المؤلفون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

المساهمون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa, Mercede, Munell, Francina, Macaya, Alfon, Boles, Richard, Heimer, Gali, Papacostas, Savva, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

مصطلحات موضوعية: autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30929742; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700012; volume:104; issue:4; firstpage:721; lastpage:730; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3138980Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737; https://www.cell.com/ajhg/fulltext/S0002-9297Test(19)30061-8

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/11570/3138980Test
https://www.cell.com/ajhg/fulltext/S0002-9297Test(19)30061-8

المؤلفون: Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur Shashidhar, Mojarrad, Majid, Khashab, Heba Youssef E.L., deHoll, Leigh, Yue, Wyatt Wai Yin, Alsaif, Hessa S., Zanetti, María Natalia, Bello, Oscar, Person, Richard Erwin, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh Heidari, Efthymiou, Stephanie, El-Bassyouni, Hala Tabie, Soliman, Doaa Refaey, Tekeş, Selahattin, Özer, Leyla, Baltacı, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya., Fowzan S., Houlden, Henry H., Groppa, Stanislav A., Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia M., Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belén, Di Rosa, Gabriella, Goraya, Jatinder Singh, Mine, June, Avdjieva-Tzavella, Daniela Mircheva, Kathom, Hadil Mohamed, Tincheva, Radka Stefanova, Banu, Selina H., Pineda-Marfà, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., Verrottï, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard G., Papacostas, Savvas S., Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz Hamid, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama M., Koutsis, Georgios, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, M., Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed

مصطلحات موضوعية: Cleft palate, Epilepsy, GAD1, Muscle weakness, Neurodevelopmental delay

وصف الملف: application/pdf

العلاقة: Brain; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M. ve diğerleri. (2020). Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants. Brain, 143(8), 2388-2397.; https://academic.oup.com/brain/article/143/8/2388/5875729Test; https://hdl.handle.net/11468/7447Test; 143; 2388; 2397; WOS:000825023900016; 2-s2.0-85090075296; Q1

الإتاحة: https://doi.org/10.1093/brain/awaa178Test
https://hdl.handle.net/11468/7447Test
https://academic.oup.com/brain/article/143/8/2388/5875729Test

المؤلفون: Kahlig, Kristopher M., Rhodes, Thomas H., Pusch, Michael, Freilinger, Tobias, Pereira-Monteiro, José M., Ferrari, Michel D., van den Maagdenberg, Arn M. J. M., Dichgans, Martin, George,, Alfred L.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2008 Jul . 105(28), 9799-9804.

الوصول الحر: https://www.jstor.org/stable/25463053Test

المؤلفون: Stam, Anine H, Luijckx, Gert Jan, Poll-The, Bwee Tien, Ginjaar, Ieke, Frants, Rune R, Haan, Joost, Ferrari, Michel D, Terwindt, Gisela M, van den Maagdenberg, Arn M J M

المساهمون: Department of Neurology, Leiden University Medical Centre, University of Groningen Groningen, Department of Pediatric Neurology, Academic Medical Centre Amsterdam, Department of Clinical Genetics, Leiden University Medical Centre, Department of Human Genetics, Leiden University Medical Centre

المصدر: ISSN: 0022-3050.

مصطلحات موضوعية: COMA, EPILEPSY, GENETICS, MIGRAINE

العلاقة: hal-00552784; https://hal.science/hal-00552784Test; https://hal.science/hal-00552784/documentTest; https://hal.science/hal-00552784/file/PEER_stage2_10.1136%252Fjnnp.2009.177279.pdfTest

الإتاحة: https://doi.org/10.1136/jnnp.2009.177279Test
https://hal.science/hal-00552784Test
https://hal.science/hal-00552784/documentTest
https://hal.science/hal-00552784/file/PEER_stage2_10.1136%252Fjnnp.2009.177279.pdfTest

المؤلفون: Dreier, Jens P, Fabricius, Martin, Ayata, Cenk, Sakowitz, Oliver W, William Shuttleworth, C, Dohmen, Christian, Graf, Rudolf, Vajkoczy, Peter, Helbok, Raimund, Suzuki, Michiyasu, Schiefecker, Alois J, Major, Sebastian, Winkler, Maren Kl, Kang, Eun-Jeung, Milakara, Denny, Oliveira-Ferreira, Ana I, Reiffurth, Clemens, Revankar, Gajanan S, Sugimoto, Kazutaka, Dengler, Nora F, Hecht, Nils, Foreman, Brandon, Feyen, Bart, Kondziella, Daniel, Friberg, Christian K, Piilgaard, Henning, Rosenthal, Eric S, Westover, M Brandon, Maslarova, Anna, Santos, Edgar, Hertle, Daniel, Sánchez-Porras, Renán, Jewell, Sharon L, Balança, Baptiste, Platz, Johannes, Hinzman, Jason M, Lückl, Janos, Schoknecht, Karl, Schöll, Michael, Drenckhahn, Christoph, Feuerstein, Delphine, Eriksen, Nina, Horst, Viktor, Bretz, Julia S, Jahnke, Paul, Scheel, Michael, Bohner, Georg, Rostrup, Egill, Pakkenberg, Bente, Heinemann, Uwe, Claassen, Jan, Carlson, Andrew P, Kowoll, Christina M, Lublinsky, Svetlana, Chassidim, Yoash, Shelef, Ilan, Friedman, Alon, Brinker, Gerrit, Reiner, Michael, Kirov, Sergei A, Andrew, R David, Farkas, Eszter, Güresir, Erdem, Vatter, Hartmut, Chung, Lee S, Brennan, K C, Lieutaud, Thomas, Marinesco, Stephane, Maas, Andrew Ir, Sahuquillo, Juan, Dahlem, Markus A, Richter, Frank, Herreras, Oscar, Boutelle, Martyn G, Okonkwo, David O, Bullock, M Ross, Witte, Otto W, Martus, Peter, van den Maagdenberg, Arn Mjm, Ferrari, Michel D, Dijkhuizen, Rick M, Shutter, Lori A, Andaluz, Norberto, Schulte, André P, MacVicar, Brian, Watanabe, Tomas, Woitzik, Johannes, Lauritzen, Martin, Strong, Anthony J, Hartings, Jed A

المساهمون: In Vivo NMR ISI, Circulatory Health, Brain

مصطلحات موضوعية: global ischemia, intracerebral hemorrhage, spreading depression, Spreading depolarization, anoxic depolarization, asphyxial depolarization, brain edema, brain trauma, cerebral blood flow, epilepsy, focal ischemia, neurocritical care, neuroprotection, neurovascular coupling, peri-infarct depolarization, spreading ischemia, subarachnoid hemorrhage, vasospasm, Journal Article, Review

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/349446Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/349446Test

المؤلفون: Loonen, Inge C M, Jansen, Nico A, Cain, Stuart M, Schenke, Maarten, Voskuyl, Rob A, Yung, Andrew C, Bohnet, Barry, Kozlowski, Piotr, Thijs, Roland D, Ferrari, Michel D, Snutch, Terrance P, Maagdenberg, Arn M J M van den, Tolner, Else A, van den Maagdenberg, Arn M J M

المصدر: Brain: A Journal of Neurology; Feb2019, Vol. 142 Issue 2, p412-425, 14p

مصطلحات موضوعية: EPILEPSY, NEURAL transmission, BRAIN stem, SUDDEN death, ADULTS

المؤلفون: Zhenyu Gao, Todorov, Boyan, Barrett, Curtis F., van Dorp, Stijn, Ferrari, Michel D., van den Maagdenberg, Arn M.J.M., De Zeeuw, Chris I., Hoebeek, Freek E.

المصدر: Journal of Neuroscience; 10/31/2012, Vol. 32 Issue 44, p15533-15546, 14p

مصطلحات موضوعية: NEUROLOGICAL research, GENETIC mutation, NEUROLOGICAL emergencies, MIGRAINE, EPILEPSY, CEREBELLAR ataxia, CHLORZOXAZONE, LABORATORY mice

المؤلفون: Haan, Joost, van den Maagdenberg, Arn M. J. M., Brouwer, Oebele F., Ferrari, Michel D.

المصدر: Expert Review of Neurotherapeutics; Sep2008, Vol. 8 Issue 9, p1307-1311, 5p

مصطلحات موضوعية: MIGRAINE, EPILEPSY, MOLECULAR genetics, BRAIN disease treatment, NEUROTRANSMITTERS, EFFECT of drugs on ion channels, DRUG efficacy

المؤلفون: Haan, Joost, Oberstein, Saskia A. J. Lesnik, Ferrari, Michel D.

المصدر: Cerebrovascular Diseases; 2007, Vol. 24 Issue 2/3, p316-317, 2p, 1 Black and White Photograph, 1 Diagram

مصطلحات موضوعية: EPILEPSY, CEREBRAL infarction, CEREBROVASCULAR disease, DIAGNOSIS, MEDICAL records, CASE studies

المؤلفون: Bauer, Prisca R.¹ (AUTHOR) prisca.bauer@uniklinik-freiburg.de, Tolner, Else A.^2,3 (AUTHOR), Keezer, Mark R.^4,5,6 (AUTHOR), Ferrari, Michel D.² (AUTHOR), Sander, Josemir W.^6,7,8 (AUTHOR)

المصدر: Nature Reviews Neurology. Sep2021, Vol. 17 Issue 9, p529-544. 16p.

مصطلحات موضوعية: *EPILEPSY, *PEOPLE with epilepsy, *GENETIC mutation, *HEADACHE, *GENETIC variation, *SYMPTOMS, *ELECTROENCEPHALOGRAPHY, *MIGRAINE, *COMORBIDITY