المؤلفون: Gil-Nagel, A. (Antonio), Sanchez-Carpintero, R. (Rocío), Villanueva, V. (Vicente)

مصطلحات موضوعية: Epilepsy, Severity, Mortality, Mutations, Validation, Population, Comorbidities

وصف الملف: application/pdf

العلاقة: https://pubmed.ncbi.nlm.nih.gov/36849632Test/; https://hdl.handle.net/10171/67295Test

الإتاحة: https://hdl.handle.net/10171/67295Test

المؤلفون: Ricobaraza, A. (Ana), Buñuales, M. (María), Gonzalez-Aparicio, M. (Manuela), Fadila, S. (Saja), Rubinstein, M. (Moran), Vides-Urrestarazu, I. (Irene), Banderas, J. (Julliana), Sola-Sevilla, N. (Noemi), Sanchez-Carpintero, R. (Rocío), Lanciego, J.L. (José Luis), Roda, E. (Elvira), Honrubia, A. (Adriana), Arnaiz, P. (Patricia), Hernandez-Alcoceba, R. (Rubén)

مصطلحات موضوعية: Adenoviral vector, DP3V, Dlx, Dravet syndrome, Epileptic encephalopathy, ErbB4, GABAergic neuron, Nav1.1, SCN1A

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/10171/69352Test

الإتاحة: https://hdl.handle.net/10171/69352Test

المؤلفون: Aledo-Serrano, A. (Angel), Mingorance, A. (Ana), Villanueva, V. (Vicente), García-Peñas, J.J. (Juan José), Gil-Nagel, A. (Antonio), Boronat, S. (Susana), Aibar, J.A. (Jose Angel), Camara, S. (Silvia), Yaniz, M.J. (Maria Jose), Aras, L.M. (Luis Miguel), Blanco, B. (Barbara), Sanchez-Carpintero, R. (Rocío)

مصطلحات موضوعية: Neurodevelopment, Developmental and epileptic encephalopathies, Epilepsy, Genetic epilepsy, Caregivers, Patient-reported outcomes, SCN

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/10171/68907Test

الإتاحة: https://hdl.handle.net/10171/68907Test

المؤلفون: Wu, J.Y. (Joyce Y.), Cock, H.R. (Hanna R.), Devinsky, O. (Orrin), Joshi, C. (Charuta), Miller, I. (Ian), Roberts, C. (Colin), Sanchez-Carpintero, R. (Rocío), Checketts, D. (Daniel), Sahebkar, F. (Farhad)

مصطلحات موضوعية: Antiseizure medication, Cannabidiol, Epilepsy, Focal seizures, Medication-resistant seizures, Tuberous sclerosis complex

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/10171/68892Test

الإتاحة: https://hdl.handle.net/10171/68892Test

المؤلفون: Wu, JY, Cock, HR, Devinsky, O, Joshi, C, Miller, I, Roberts, CM, Sanchez-Carpintero, R, Checketts, D, Sahebkar, F

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114226/3/Epilepsia%20-%202022%20-%20Wu%20-%20Time%20to%20onset%20of%20cannabidiol%20treatment%20effect%20and%20resolution%20of%20adverse%20events%20in%20tuberous.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114226/8/epi17199-sup-0001-supinfo.docxTest; https://openaccess.sgul.ac.uk/id/eprint/114226/1/1521-Time%20to%20onset-Epilepsia%20Revised%20MS_Draft%201.0.docxTest; Wu, JY; Cock, HR; Devinsky, O; Joshi, C; Miller, I; Roberts, CM; Sanchez-Carpintero, R; Checketts, D; Sahebkar, F (2022) Time to onset of cannabidiol treatment effect and resolution of adverse events in tuberous sclerosis complex: Post hoc analysis of randomized controlled phase 3 trial GWPCARE6. Epilepsia, 63 (5). pp. 1189-1199. ISSN 1528-1167 https://doi.org/10.1111/epi.17199Test SGUL Authors: Cock, Hannah Rutherford

الإتاحة: https://doi.org/10.1111/epi.17199Test
https://openaccess.sgul.ac.uk/id/eprint/114226Test/
https://openaccess.sgul.ac.uk/id/eprint/114226/3/Epilepsia%20-%202022%20-%20Wu%20-%20Time%20to%20onset%20of%20cannabidiol%20treatment%20effect%20and%20resolution%20of%20adverse%20events%20in%20tuberous.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114226/8/epi17199-sup-0001-supinfo.docxTest
https://openaccess.sgul.ac.uk/id/eprint/114226/1/1521-Time%20to%20onset-Epilepsia%20Revised%20MS_Draft%201.0.docxTest

