Результати пошуку - von Spiczak, Sarah

Seizure control in a patient with Dravet syndrome and cystic fibrosis() за авторством Schmalbach, Barbara, Moeller, Bettina, von Spiczak, Sarah, Muhle, Hiltrud, Stephani, Ulrich, Lang, Nicolas

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Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy за авторством Herzog, Rebecca, Hellenbroich, Yorck, Brüggemann, Norbert, Lohmann, Katja, Grimmel, Mona, Haack, Tobias B., von Spiczak, Sarah, Münchau, Alexander

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Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome за авторством Muhle, Hiltrud, Mefford, Heather C, Obermeier, Tanja, von Spiczak, Sarah, Eichler, Evan E, Stephani, Ulrich, Sander, Thomas, Helbig, Ingo

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Impfung zur Vorbeugung der COVID-19-Erkrankung sowie Impfpriorisierung bei Epilepsie за авторством Strzelczyk, Adam, Knake, Susanne, Holtkamp, Martin, Schulze-Bonhage, Andreas, Lemke, Johannes, von Spiczak, Sarah, Berkenfeld, Ralf, Rosenow, Felix, Brandt, Christian, Schmitt, Friedhelm C.

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L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants за авторством Krey, Ilona, von Spiczak, Sarah, Johannesen, Kathrine M., Hikel, Christiane, Kurlemann, Gerhard, Muhle, Hiltrud, Beysen, Diane, Dietel, Tobias, Møller, Rikke S., Lemke, Johannes R., Syrbe, Steffen

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Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis за авторством Hartmann, Corinna, von Spiczak, Sarah, Suls, Arvid, Weckhuysen, Sarah, Buyse, Gunnar, Vilain, Catheline, Van Bogaert, Patrick, De Jonghe, Peter, Cook, Joseph, Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Mefford, Heather C.

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Genotypes and phenotypes of patients with Lafora disease living in Germany за авторством Brenner, David, Baumgartner, Tobias, von Spiczak, Sarah, Lewerenz, Jan, Weis, Roger, Grimmer, Anja, Gaspirova, Petra, Wurster, Claudia D., Kunz, Wolfram S., Wagner, Jan, Minassian, Berge A., Elger, Christian E., Ludolph, Albert C., Biskup, Saskia, Döcker, Dennis

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Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies за авторством Mefford, Heather C., Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A., Schreiber, Stefan, Bassuk, Alexander G., Guipponi, Michel, Stephani, Ulrich, Helbig, Ingo, Eichler, Evan E.

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Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome за авторством Strzelczyk, Adam, Kurlemann, Gerhard, Bast, Thomas, Bettendorf, Ulrich, Kluger, Gerhard, Mayer, Thomas, Neubauer, Bernd A., Polster, Tilman, von Spiczak, Sarah, Trollmann, Regina, Wolff, Markus, Toward, Toby, Gruenert, Jens, Gibson, Eddie, Pritchard, Clive, Carroll, Joe, Rosenow, Felix, Schubert-Bast, Susanne

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Genetic heterogeneity in infantile spasms за авторством Muir, Alison M., Myers, Candace T., Nguyen, Nancy T., Saykally, Julia, Craiu, Dana, De Jonghe, Peter, Helbig, Ingo, Hoffman, Dorota, Guerrini, Renzo, Lehesjoki, Anna-Elina, Marini, Carla, Møller, Rikke S., Serratosa, Jose, Štěrbová, Katalin, Striano, Pasquale, von Spiczak, Sarah, Weckhuysen, Sarah, Mefford, Heather C.

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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies за авторством Galer, Peter D., Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E., Pendziwiat, Manuela, Helbig, Katherine L., Ellis, Colin A., Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Thomas, Rhys H., Krause, Roland, Weber, Yvonne, Helbig, Ingo

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Structural genomic variation in childhood epilepsies with complex phenotypes за авторством Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen, Onno, Jansen, Floor E, Braun, Kees P J, de Haan, Gerrit-Jan, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Poot, Martin, Lindhout, Dick, Brilstra, Eva H, Møller, Rikke S, Koeleman, Bobby PC

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GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome за авторством Carvill, Gemma L., Weckhuysen, Sarah, McMahon, Jacinta M., Hartmann, Corinna, Møller, Rikke S., Hjalgrim, Helle, Cook, Joseph, Geraghty, Eileen, O’Roak, Brian J., Petrou, Steve, Clarke, Alison, Gill, Deepak, Sadleir, Lynette G., Muhle, Hiltrud, von Spiczak, Sarah, Nikanorova, Marina, Hodgson, Bree L., Gazina, Elena V., Suls, Arvid, Shendure, Jay, Dibbens, Leanne M., De Jonghe, Peter, Helbig, Ingo, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum за авторством Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish за авторством Siekierska, Aleksandra, Stamberger, Hannah, Deconinck, Tine, Oprescu, Stephanie N., Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, Elias, Mullen, Patrick, Wiencek, Patrick, Hardies, Katia, Lee, Jeong-Soo, Giong, Hoi-Khoanh, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L., Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, Ender, Kecskes, Angela, Lupski, James R., Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N., Spiegel, Ronen, Timmerman, Vincent, von Spiczak, Sarah, Helbig, Ingo, Weckhuysen, Sarah, Francklyn, Christopher, Antonellis, Anthony, de Witte, Peter, De Jonghe, Peter

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly за авторством Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer, Afawi, Zaid, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Depienne, Christel, De Kovel, Carolien G.F., Dimova, Petia, Guerrero-López, Rosa, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jahn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose M., Møller, Rikke S., Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, Von Spiczak, Sarah, Weber, Yvonne, Zara, Federico

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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia за авторством Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Vargas Parra, Karen, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M., Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy за авторством Helbig, Ingo, Mefford, Heather C, Sharp, Andrew J, Guipponi, Michel, Fichera, Marco, Franke, Andre, Muhle, Hiltrud, de Kovel, Carolien, Baker, Carl, von Spiczak, Sarah, Kron, Katherine L, Steinich, Ines, Kleefuβ-Lie, Ailing A, Leu, Costin, Gaus, Verena, Schmitz, Bettina, Klein, Karl M, Reif, Philipp S, Rosenow, Felix, Weber, Yvonne, Lerche, Holger, Zimprich, Fritz, Urak, Lydia, Fuchs, Karoline, Feucht, Martha, Genton, Pierre, Thomas, Pierre, Visscher, Frank, de Haan, Gerrit-Jan, Møller, Rikke S, Hjalgrim, Helle, Luciano, Daniela, Wittig, Michael, Nothnagel, Michael, Elger, Christian E, Nürnberg, Peter, Romano, Corrado, Malafosse, Alain, Koeleman, Bobby P C, Lindhout, Dick, Stephani, Ulrich, Schreiber, Stefan, Eichler, Evan E, Sander, Thomas

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome за авторством Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo

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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies за авторством Møller, Rikke S., Wuttke, Thomas V., Helbig, Ingo, Marini, Carla, Johannesen, Katrine M., Brilstra, Eva H., Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L., Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T., Larsen, Line H.G., Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L., Dahl, Hans A., Tommerup, Niels, Mefford, Heather C., Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R., Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana

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