Resultados de búsqueda - Sarah Weckhuysen

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  1. 1
    ILAE Genetic Literacy Series: Self‐limited familial epilepsy syndromes with onset in neonatal age and infancy

    ILAE Genetic Literacy Series: Self‐limited familial epilepsy syndromes with onset in neonatal age and infancy por Charissa Millevert, Sarah Weckhuysen

    Publicado 2023
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  2. 2
    The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding

    The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding por Nina Dirkx, Francesco Miceli, Maurizio Taglialatela, Sarah Weckhuysen

    Publicado 2020
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  3. 3
    Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

    Genetic potassium channel-associated epilepsies: Clinical review of the Kv family por Nicholas M. Allen, Sarah Weckhuysen, Kathleen M. Gorman, Mary D. King, Holger Lerche

    Publicado 2019
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  4. 4
    <i>STXBP1</i>encephalopathy

    <i>STXBP1</i>encephalopathy por Vanessa Lanoue, Ye Jin Chai, Julie Z. Brouillet, Sarah Weckhuysen, Elizabeth E. Palmer, Brett M. Collins, Frédéric A. Meunier

    Publicado 2019
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  5. 5
    Impact of COVID-19 on the lives and psychosocial well-being of persons with epilepsy during the third trimester of the pandemic: Results from an international, online survey

    Impact of COVID-19 on the lives and psychosocial well-being of persons with epilepsy during the third trimester of the pandemic: Results from an international, online survey por Charissa Millevert, Stijn Van Hees, Joseph Nelson Siewe Fodjo, Veerle Wijtvliet, Edlaine Faria de Moura Villela, Bárbara Rosso, António Gil‐Nagel, Sarah Weckhuysen, Robert Colebunders

    Publicado 2021
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  6. 6
    Access to healthcare and prevalence of anxiety and depression in persons with epilepsy during the COVID-19 pandemic: A multicountry online survey

    Access to healthcare and prevalence of anxiety and depression in persons with epilepsy during the COVID-19 pandemic: A multicountry online survey por Stijn Van Hees, Joseph Nelson Siewe Fodjo, Veerle Wijtvliet, Rafaël Van den Bergh, Edlaine Faria de Moura Villela, Carolina Ferreira da Silva, Sarah Weckhuysen, Robert Colebunders

    Publicado 2020
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  7. 7
    Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

    Dissecting the genetic basis of focal cortical dysplasia: a large cohort study por Sara Baldassari, Théo Ribierre, Elise Marsan, Homa Adle‐Biassette, Sarah Ferrand‐Sorbets, Christine Bulteau, Nathalie Dorison, Martine Fohlen, Marc Polivka, Sarah Weckhuysen, Georg Dorfmüller, Mathilde Chipaux, Stéphanie Baulac

    Publicado 2019
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  8. 8
    Early and effective treatment of <i><scp>KCNQ</scp>2</i> encephalopathy

    Early and effective treatment of <i><scp>KCNQ</scp>2</i> encephalopathy por Tiziana Pisano, Adam L. Numis, Sinéad B. Heavin, Sarah Weckhuysen, Marco Angriman, Arvid Suls, Barbara Podestà, Ronald L. Thibert, Kevin A. Shapiro, Renzo Guerrini, Ingrid E. Scheffer, Carla Marini, Maria Roberta Cilio

    Publicado 2015
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  9. 9
    Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

    Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress por Juliet K. Knowles, Ingo Helbig, Cameron S. Metcalf, Laura S. Lubbers, Lori L. Isom, Scott Demarest, Ethan M. Goldberg, Alfred L. George, Holger Lerche, Sarah Weckhuysen, Vicky Whittemore, Samuel F. Berkovic, Daniel H. Lowenstein

    Publicado 2022
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  10. 10
    Ictal Perfusion Patterns Associated with Single MRI‐Visible Focal Dysplastic Lesions: Implications for the Noninvasive Delineation of the Epileptogenic Zone

    Ictal Perfusion Patterns Associated with Single MRI‐Visible Focal Dysplastic Lesions: Implications for the Noninvasive Delineation of the Epileptogenic Zone por Patrick Dupont, Wim Van Paesschen, André Palmini, Rudo Ambayi, J. van Loon, Jan Goffin, Sarah Weckhuysen, Stefan Sunaert, Bejoy Thomas, Philippe Demaerel, Raf Sciot, Albert J. Becker, H Vanbilloen, Luc Mortelmans, Koen Van Laere

    Publicado 2006
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  11. 11
    STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a

    STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a por Dorothee van Breevoort, Ambrosius P. Snijders, Nicola Hellen, Sarah Weckhuysen, Kathinka W. E. M. van Hooren, Jeroen Eikenboom, Karine M. Valentijn, Mar Fernandez‐Borja, Berten Ceulemans, Peter De Jonghe, Jan Voorberg, Matthew J. Hannah, Tom Carter, Ruben Bierings