المؤلفون: Pelletier F., Perrier S., Cayami F. K., Mirchi A., Saikali S., Tran L. T., Ulrick N., Guerrero K., Rampakakis E., van Spaendonk R. M. L., Naidu S., Pohl D., Gibson W. T., Demos M., Goizet C., Tejera-Martin I., Potic A., Fogel B. L., Brais B., Sylvain M., Sebire G., Lourenco C. M., Bonkowsky J. L., Catsman-Berrevoets C., Pinto P. S., Tirupathi S., Stromme P., de Grauw T., Gieruszczak-Bialek D., Krageloh-Mann I., Mierzewska H., Philippi H., Rankin J., Atik T., Banwell B., Benko W. S., Blaschek A., Bley A., Boltshauser E., Bratkovic D., Brozova K., Cimas I., Clough C., Corenblum B., Dinopoulos A., Dolan G., Faletra F., Fernandez R., Fletcher J., Garcia Garcia M. E., Gasparini P., Gburek-Augustat J., Gonzalez Moron D., Hamati A., Harting I., Hertzberg C., Hill A., Hobson G. M., Innes A. M., Kauffman M., Kirwin S. M., Kluger G., Kolditz P., Kotzaeridou U., La Piana R., Liston E., McClintock W., McEntagart M., McKenzie F., Melancon S., Misbahuddin A., Suri M., Monton F. I., Moutton S., Murphy R. P. J., Nickel M., Onay H., Orcesi S., Ozkinay F., Patzer S., Pedro H., Pekic S., Pineda Marfa M., Pizzino A., Plecko B., Poll-The B. T., Popovic V., Rating D., Rioux M. -F., Rodriguez Espinosa N., Ronan A., Ostergaard J. R., Rossignol E., Sanchez-Carpintero R., Schossig A., Senbil N., Sonderberg Roos L. K., Stevens C. A., Synofzik M., Sztriha L., Tibussek D., Timmann D., Tonduti D., van de Warrenburg B. P., Vazquez-Lopez M., Venkateswaran S., Wasling P., Wassmer E., Webster R. I., Wiegand G., Yoon G., Rotteveel J., Schiffmann R., van der Knaap M. S., Vanderver A., Martos-Moreno G. A., Polychronakos C., Wolf N. I., Bernard G.

المساهمون: Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L.

مصطلحات موضوعية: 4H leukodystrophy, hypogonadotropic hypogonadism, hypomyelination, POLR3-related leukodystrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33005949; volume:106; issue:2; firstpage:e660; lastpage:e674; numberofpages:15; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; http://hdl.handle.net/11368/2980250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135Test

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
http://hdl.handle.net/11368/2980250Test
https://academic.oup.com/jcem/article/106/2/e660/5917135Test

المؤلفون: Scheffer, I.E. (Ingrid E.), Halford, J.J. (Jonathan J.), Miller, I. (Ian), Nabbout, R. (Rima), Sanchez-Carpintero, R. (Rocío), Shiloh-­Malawsky, Y. (Yael), Wong, M. (Matthew), Zolnowska, M. (Marta), Checketts, D. (Daniel), Dunayevich, E. (Eduardo), Devinsky, O. (Orrin)

مصطلحات موضوعية: Antiseizure medication, Cannabinoid, Childhood onset epilepsy, Convulsive seizures, Dravet syndrome

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/10171/68905Test

الإتاحة: https://hdl.handle.net/10171/68905Test

المؤلفون: Mora-Jiménez, L. (Lucía), Valencia, M. (Miguel), Sanchez-Carpintero, R. (Rocío), Tønnesen, J. (Jan), Fadila, S. (Saja), Rubinstein, M. (Moran), Gonzalez-Aparicio, M. (Manuela), Buñuales, M. (María), Fernandez-Pierola, E. (Eva), Nicolas, M.J. (María Jesús), Puerta, E. (Elena), Miguelez, C. (Cristina), Gimenez-Minguez, P. (Paula), Lumbreras, S. (Sara), González-Aseguinolaza, G. (Gloria), Ricobaraza, A. (Ana), Hernandez-Alcoceba, R. (Rubén)

مصطلحات موضوعية: SCN1A, Nav1.1, Dravet syndrome, Epilepsy, Encephalopathy, Adenovirus, Gene therapy

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/10171/63364Test

الإتاحة: https://hdl.handle.net/10171/63364Test

المؤلفون: Scheffer, IE, Halford, JJ, Miller, I, Nabbout, R, Sanchez-Carpintero, R, Shiloh-Malawsky, Y, Wong, M, Zolnowska, M, Checketts, D, Dunayevich, E, Devinsky, O

العلاقة: Scheffer, I. E., Halford, J. J., Miller, I., Nabbout, R., Sanchez-Carpintero, R., Shiloh-Malawsky, Y., Wong, M., Zolnowska, M., Checketts, D., Dunayevich, E. & Devinsky, O. (2021). Add-on cannabidiol in patients with Dravet syndrome: Results of a long-term open-label extension trial. EPILEPSIA, 62 (10), pp.2505-2517. https://doi.org/10.1111/epi.17036Test.; http://hdl.handle.net/11343/316409Test

الإتاحة: https://doi.org/10.1111/epi.17036Test
http://hdl.handle.net/11343/316409Test

المؤلفون: Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, RML, Naidu, S, Pohl, D, Gibson, WT, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, BL, Brais, B, Sylvain, M, Sébire, G, Lourenço, CM, Bonkowsky, JL, Catsman-Berrevoets, C, Pinto, PS, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, WS, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, ME, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, GM, Innes, AM, Kauffman, M, Kirwin, SM, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, FI, Moutton, S, Murphy, RPJ, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, BT, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, JR, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, LK, Stevens, CA, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, BP, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, RI, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, MS, Vanderver, A, Martos-Moreno, GÁ, Polychronakos, C, Wolf, NI, Bernard, G

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest; Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; et al. Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, M-F; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G (2021) Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106 (2). e660-e674. ISSN 1945-7197 https://doi.org/10.1210/clinem/dgaa700Test SGUL Authors: McEntagart, Meriel

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://openaccess.sgul.ac.uk/id/eprint/113253Test/
https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest