نتائج البحث - "Gruber‐Sedlmayr, Ursula"

المساهمون: Pechmann, Astrid, Baumann, Matthias, Bernert, Günther, Flotats-Bastardas, Marina, Gruber-Sedlmayr, Ursula, von der Hagen, Maja, Hasselmann, Oswald, Hobbiebrunken, Elke, Horber, Veronka, Johannsen, Jessika, Kirschner, Janbernd

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/137431Test

الإتاحة: https://doi.org/10.3233/JND-190441Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/137431Test

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4

دورية أكاديمية

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

المؤلفون: Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A.

المساهمون: Ministry of Health of the Czech Republic, Wellcome Trust, NHGRI, SFARI, Swiss National Science Foundation

المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 857-873 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.001Test
https://api.elsevier.com/content/article/PII:S0002929721001324?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721001324?httpAccept=text/plainTest

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5

دورية أكاديمية

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

المؤلفون: Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

المصدر: http://infoscience.epfl.ch/record/301941Test.

العلاقة: http://infoscience.epfl.ch/record/301941Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.001Test
http://infoscience.epfl.ch/record/301941Test

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6

دورية أكاديمية

Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the international TOSCA study

المؤلفون: Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., De, Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de Saint, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothée, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Falco Rojas, Maria Luz Ruiz, Campistol Planas, Jaume, Martinez Bermejo, Antonio, Smeyers Dura, Patricia, Roldan Aparicio, Susana, Martinez Gonzalez, Maria Jesus, Lopez Pison, Javier, Blanco Barca, Manuel Oscar, Lopez Laso, Eduardo, Alonso Luengo, Olga, Aguirre Rodriguez, Francisco Javier, Malaga Dieguez, Ignacio, Camacho Salas, Ana, Marti Carrera, Itxaso, Martinez Salcedo, Eduardo, Yoldi Petri, Maria Eugenia, Cancho Candela, Ramon, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Silva Oliveira Monteiro, Jose Paulo, Da, Oliveira Ferreira Leao, Miguel Jorge Santos, De, Marceano Ribeiro Luis, Catarina Sofia, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Dahlin, Maria, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina

المساهمون: Moscow Regional Research Clinical Institute (MONICA), Hôpital Louis Pradel CHU - HCL, Hospices Civils de Lyon (HCL), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Association Sclérose Tubéreuse de Bourneville (Gradignan), Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), University Medical Center Utrecht, Department of Neurology, University Hospital Patras, University Hospitals Leuven Leuven, CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Service de Neuro-pédiatrie Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Enfants CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de neurologie pédiatrique CHU de Bordeaux, CHU de Bordeaux Pellegrin Bordeaux, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré Paris, Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie Chateaulin, Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie CHU Limoges, CHU Limoges, Lithuanian University of health Sciences (LSMU), Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Universität Witten/Herdecke, St. George's Hospital, Danish Epilepsy Centre, Aarhus University Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University Toruń, Charité - UniversitätsMedizin = Charité - University Hospital Berlin, The International TOSCA Study

المصدر: ISSN: 1664-2295 ; Frontiers in Neurology ; https://u-picardie.hal.science/hal-03603520Test ; Frontiers in Neurology, 2019, 10, pp.821. ⟨10.3389/fneur.2019.00821⟩.

مصطلحات موضوعية: SEGA, TOSCA, mTOR, registry, tuberous sclerosis complex, [SDV]Life Sciences [q-bio]

العلاقة: hal-03603520; https://u-picardie.hal.science/hal-03603520Test; https://u-picardie.hal.science/hal-03603520/documentTest; https://u-picardie.hal.science/hal-03603520/file/fneur-10-00821.pdfTest; PUBMEDCENTRAL: PMC6688052

الإتاحة: https://doi.org/10.3389/fneur.2019.00821Test
https://u-picardie.hal.science/hal-03603520Test
https://u-picardie.hal.science/hal-03603520/documentTest
https://u-picardie.hal.science/hal-03603520/file/fneur-10-00821.pdfTest