    Publicado 2014
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  12. 12
    Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

    Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy por Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, Candace T. Myers, Heather C. Mefford, Aarno Palotie, Ingo Helbig, Jochen C. Meier, Peter De Jonghe, Sarah Weckhuysen, Günter Schwarz

    Publicado 2015
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  13. 13
    Current practice in diagnostic genetic testing of the epilepsies

    Current practice in diagnostic genetic testing of the epilepsies por Ilona Krey, Konrad Platzer, Alina Esterhuizen, Samuel F. Berkovic, Ingo Helbig, Michael S. Hildebrand, Holger Lerche, Daniel H. Lowenstein, Rikke S. Møller, Annapurna Poduri, Lynette G. Sadleir, Sanjay M. Sisodiya, Sarah Weckhuysen, Jo M. Wilmshurst, Yvonne G. Weber, Johannes R. Lemke

    Publicado 2022
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  14. 14
    Involvement of <scp>GATOR</scp> complex genes in familial focal epilepsies and focal cortical dysplasia

    Involvement of <scp>GATOR</scp> complex genes in familial focal epilepsies and focal cortical dysplasia por Sarah Weckhuysen, Elise Marsan, Virginie Lambrecq, Cécile Marchal, Mélanie Morin‐Brureau, Isabelle An-Gourfinkel, Michel Baulac, Martine Fohlen, Christine Kallay Zetchi, Margitta Seeck, Pierre de la Grange, Bart Dermaut, Alfred Meurs, Pierre Thomas, Francine Chassoux, Eric LeGuern, Fabienne Picard, Stéphanie Baulac

    Publicado 2016
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  15. 15
    Amitriptyline use in individuals with <i>KCNQ2/3</i> gain‐of‐function variants: A retrospective cohort study

    Amitriptyline use in individuals with <i>KCNQ2/3</i> gain‐of‐function variants: A retrospective cohort study por Matthias De Wachter, Charissa Millevert, Joost Nicolai, Elisabeth A. Cats, Gerhard Kluger, Mathieu Milh, Robin Cloarec, Steffen Syrbe, Katrijn Arts, Katrien Jansen, Magdalena Krygier, Robert Śmigiel, Stéphane Auvin, Kern Olofson, Cathrine E. Gjerulfsen, Berten Ceulemans, Rikke S. Møller, Allan Bayat, Sarah Weckhuysen

    Publicado 2025
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  16. 16
    Genetic heterogeneity in infantile spasms

    Genetic heterogeneity in infantile spasms por 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

    Publicado 2019
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  17. 17
    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy

    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy por Johannes R. Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Victoria L. Harvey, Victoria M. James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel, John Neidhardt, Susanne Ruf, Markus Wolff, Deborah Bartholdi, Roberto Caraballo, Konrad Platzer, Arvid Suls, Peter De Jonghe, Saskia Biskup, Sarah Weckhuysen

    Publicado 2013
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  18. 18
    Depdc5 knockout rat: A novel model of mTORopathy

    Depdc5 knockout rat: A novel model of mTORopathy por Elise Marsan, Saeko Ishida, Adrien E. Schramm, Sarah Weckhuysen, Giuseppe Muraca, Sarah Lecas, Ning Liang, Caroline Treins, Mario Pende, Delphine Roussel, Michel Le Van Quyen, Tomoji Mashimo, Takehito Kaneko, Takashi Yamamoto, Tetsushi Sakuma, Séverine Mahon, Richard Miles, Eric LeGuern, Stéphane Charpier, Stéphanie Baulac

    Publicado 2016
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  19. 19
    Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

    Loss of synaptic Zn2+ transporter function increases risk of febrile seizures por Michael S. Hildebrand, A. Marie Phillips, Saul A. Mullen, Paul A. Adlard, Katia Hardies, John A. Damiano, Verena C. Wimmer, Susannah T. Bellows, Jacinta M. McMahon, Rosemary Burgess, Rik Hendrickx, Sarah Weckhuysen, Arvid Suls, Peter De Jonghe, Ingrid E. Scheffer, Steven Petrou, Samuel F. Berkovic, Christopher A. Reid

    Publicado 2015
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  20. 20
    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

    Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline por Katia Hardies, Yiying Cai, Claude Jardel, Anna Jansen, Mian Cao, Patrick May, Tania Djémié, C. Hachon Le Camus, Kathelijn Keymolen, Tine Deconinck, Vikas Bhambhani, Catherine Long, Samin A. Sajan, Katherine L. Helbig, Arvid Suls, Rudi Balling, Ingo Helbig, Peter De Jonghe, Christel Depienne, Pietro De Camilli, Sarah Weckhuysen

    Publicado 2016
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