المؤلفون: Marques, R, Belousoye, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Jansen, AC, Shinohara, N, LIorie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, 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-L, Lee, H-F, Tsai, J-D, Chi, C-S, Huang, C-C, Riney, AK, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Vergeer, AMM, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, ADS, Riquet, A, Milh, M, Cances, C, Pedespan, J-M, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Tich, SNT, Godet, B, Falco Rojas, MLR, Campistol Planas, J, Martinez Bermejo, A, Smeyers Dura, P, Roldan Aparicio, S, Martinez Gonzalez, MJ, Lopez Pison, J, Blanco Barca, MO, Lopez Laso, E, Alonso Luengo, O, Aguirre Rodriguez, FJ, Malaga Dieguez, I, Camacho Salas, A, Marti Carrera, I, Martinez Salcedo, E, Yoldi Petri, ME, Cancho Candela, R, Carrilho, IDC, Vieira, JP, da Silva Oliveira Monteiro, JP, de Oliveira Ferreira Leao, MJS, Marceano Ribeiro Luis, CS, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Laberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, Sloerdahi, 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

المصدر: Frontiers in Neurology , 10 , Article 1144. (2019)

مصطلحات موضوعية: TSC, resource use, TOSCA, management, registry, rare diseases

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10086259/1/fneur-10-01144.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10086259Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10086259/1/fneur-10-01144.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10086259Test/

المؤلفون: Jansen, AC, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, 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-L, Lee, H-F, Tsai, J-D, Chi, C-S, Huang, C-C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Vergeer, AMH, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, ADS, Riquet, A, Milh, M, Cances, C, Pedespan, J-M, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Sylvie, NTT, Godet, B, Falco Rojas, MLR, Campistol Planas, J, Martinez Bermejo, A, Smeyers Dura, P, Roldan Aparicio, S, Martinez Gonzalez, MJ, Lopez Pison, J, Blanco Barca, MO, Lopez Laso, E, Alonso Luengo, O, Aguirre Rodriguez, FJ, Malaga Dieguez, I, Camacho Salas, A, Marti Carrera, I, Martinez Salcedo, E, Yoldi Petri, ME, Cancho Candela, R, Carrilho, IDC, Vieira, JP, da Silva Oliveira Monteiro, JP, de Oliveira Ferreira Leao, MJS, Marceano Ribeiro Luis, CS, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Dahlin, M, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, 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

المصدر: Frontiers in Neurology , 10 , Article 821. (2019)

مصطلحات موضوعية: mTOR, registry, SEGA, TOSCA, tuberous sclerosis complex

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10080432/1/fneur-10-00821.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10080432Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10080432/1/fneur-10-00821.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10080432Test/

المؤلفون: Aguilera-Albesa, S, Díez-Bayona, V, Yoldi-Petri, ME, Esparza-Estáun, J, Durá-Travé, T, Elduayen-Aldaz, B, Ramos-Arroyo, MA, Gibbons, RJ

المصدر: European Journal of Paediatric Neurology ; volume 17, page S123-S124 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(13)70435-5
https://api.elsevier.com/content/article/PII:S1090379813704355?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379813704355?httpAccept=text/plainTest

المؤلفون: Aguilera-Albesa, S, Zarikian-Denis, S, Moreno-Galarraga, L, Yoldi-Petri, ME, Durá-Travé, T, Herranz-Aguirre, M, Ocio-Ocio, I, Díez-Bayona, V, Molina-Garicano, J

المصدر: European Journal of Paediatric Neurology ; volume 17, page S87 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(13)70303-9
https://api.elsevier.com/content/article/PII:S1090379813703039?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379813703039?httpAccept=text/plainTest

المؤلفون: Durá Travé, T, Yoldi Petri, ME

المصدر: Anales de Pediatría ; volume 64, issue 1, page 28-33 ; ISSN 1695-4033 1696-4608

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1157/13083829Test
http://api.elsevier.com/content/article/PII:13003637?httpAccept=text/xmlTest
http://api.elsevier.com/content/article/PII:13003637?httpAccept=text/plainTest

المؤلفون: Durá Travé, T, Yoldi Petri, ME, García Mata, S, Baranda Areta, V

المصدر: Anales de Pediatría ; volume 60, issue 2, page 185-186 ; ISSN 1695-4033 1696-4608

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1157/13056922Test
http://api.elsevier.com/content/article/PII:13002556?httpAccept=text/xmlTest
http://api.elsevier.com/content/article/PII:13002556?httpAccept=text/plainTest

المؤلفون: Durá Travé, T, Yoldi Petri, ME, Bernaola Iturbe, E, Hernández Lagunas, T

المصدر: Anales de Pediatría ; volume 59, issue 5, page 504-506 ; ISSN 1695-4033 1696-4608

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1157/13053378Test
http://api.elsevier.com/content/article/PII:13002410?httpAccept=text/xmlTest
http://api.elsevier.com/content/article/PII:13002410?httpAccept=text/plainTest

المؤلفون: Yoldi Petri, ME, Durá Travé, T, Hernández Lagunas, T

المصدر: Anales de Pediatría ; volume 59, issue 6, page 590-594 ; ISSN 1695-4033 1696-4608

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1157/13054343Test
http://api.elsevier.com/content/article/PII:13002449?httpAccept=text/xmlTest
http://api.elsevier.com/content/article/PII:13002449?httpAccept=text/plainTest

المؤلفون: Yoldi-Petri Me, Durá-Travé T

المصدر: Revista de Neurología. 38:1123

مصطلحات موضوعية: Neurology (clinical), General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1466ce7152d56a3809160e01bebeca14Test
https://doi.org/10.33588/rn.3812.2003607Test

المؤلفون: Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Perez Dueñas, Belen

المساهمون: Institut Català de la Salut, Sancho P, Martínez-Rubio D Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. Andrés-Bordería A Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain. Gorría-Redondo N, Yoldi-Petri ME Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain. Pérez-Dueñas B Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Sistema nerviós - Degeneració - Aspectes genètics, DISEASES::Nervous System Diseases::Neurodegenerative Diseases, Other subheadings::Other subheadings::Other subheadings::/genetics, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Cerebellar Ataxia, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades neurodegenerativas, Otros calificadores::Otros calificadores::Otros calificadores::/genética, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::ataxia cerebelosa

وصف الملف: application/pdf

العلاقة: International Journal of Molecular Sciences;22(5); https://doi.org/10.3390/ijms22052505Test; info:eu-repo/grantAgreement/ES/PE2013-2016/PI18%2F00147; Sancho P, Andrés-Bordería A, Gorría-Redondo N, Llano K, Martínez-Rubio D, Yoldi-Petri ME, et al. Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. Int J Mol Sci. 2021 Mar 2;22(5):2505.; https://hdl.handle.net/11351/6571Test; 000628287200001

الإتاحة: https://doi.org/10.3390/ijms22052505Test
https://hdl.handle.net/11351/6571Test