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7

دورية أكاديمية

Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

المؤلفون: Karas, Antonina, Jiang, Yuwu, Zou, Liping, Xu, Kaifeng, Zhang, Yushi, Luan, Guoming, Zhang, Yuqin, Wang, Yi, Jin, Meiling, Ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, Yan, Bo, Deng, Yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Kate, Yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatz, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de St, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Rojas, Maria Luz Ruiz Falco, Planas, Jaume Campistol, Bermejo, Antonio Martinez, Dura, Patricia Smeyers, Aparicio, Susana Roldan, Gonzalez, Maria Jesus Martinez, Pison, Javier Lopez, Barca, Manuel Oscar Blanco, Laso, Eduardo Lopez, Luengo, Olga Alonso, Rodriguez, Francisco Javier Aguirre, Dieguez, Ignacio Malaga, Salas, Ana Camacho, Carrera, Itxaso Marti, Salcedo, Eduardo Martinez, Petri, Maria Eugenia Yoldi, Candela, Ramon Cancho, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Monteiro, Jose Paulo da Silva Oliveira, Leao, Miguel Jorge Santos de Oliveira Ferreira, Luis, Catarina Sofia Marceano Ribeiro, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberland, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., De, Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Shinohara, Nobuo, Horie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, Yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, Yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, Yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, Yulia Vladimirovna

المساهمون: Johns Hopkins University (JHU), Fudan University Shanghai, EED, University of California Los Angeles (UCLA), University of California (UC)-University of California (UC), Chimie pour la Reconnaissance et l’Etude d’Assemblages Biologiques (CREAB), SYstèmes Moléculaires et nanoMatériaux pour l’Energie et la Santé (SYMMES), Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 )-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 )-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Département Interfaces pour l'énergie, la Santé et l'Environnement (DIESE), Université Grenoble Alpes 2016-2019 (UGA 2016-2019 )-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), College of Computing (GATECH), Georgia Institute of Technology Atlanta, Institute for Human Genetics, Safra Children's Hospital, Department of Neurology, University Hospital Patras, University Hospitals Leuven Leuven, CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuro-pédiatrie Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Enfants CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de neurologie pédiatrique CHU de Bordeaux, CHU de Bordeaux Pellegrin Bordeaux, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie Chateaulin, Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie CHU Limoges, CHU Limoges, Lithuanian University of health Sciences (LSMU), Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Universität Witten/Herdecke, St. George's Hospital, Danish Epilepsy Centre, Aarhus University Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University Toruń, Charité - UniversitätsMedizin = Charité - University Hospital Berlin, Moscow Regional Research Clinical Institute (MONICA), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), Hôpital Necker - Enfants Malades AP-HP, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), Department of Clinical Genetics

المصدر: ISSN: 1664-2295 ; Frontiers in Neurology ; https://u-picardie.hal.science/hal-03603521Test ; Frontiers in Neurology, 2019, 10, pp.705. ⟨10.3389/fneur.2019.00705⟩.

مصطلحات موضوعية: mTOR, registry, SEGA, TOSCA, tuberous sclerosis complex, [SDV]Life Sciences [q-bio]

العلاقة: hal-03603521; https://u-picardie.hal.science/hal-03603521Test; https://u-picardie.hal.science/hal-03603521/documentTest; https://u-picardie.hal.science/hal-03603521/file/fneur-10-00705.pdfTest; PUBMEDCENTRAL: PMC6616060

الإتاحة: https://doi.org/10.3389/fneur.2019.00705Test
https://u-picardie.hal.science/hal-03603521Test
https://u-picardie.hal.science/hal-03603521/documentTest
https://u-picardie.hal.science/hal-03603521/file/fneur-10-00705.pdfTest

