Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Blanco-Barca Mo"'
Autor:
Nabbout, R, Belousova, E, Benedik, Mp, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, Damato, L, D'Augeres, Gb, de Vries, Pj, Ferreira, Jc, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, Ja, Macaya, A, Marques, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Jansen, A, Kingswood, Jc, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Valeryevich Belyaev, O, Agranovich, O, Vladislavovna Levitina, E, Vladimirovna Maksimova, Y, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P, Lee, H, Tsai, J, Chi, C, Huang, C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Thampratankul Krisnachai Chomtho, L, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Syrigou Papavasiliou, A, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Dhooghe, M, Verhelst, H, Roelens, F, Cecile Nassogne, M, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, De Saint Martin, A, Riquet, A, Milh, M, Cances, C, Pedespan, J, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Nguyen The Tich, S, Godet, B, Rojas, Mlrf, Planas, Jc, Bermejo, Am, Dura, Ps, Aparicio, Sr, Gonzalez, Mjm, Pison, Jl, Blanco Barca, Mo, Laso, El, Luengo, Oa, Rodriguez, Fja, Dieguez, Im, Salas, Ac, Carrera, Im, Salcedo, Em, Petri, Mey, Candela, Rc, Carrilho, Idc, Vieira, Jp, Monteiro, Jpdso, Leao, Mjsdof, Luis, Csmr, Pires Mendonca, C, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, Mp, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Bernardina, Bd, Burloiu, C, Cosma, Isb, Vintan, Ma, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Ann Johnston, C, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Sloerdahl, A, Solhoff, R, Jaatun, Msg, Mandera, M, Radzikowska, Ej, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R
Publikováno v:
Epilepsia Open
Summary Objective To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods Retrosp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0230368dd4d2223442bb9ce86b019b2f
http://hdl.handle.net/2108/212732
http://hdl.handle.net/2108/212732
Autor:
Blanco-Barca Mo, M I Novo-Rodríguez, Félix Camiña, Santiago Rodríguez-Segade, Manuel Castro-Gago, Jesús Eirís-Puñal, Carmen Gómez-Lado
Publikováno v:
Pediatric Neurology. 35:318-322
Five females with mitochondrial encephalomyopathies were treated for 3 to 7 years with a xanthine oxidase inhibitor (allopurinol, oral route, 20 mg/kg/day, in 2 or 3 doses daily). Clinical course was monitored in all patients. In addition, various me
Autor:
Javier Rodríguez-García, Manuel Castro-Gago, Santiago Rodríguez-Segade, Jesús Eirís-Puñal, Blanco-Barca Mo, Adela Urisarri-Ruiz de Cortázar, M I Novo-Rodríguez
Publikováno v:
Journal of Child Neurology. 21:48-53
The concentration levels of serum lipids and lipoprotein (a) were measured in 20 children receiving carbamazepine, 25 children receiving valproic acid, and 5 children receiving phenobarbital at the following times: (1) during chronic treatment while
Autor:
M.C. Curros Novo, A. Alonso Martín, Jesús Eirís-Puñal, Blanco-Barca Mo, A. Álvarez Moreno, Manuel Castro-Gago
Publikováno v:
Anales de Pediatría, Vol 62, Iss 2, Pp 166-170 (2005)
Introducción: El síndrome de Aicardi-Goutières es una enfermedad neurodegenerativa de herencia autosómica recesiva, que se caracteriza por presentar encefalopatía grave y progresiva de inicio precoz, microcefalia evolutiva, disfunción piramidal
Autor:
Blanco-Barca Mo, Joaquín Arenas-Barbero, Jesús Eirís-Puñal, Carmen Gómez-Lado, Manuel Castro-Gago, Yolanda Campos-González
Publikováno v:
Braindevelopment. 31(4)
We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome. Review of the literature suggest that association of these two conditions is extremely rare.
Autor:
Jesús Eirís-Puñal, Mónica Grande-Seijo, Manuel Castro-Gago, Francisco Barros-Angueira, José María Iglesias-Meleiro, Blanco-Barca Mo
Publikováno v:
Journal of child neurology. 20(1)
We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a nonconsanguineous couple without relevant antecedents. Speci
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Servizo Galego de Saúde (SERGAS)
Publikováno v:
Neuropediatrics. 40:152-152
Autor:
M. Fuster-Siebert, Jesús Eirís-Puñal, J.M. Iglesias-Meleiro, Blanco-Barca Mo, A. Ansede, Francisco Barros-Angueira, Manuel Castro-Gago
Publikováno v:
Revista de Neurología. 37:601
Introduction. The microdeletion 22q11.2 affects 1/4000 live births and constitutes the most frequent interstitial chromosomal alteration in humans. It is involved in a heterogeneous series of phenotypic expressions. Aims. To determine the most import
Autor:
M I Novo-Rodríguez, Adela Alonso, Joaquín Arenas, Blanco-Barca Mo, Yolanda Campos, Manuel Castro-Gago, Jesús Eirís-Puñal, Pintos-Martínez E
Publikováno v:
Revista de Neurología. 36:1026
Introduccion. La lipomatosis simetrica multiple (LSM), de predominio en varones de mediana edad, se caracteriza por acumulos de grasa en el cuello, los hombros y otras partes del tronco, y se asocia, en ocasiones, a diferentes manifestaciones neurolo