fernando, Serra Trullas, Adrià, García Abejas, Abel
Publikováno v:
Telemedicine & e-Health; Jul2022, Vol. 28 Issue 7, p932-941, 10p
Autor:
Pérez-Poyato, María S., Marfa, Mercé Pineda, Abizanda, Isidre Ferrer, Rodriguez-Revenga, Laia, Sánchez, Victoria Cusí, González, María J Martínez, Puñal, Jesús Eiris, Pérez, Alfonso Verdú, González, M Mar García, Bermejo, Antonio Martínez, Hernández, Elena Martín, Rosell, M Josep Coll, Gort, Laura, Milá, Montserrat
Publikováno v:
Journal of Child Neurology; Apr2013, Vol. 28 Issue 4, p470-478, 9p