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8

دورية أكاديمية

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

المؤلفون: Nabbout, Rima, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D ́Amato, Lisa, d'Augères, Guillaume Beaure, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna, Kingswood, John C., Shinohara, Nobuo, Horie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, Yasushi, Endo, Shoichi, Inoue, Yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, Yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Valeryevich Belyaev, Oleg, Agranovich, Oleg, Vladislavovna Levitina, Elena, Vladimirovna Maksimova, Yulia, Karas, Antonina, Jiang, Yuwu, Zou, Liping, Xu, Kaifeng, Zhang, Yushi, Luan, Guoming, Zhang, Yuqin, Wang, Yi, Jin, Meiling, Ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, Yan, Bo, Deng, Yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Kate, Yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Thampratankul Krisnachai Chomtho, Lunliya, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Syrigou Papavasiliou, Antigone, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Dhooghe, Marc, Verhelst, Hélène, Roelens, Filip, Cecile Nassogne, Marie, Defresne, Pierre, De Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, De Saint Martin, Anne, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stéphane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Nguyen The Tich, Sylvie, Godet, Bertrand, Rojas, Maria Luz Ruiz Falco, Planas, Jaume Campistol, Bermejo, Antonio Martinez, Dura, Patricia Smeyers, Aparicio, Susana Roldan, Gonzalez, Maria Jesus Martinez, Pison, Javier Lopez, Blanco Barca, Manuel Oscar, Laso, Eduardo Lopez, Luengo, Olga Alonso, Rodriguez, Francisco Javier Aguirre, Dieguez, Ignacio Malaga, Salas, Ana Camacho, Carrera, Itxaso Marti, Salcedo, Eduardo Martinez, Petri, Maria Eugenia Yoldi, Candela, Ramon Cancho, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Monteiro, José Paulo da Silva Oliveira, Leao, Miguel Jorge Santos de Oliveira Ferreira, Luis, Catarina Sofia Marceano Ribeiro, Pires Mendonca, Carla, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Bernardina, Bernardo Dalla, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Ann Johnston, Clare, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina

المساهمون: R. Nabbout, E. Belousova, M.P. Benedik, T. Carter, V. Cottin, P. Curatolo, M. Dahlin, L. D ́amato, G.B. D'Augère, P.J. de Vrie, J.C. Ferreira, M. Feucht, C. Fladrowski, C. Hertzberg, S. Jozwiak, J.A. Lawson, A. Macaya, R. Marque, F. O'Callaghan, J. Qin, V. Sander, M. Sauter, S. Shah, Y. Takahashi, R. Touraine, S. Yourouko, B. Zonnenberg, A. Jansen, J.C. Kingswood, N. Shinohara, S. Horie, M. Kubota, J. Tohyama, K. Imai, M. Kaneda, H. Kaneko, Y. Uchida, S. Endo, Y. Inoue, K. Uruno, A. Serdaroglu, Z. Yapici, B. Anlar, S. Altunbasak, O. Lvova, O. Valeryevich Belyaev, O. Agranovich, E. Vladislavovna Levitina, Y. Vladimirovna Maksimova, A. Kara, Y. Jiang, L. Zou, K. Xu, Y. Zhang, G. Luan, Y. Wang, M. Jin, D. Ye, W. Liao, L. Zhou, J. Liu, J. Liao, B. Yan, Y. Deng, L. Jiang, Z. Liu, S. Huang, H. Li, K. Kim, P. Chen, H. Lee, J. Tsai, C. Chi, C. Huang, K. Riney, D. Yate, P. Kwan, S. Likasitwattanakul, C. Nabangchang, L. Thampratankul Krisnachai Chomtho, K. Katanyuwong, S. Sriudomkajorn, J. Wilmshurst, R. Segel, T. Gilboa, M. Tzadok, A. Fattal-Valevski, P. Papathanasopoulo, A. Syrigou Papavasiliou, S. Giannakodimo, S. Gatzoni, E. Pavlou, M. Tzoufi, M. Dhooghe, H. Verhelst, F. Roelen, M. Cecile Nassogne, P. Defresne, L. De Waele

مصطلحات موضوعية: epilepsy, registry, TOSCA, tuberous sclerosis complex, Neurology (clinical), neurology, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30868117; info:eu-repo/semantics/altIdentifier/wos/WOS:000756028100006; volume:4; issue:1; firstpage:73; lastpage:84; numberofpages:12; journal:EPILEPSIA OPEN; http://hdl.handle.net/2434/636930Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062434615

الإتاحة: https://doi.org/10.1002/epi4.12286Test
http://hdl.handle.net/2434/636930Test

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