المؤلفون: Toledo, M., Poza, J.J., Becerra, J.L., Eirís, J., Fons, C., Rojas, M.L. Ruiz-Falcó, Roldán, S.

المصدر: Neurology Perspectives ; volume 4, issue 2, page 100155 ; ISSN 2667-0496

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1016/j.neurop.2024.100155Test
https://api.elsevier.com/content/article/PII:S2667049624000115?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2667049624000115?httpAccept=text/plainTest

المؤلفون: Fons, C.

المساهمون: Gould, A. P.

مصطلحات موضوعية: 573.8

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.790549Test

المؤلفون: Brunklaus, A, Bruenger, T, Feng, T, Fons, C, Lehikoinen, A, Panagiotakaki, E, Vintan, M-A, Symonds, J, Andrew, J, Arzimanoglou, A, Delima, S, Gallois, J, Hanrahan, D, Lesca, G, MacLeod, S, Marjanovic, D, McTague, A, Nunez-Enamorado, N, Perez-Palma, E, Scott Perry, M, Pysden, K, Russ-Hall, SJ, Scheffer, IE, Sully, K, Syrbe, S, Vaher, U, Velayutham, M, Vogt, J, Weiss, S, Wirrell, E, Zuberi, SM, Lal, D, Moller, RS, Mantegazza, M, Cestele, S

العلاقة: pii: 6606157; Brunklaus, A., Bruenger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M. -A., Symonds, J., Andrew, J., Arzimanoglou, A., Delima, S., Gallois, J., Hanrahan, D., Lesca, G., MacLeod, S., Marjanovic, D., McTague, A., Nunez-Enamorado, N., Perez-Palma, E. ,. Cestele, S. (2022). The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. BRAIN, 145 (11), pp.3816-3831. https://doi.org/10.1093/brain/awac210Test.; http://hdl.handle.net/11343/316392Test

الإتاحة: https://doi.org/10.1093/brain/awac210Test
http://hdl.handle.net/11343/316392Test

المؤلفون: Uchitel, J, Wallace, K, Tran, L, Abrahamsen, T, Hunanyan, A, Prange, L, Jasien, J, Caligiuri, L, Pratt, M, Rikard, B, Fons, C, De Grandis, E, Vezyroglou, A, Heinzen, EL, Goldstein, DB, Vavassori, R, Papadopoulou, MT, Cocco, I, Moré, R, Duke AHC Research Group, ., French AHC Consortium, ., Arzimanoglou, A, Panagiotakaki, E, Mikati, MA

المصدر: Brain Communications , 3 (3) , Article fcab128. (2021)

مصطلحات موضوعية: ATP1A3, alternating hemiplegia of childhood, disability, Mashlool D801N mouse, progression

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135838/1/Vezyroglou_Alternating%20hemiplegia%20of%20childhood-%20evolution%20over%20time%20and%20mouse%20model%20corroboration_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135838Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135838/1/Vezyroglou_Alternating%20hemiplegia%20of%20childhood-%20evolution%20over%20time%20and%20mouse%20model%20corroboration_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135838Test/

المؤلفون: Balestrini, S, Mikati, MA, Garcia-Roves, RA, Carboni, M, Hunanyan, AS, Kherallah, B, McLean, M, Prange, L, De Grandis, E, Gagliardi, A, Pisciotta, L, Stagnaro, M, Veneselli, E, Campistol, J, Fons, C, Pias-Peleteiro, L, Brashear, A, Miller, C, Samoes, R, Brankovic, V, Padiath, QS, Potic, A, Pilch, J, Vezyroglou, K, Bye, AME, Davis, AM, Ryan, MM, Semsarian, C, Hollingsworth, G, Scheffer, IE, Granata, T, Nardocci, N, Ragona, F, Arzimanoglou, A, Panagiotakaki, E, Carrilho, I, Zucca, C, Novy, J, Dzieżyc, K, Parowicz, M, Mazurkiewicz-Bełdzińska, M, Weckhuysen, S, Pons, R, Groppa, S, Sinden, DS, Pitt, GS, Tinker, A, Ashworth, M, Michalak, Z, Thom, M, Cross, JH, Vavassori, R, Kaski, JP, Sisodiya, SM

