Søgeresultater - Sarah von Spiczak

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  1. 1
    The role of opioids in restless legs syndrome: an [11C]diprenorphine PET study

    The role of opioids in restless legs syndrome: an [11C]diprenorphine PET study af Sarah von Spiczak

    Udgivet 2005
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  2. 2
    L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

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

    Udgivet 2022
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  3. 3
    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

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

    Udgivet 2010
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  4. 4
    Genetic heterogeneity in infantile spasms

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

    Udgivet 2019
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  5. 5
    Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany

    Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany af Adam Strzelczyk, Malin Kalski, Thomas Bast, Adelheid Wiemer‐Kruel, U Bettendorf, Lara Kay, Matthias Kieslich, Gerhard Kluger, Gerhard Kurlemann, Patrick May, Bernd A. Neubauer, Tilman Polster, Arne Herting, Sarah von Spiczak, Regina Trollmann, Markus Wolff, John Irwin, Joe Carroll, Daniel Macdonald, Clive Pritchard, Karl Martin Klein, Felix Rosenow, Susanne Schubert‐Bast

    Udgivet 2019
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  6. 6
    Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

    Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany af Margarita Maltseva, Susanne Schubert‐Bast, Johann Philipp Zöllner, Thomas Bast, Patrick May, Sarah von Spiczak, Susanne Ruf, Regina Trollmann, Markus Wolff, Frauke Hornemann, Kerstin Alexandra Klotz, Julia Jacobs, Gerhard Kurlemann, Bernd A. Neubauer, Tilman Polster, Steffen Syrbe, Astrid Bertsche, U Bettendorf, Gerhard Kluger, Silke Flege, Felix Rosenow, Lara Kay, Adam Strzelczyk

    Udgivet 2023
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  7. 7
    The role of <i> <scp>SLC</scp> 2A1 </i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp> 1 deficiency syndrome

    The role of <i> <scp>SLC</scp> 2A1 </i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp> 1 deficiency syndrome af Jan Larsen, Katrine M. Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibæk, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu, Bernd A. Neubauer, Peter Uldall, Pasquale Striano, Federico Zara, Rebecca Kleiss, Michael A. Simpson, Hiltrud Muhle, Marina Nikanorova, Birgit Jepsen, Niels Tommerup, Ulrich Stephani, Renzo Guerrini, Morten Dunø, Helle Hjalgrim, Deb K. Pal, Ingo Helbig, Rikke S. Møller

    Udgivet 2015
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  8. 8
    A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany

    A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany af Adam Strzelczyk, Susanne Schubert‐Bast, Thomas Bast, U Bettendorf, Barbara Fiedler, Hajo M. Hamer, Arne Herting, Malin Kalski, Lara Kay, Matthias Kieslich, Karl Martin Klein, Gerhard Kluger, Gerhard Kurlemann, Patrick May, Bernd A. Neubauer, Tilman Polster, Sarah von Spiczak, Ulrich Stephani, Regina Trollmann, Adelheid Wiemer‐Kruel, Markus Wolff, John Irwin, Joe Carroll, Clive Pritchard, Felix Rosenow

    Udgivet 2019
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  9. 9
    <i>GABRA1</i> and <i>STXBP1</i> : Novel genetic causes of Dravet syndrome

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

    Udgivet 2014
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  10. 10
    Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

    Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial af Marleen M L van Arnhem, Bart van den Munckhof, Alexis Arzimanoglou, Emilio Perucca, Liisa Metsähonkala, Guido Rubboli, Marianne Søndergaard Khinchi, Anne de Saint Martin, Kerstin Alexandra Klotz, Julia Jacobs, J. Helen Cross, Irene Morales, Wim Otte, Heleen C. van Teeseling, Frans S.S. Leijten, Kees P. J. Braun, Floor E. Jansen, Anna Jansen, Lieven Lagae, Thomas Bast, Sarah von Spiczak, Gerhard Kluger, Patrick Van Bogaert, Eija Gaily, Sarah Baer, Stéphane Auvin, Richard Chin, Sameer M. Zuberi, Petia Dimova, C Dana Craiu, Pierangelo Veggiotti, Georgia Ramantani

    Udgivet 2023
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  11. 11
    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

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

    Udgivet 2014
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  12. 12
    Mutations in <i>GABRB3</i>

    Mutations in <i>GABRB3</i> af Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence Lion François, Gaëtan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Mariëlle E.M. Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T. Myers, Line H.G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, К. Yu. Мukhin, Hans Holthausen, Koen L.I. van Gassen, Hans A. Dahl, Niels Tommerup, Heather C. Mefford, Guido Rubboli, Renzo Guerrini, Johannes R. Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic

    Udgivet 2017
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  13. 13
    DNM1 encephalopathy: A new disease of vesicle fission.

    DNM1 encephalopathy: A new disease of vesicle fission. af Sarah von Spiczak, Katherine L. Helbig, Deepali N. Shinde, Robert Huether, Manuela Pendziwiat, Charles Marques Lourenço, Mark E. Nuñes, Dean Sarco, Richard A. Kaplan, Dennis Dlugos, Heidi E. Kirsch, Anne Slavotinek, Maria Roberta Cilio, Mackenzie C. Cervenka, Julie S. Cohen, Rebecca McClellan, Ali Fatemi, Amy Wong Ten Yuen, Yoshimi Sagawa, Rebecca O. Littlejohn, Scott D. McLean, Laura Hernandez‐Hernandez, Bridget H. Maher, Rikke S. Møller, Elizabeth E. Palmer, John A. Lawson, Colleen A. Campbell, Charuta Joshi, Diana L. Kolbe, Georgie Hollingsworth, Bernd A. Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E. Scheffer, Sérgio D.J. Pena, Sanjay M. Sisodiya, Ingo Helbig

    Udgivet 2017
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  14. 14
    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy af Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz, Sandra Roselli, Maryam Najafi, Dilek Uludağ Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Güneş, Kaya Bilgüvar, Audrey Labalme, Eudéline Alix, Damien Sanlaville, Julitta de Bellescize, Anne‐Lise Poulat, Ingo Helbig, Sarah von Spiczak, Stéphanie Baulac, Nina Barišić, Rudi Balling, Hande Çağlayan, Dana Craiu, Renzo Guerrini, Karl Martin Klein, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Yvonne G. Weber, Ali‐Reza Moslemi, Holger Lerche, Patrick May, Gaëtan Lesca, Sarah Weckhuysen, Homa Tajsharghi

    Udgivet 2020
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  15. 15
    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

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

    Udgivet 2009
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  16. 16
    Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies af Carolien G. F. de Kovel, Holger Trucks, Katherine L. Helbig, Heather C. Mefford, Carl Baker, Costin Leu, Christian Kluck, Hiltrud Muhle, Sarah von Spiczak, P Ostertag, Tanja Obermeier, Ailing A. Kleefuß‐Lie, Kerstin Hallmann, Michael Steffens, Verena Gaus, Karl Martin Klein, Hajo M. Hamer, Felix Rosenow, Eva H. Brilstra, Dorothee Kasteleijn‐Nolst Trenité, Mariëlle E.M. Swinkels, Yvonne G. Weber, Iris Unterberger, Fritz Zimprich, L Urak, Martha Feucht, Karoline Fuchs, Rikke S. Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, I.-M. Ruckert, H.‐Erich Wichmann, André Franke, S. Schreiber, Peter Nürnberg, Christian E. Elger, Holger Lerche, Ulrich Stephani, Bobby P.C. Koeleman, Dick Lindhout, Evan E. Eichler, T. Sander

    Udgivet 2009
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  17. 17
    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy af Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller

    Udgivet 2019
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  18. 18
    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations

    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations af Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Gemma L. Carvill, Johanna A. Jaehn, Anna‐Kaisa Anttonen, Eva H. Brilstra, Hande Çağlayan, Carolien G. F. de Kovel, Christel Depienne, Eija Gaily, Elena Di Gennaro, Beatriz G. Giráldez, Padhraig Gormley, Rosa Guerrero, Renzo Guerrini, Eija Hämäläinen, Corinna Hartmann, Laura Hernandez‐Hernandez, Helle Hjalgrim, Bobby P.C. Koeleman, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Costin Leu, Carla Marini, Jacinta M. McMahon, Davide Mei, Rikke S. Møller, Hiltrud Muhle, Candace T. Myers, Caroline Nava, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Marjan J. A. van Kempen, Nienke E. Verbeek, Sunay Usluer, Federico Zara, Aarno Palotie, Heather C. Mefford, Ingrid E. Scheffer, Peter De Jonghe, Ingo Helbig, Arvid Suls

    Udgivet 2016
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  19. 19
    Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

    Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies af Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James M.J. Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, Gregory S. Barsh, Sarah Weckhuysen, Miriam H. Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, R Myers, Gregory M. Cooper, Heather C. Mefford, Pasquale Striano, Federico Zara, Ingo Helbig, Rikke S. Møller, Sarah von Spiczak, Hiltrud Muhle, Hande Çağlayan, Katalin Štěrbová, Dana Craiu, Dorota Hoffman, Anna‐Elina Lehesjoki, Kaja Kristine Selmer, Christel Depienne, Johannes R. Lemke, Carla Marini, Renzo Guerrini, Bernd A. Neubauer, Tiina Talvik, Eric Leguern, Peter De Jonghe, Sarah Weckhuysen

    Udgivet 2018
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  20. 20
    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures

    <i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures af Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill, John S. Archer, Sinéad B. Heavin, Simone Mandelstam, Dana Craiu, Samuel F. Berkovic, Deepak Gill, Heather C. Mefford, Ingrid E. Scheffer, Aarno Paalotie, Anna‐Elina Lehesjoki, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric LeGuern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Manuela Pendziwiat, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Arvid Suls, Tania Djémié, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    Udgivet 2015
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