Showing 1 - 7 results of 7 for search 'Sarah von Spiczak', query time: 0.04s
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Genotypes and phenotypes of patients with Lafora disease living in Germany by David Brenner, Tobias Baumgartner, Sarah von Spiczak, Jan Lewerenz, Roger Weis, Anja Grimmer, Petra Gaspirova, Claudia D. Wurster, Wolfram S. Kunz, Jan Wagner, Berge A. Minassian, Christian E. Elger, Albert C. Ludolph, Saskia Biskup, Dennis Döcker
Published 2019-11-01
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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. by Heather C Mefford, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, Andre Franke, Alain Malafosse, Pierre Genton, Pierre Thomas, Christina A Gurnett, Stefan Schreiber, Alexander G Bassuk, Michel Guipponi, Ulrich Stephani, Ingo Helbig, Evan E Eichler
Published 2010-05-01
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Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome by Adam Strzelczyk, Gerhard Kurlemann, Thomas Bast, Ulrich Bettendorf, Gerhard Kluger, Thomas Mayer, Bernd A. Neubauer, Tilman Polster, Sarah von Spiczak, Regina Trollmann, Markus Wolff, Toby Toward, Jens Gruenert, Eddie Gibson, Clive Pritchard, Joe Carroll, Felix Rosenow, Susanne Schubert-Bast
Published 2022-06-01
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Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany by Margarita Maltseva, Susanne Schubert-Bast, Johann Philipp Zöllner, Thomas Bast, Thomas Mayer, Sarah von Spiczak, Susanne Ruf, Regina Trollmann, Markus Wolff, Frauke Hornemann, Kerstin A. Klotz, Julia Jacobs, Gerhard Kurlemann, Bernd A. Neubauer, Tilman Polster, Steffen Syrbe, Astrid Bertsche, Ulrich Bettendorf, Gerhard Kluger, Silke Flege, Felix Rosenow, Lara Kay, Adam Strzelczyk
Published 2023-04-01
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RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum by Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Published 2020-01-01
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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish by Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe
Published 2019-02-01
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