المصدر: Neurology , 95 (21) e2866-e2879. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10110385Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10110385Test/

المؤلفون: Casas-Alba D., Oliva C., Salgado M. D. C., Codina A., Agut T., Garcia-Alix A., Garcia-Puig M., Garcia-Cazorla A., Taglialatela M., Jou C., Artuch R., Fons C.

المساهمون: Casas-Alba, D., Oliva, C., Salgado, M. D. C., Codina, A., Agut, T., Garcia-Alix, A., Garcia-Puig, M., Garcia-Cazorla, A., Taglialatela, M., Jou, C., Artuch, R., Fons, C.

مصطلحات موضوعية: Cerebrospinal fluid ion, Choroid plexu, KCNQ2, Neonatal arterial ischemic stroke, Neonatal seizures

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000766270200003; volume:128; firstpage:16; lastpage:19; numberofpages:4; journal:PEDIATRIC NEUROLOGY; http://hdl.handle.net/11588/873028Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122618292; https://www.sciencedirect.com/science/article/pii/S0887899421002587?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2021.11.013Test
http://hdl.handle.net/11588/873028Test
https://www.sciencedirect.com/science/article/pii/S0887899421002587?via=ihubTest

المؤلفون: Borras, A., Delgadillo, V., Julia, N., Gonzalez, V., Armstrong, J., Yubero, D., Fons, C.

المصدر: Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) ; Neuropediatrics ; ISSN 1439-1899

الإتاحة: https://doi.org/10.1055/s-0042-1746213Test

المؤلفون: Panagiotakaki, E., De Grandis, E., Stagnaro M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium. Collaborators: Bassi MT, Borgatti R, Cernetti R, Di Rosa G, Franchini F, Gambardella A, Giacanelli M, Giannotta M, Gobbi G, Granata T, De Grandis E, Guerrini R, Gurrieri F, Incorpora G, Nardocci N, Neri G, Ragona F, Santucci M, Sartori S, Stagnaro M, Tiziano D, Vavassori R, Veneselli E, Vigevano F, Zucca C, Aicardi J, An I, Arbues AS, Arzimanoglou A, Bahi- Buisson N, Barthez MA, Billette de Villemeur T, Bourgeois M, Bru M, Chabrol B, Chaigne D, Chaunu MP, Chiron C, Cournelle AM, Davoine CS, De St Martin A, Deny B, Desguerres I, Des Portes V, Doummar D, Dulac O, Dusser A, Gerard M, Gitiaux C, Godet Kiesel I, Gokben S, Goutieres F, Guerrin MH, Heron-Longe B, Hubsch-Bonneaud C, Hully M, Husson M, Ioos Ch, Kaminska A, Laroche C, Lazaro L, Lepine A, Magy L, Marchal C, Michel J, Milh M, Motte J, Moutard ML, Napuri S, Nassogne MC, Neau JP, Nicole S, Panagiotakaki E, Passemard S, Pedespan JM, Penniello- Valette MJ, Poncelin D, Ponsot G, Poulat AL, Pouplard F, Rabilloud M, Riant F, Rivier F, Roelens P, Roubergue A, Sanlaville D, Tardieu M, Veyrieres S, de Grandis E, Fons C, Sisodiya S, de Jonghe P, Goubeau C, van den Maagdenberg AM, Mikati M, Scheffer I, Nevsimalova S, Kemlink D, Krepelova A, Kolnikova M, Sykora P, Kaski J, Hanna M, Houlden H, Ulate-Campos A, Cancho R, Eiris J, López-Laso E, Velázquez R, Carilho I, Ozelius L, Suls A, Ceulemans B, Buyse G, di Michele M, Ferrari M, Peeters-Scholte CM.

المساهمون: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC, Consortium, French AHC, Consortium, International AHC Consortium., Collaborators: Bassi MT, Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, A, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, C, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J

مصطلحات موضوعية: Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26410222; info:eu-repo/semantics/altIdentifier/wos/WOS:000361722500001; volume:10; issue:Article number 123; firstpage:1; lastpage:13; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11570/3162131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942433711; https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5Test

الإتاحة: https://doi.org/10.1186/s13023-015-0335-5Test
http://hdl.handle.net/11570/3162131Test

المؤلفون: Castro-Orós, I., Irún, P., Cebolla, J.J., Rodriguez-Sureda, V., Mallén, M., Pueyo, M.J., Mozas, P., Dominguez, C., Pocoví, M., Bustamante, A., Ortega, I.P., Rivera, P.M., Palomino, A., Caceres, M., Maestre, S.J., Calderon, E., Uranga, J.J.R., Lorite, J.B., Bustos, M.D.G., Moreno, J.M.G., Gonzalez, T.B., Muñoz, A., Acebal, M.R., Medina, R.C., Nieto, J.S., Nuñez, E., Sierra, C., Campos, M.G., Fernández de la Puebla, F., Sepulveda, J.J.O., Laso, E.L., Maestre, A., Martos, M.L., Zafra, P., Rosso, S.P., Rosso, R.E., Reyes, M.J.S., Fernandez, L.A., Moreno, A.O., Pardo, C.C., Martin, A., Poveda, J.A., Cantero, B.N., Ruiz, P.G., Rodrigo, M., Posada, I., Ferro, A.S., Jesús, Hernandez Gallego, Villarejo, A., San Martin, A.O.H., Perez, A.G., de Rivera, F.J.R., Sanz, I., Santos, F., Gutierrez-Solana, L., Fontan, C., Duque, S.C., Leal, R.M., Gamez, J., Santamaria, E., del Toro, M., Delgado, T., Lorente, I., Lleó, A., Pagonabarraga, J., Calvet, M.S., Turón, E., Moliner, E., Pascual, B., Almenar, C., Torralba, A.O., Floriach, R.M., Nilda, Venegas Bernal, Villegas, M.D.L., Giné, L.P., Nomdedeu, B., Martí, M.J., Domenech, M.T.B., Gascón, J., Costa, J., Fons, C., Pineda, M., Vidal, M.T.A., Mira, E., Tartari, J.P., Aparici, R.C., Sanchez, A.A., Codony, M.B., Alberti, M.A., Ripoll, G.P., Modol, R., Genis, D., Sivera, R., Costa, J.F.V., Martinez, I., Smeyers, P., Vila, T., Casanova, B., Miralles, F.C.P., Serra, J.D., Miñana, I.V., Merino, C.V., Garcia, R., Jorda, R.M.S., Clavel, J., Santana, C.L., Capablo, J.L., Gazulla, J., Padilla, P., Loureiro, C., Fdez-Balbuen, C., Arias, M., Rabuñal, M.J., Sobrido, M.J., Cia, M.T., Yoldi, M.E., Erro, M.E., Fontes, A., Axpe, I.R., Sasieta, F.J.E., Carlos, J., Esteban, G., Muñoz, J.A.S., Espinosa, N.R., Hernandez, M.A., Martin, I.T., Garrido, A.F., Aporta, R., Domingo, R., Naranjo, I.C., Gomez, M.A.R., Ferrer, G.A.

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/ES/FIS/PI12-01219; http://zaguan.unizar.es/record/60686Test

الإتاحة: https://doi.org/10.1186/s12967-017-1146-3Test
http://zaguan.unizar.es/record/60686Test

المؤلفون: Calvo, I., Pérez‐Cruz, M., Masoller, N., Illa, M., Monterde, E., Rebollo, M., Fons, C., Gomez‐Roig, M., Gratacós, E., Eixarch, E.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 60, issue S1, page 122-122 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.25339Test