检索结果 - Helle Hjalgrim

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  1. 1
    The incidence of<i>SCN1A</i>-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

    The incidence of<i>SCN1A</i>-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009 由 Allan Bayat, Helle Hjalgrim, Rikke S. Møller

    出版 2015
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  2. 2
    Detection of generalized tonic–clonic seizures by a wireless wrist accelerometer: A prospective, multicenter study

    Detection of generalized tonic–clonic seizures by a wireless wrist accelerometer: A prospective, multicenter study 由 Sándor Beniczky, Tilman Polster, Troels W. Kjær, Helle Hjalgrim

    出版 2013
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  3. 3
    Epidemiology and outcome of idiopathic generalized epilepsy in adults

    Epidemiology and outcome of idiopathic generalized epilepsy in adults 由 Joanna Gesche, Jakob Christensen, Helle Hjalgrim, Guido Rubboli, Christoph P. Beier

    出版 2019
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  4. 4
    Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

    Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1 由 Koenraad Devriendt, Gert Matthijs, Roeland Van Dael, Marc Gewillig, Bénédicte Eyskens, Helle Hjalgrim, Brigitte Dolmer, Julie McGaughran, Karen Brøndum‐Nielsen, Peter Marynen, Jean‐Pierre Fryns, Joris Vermeesch

    出版 1999
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  5. 5
    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy 由 Mai‐Britt Mosbech, Anne S. Olsen, Ditte Neess, Oshrit Ben‐David, Laura L. Klitten, Jan Larsen, Anne Sabers, John Vissing, Jørgen E. Nielsen, Lis Hasholt, Andrés D. Klein, Michael Tsoory, Helle Hjalgrim, Niels Tommerup, Anthony H. Futerman, Rikke S. Møller, Nils J. Færgeman

    出版 2014
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  6. 6
    Rare exonic deletions of the <scp><i>RBFOX1</i></scp> gene increase risk of idiopathic generalized epilepsy

    Rare exonic deletions of the <scp><i>RBFOX1</i></scp> gene increase risk of idiopathic generalized epilepsy 由 Dennis Lal, Holger Trucks, Rikke S. Møller, Helle Hjalgrim, Bobby P.C. Koeleman, Carolien G. F. de Kovel, Frank Visscher, Yvonne G. Weber, Holger Lerche, Felicitas Becker, Christoph J. Schankin, Bernd A. Neubauer, Rainer Surges, Wolfram S. Kunz, Fritz Zimprich, André Franke, Thomas Illig, Janina S. Ried, Costin Leu, Peter Nürnberg, Thomas Sander

    出版 2013
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  7. 7
    Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

    Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles 由 Sarah L. Nolin, W. Ted Brown, Anne Glicksman, George E. Houck, Alice D. Gargano, Amy K. Sullivan, Valérie Biancalana, Karen Brøndum‐Nielsen, Helle Hjalgrim, Elke Holinski‐Feder, R. Frank Kooy, John Longshore, James Macpherson, Jean‐Louis Mandel, Gert Matthijs, François Rousseau, Peter Steinbach, Marja‐Leena Väisänen, Harriet von Koskull, Stephanie L. Sherman

    出版 2003
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  8. 8
    Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i>

    Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i> 由 Christina Halgren, Søren K. Kjærgaard, Mads Bak, Christine Søholm Hansen, Zahra El-Schich, CM Anderson, KF Henriksen, Helle Hjalgrim, Maria Kirchhoff, EK Bijlsma, Maartje Nielsen, NS den Hollander, CAL Ruivenkamp, Bertrand Isidor, Cédric Le Caignec, Raffaella Zannolli, Mafalda Mucciolo, Alessandra Renieri, Francesca Mari, BM Anderlid, J Andrieux, Anne Dieux, Niels Tommerup, Iben Bache

    出版 2011
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  9. 9
    Standardized Computer‐based Organized Reporting of <scp>EEG</scp>:<scp> SCORE</scp>

    Standardized Computer‐based Organized Reporting of <scp>EEG</scp>:<scp> SCORE</scp> 由 Sándor Beniczky, Harald Aurlien, Jan Brøgger, Anders Fuglsang‐Frederiksen, António Martins da Silva, Eugen Trinka, Gerhard H. Visser, Guido Rubboli, Helle Hjalgrim, Hermann Stefan, Ingmar Rosén, Jana Zárubová, Judith Dobesberger, Jørgen Alving, Andersen Kv, Martin Fabricius, Mary Atkins, Miri Y. Neufeld, Perrine Plouin, Petr Marusič, Ronit Pressler, Rūta Mameniškienė, R. Hopfengärtner, W. van Emde Boas, Peter Wolf

    出版 2013
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  10. 10
    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 由 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

    出版 2015
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  11. 11
    Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

    Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation 由 Elfride De Baere, Michael J. Dixon, Kent W. Small, Ethylin Wang Jabs, Bart Leroy, K Devriendt, Y. Gillerot, Geert Mortier, Françoise Meire, Lionel Van Maldergem, Winnie Courtens, Helle Hjalgrim, Shangzhi Huang, I. Liebaers, Nicole Van Regemorter, Philippe Touraine, Verayuth Praphanphoj, Alain Verloès, Nitin Udar, Vivek S. Yellore, Meenal Chalukya, Svetlana Yelchits, Anne De Paepe, Frédérique Kuttenn, Marc Fellous, Reiner A. Veitia, Ludwine Messiaen

    出版 2001
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  12. 12
    <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 由 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

    出版 2014
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  13. 13
    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice 由 Aia Elise Jønch, Élise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, R. Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurélie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne‐Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke S. Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch‐Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont

    出版 2019
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    Revisão
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  14. 14
    Extending the <i>KCNQ2</i> encephalopathy spectrum

    Extending the <i>KCNQ2</i> encephalopathy spectrum 由 Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S. Møller, Sabine Grønborg, An‐Sofie Schoonjans, Berten Ceulemans, Sinéad B. Heavin, Christin Eltze, Rita Horváth, Gianluca Casara, Tiziana Pisano, Lucio Giordano, Kevin Rostásy, Edda Haberlandt, Beate Albrecht, Andrea Bevot, Ira Benkel, Steffan Syrbe, Beth Rosen Sheidley, Renzo Guerrini, Annapurna Poduri, Johannes R. Lemke, Simone Mandelstam, Ingrid E. Scheffer, Marco Angriman, Pasquale Striano, Carla Marini, Arvid Suls, Peter De Jonghe

    出版 2013
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  15. 15
    Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

    Effectiveness of antiepileptic therapy in patients with PCDH19 mutations 由 J Lotte, Thomas Bast, Peter Borusiak, Antonietta Coppola, J. Helen Cross, Petia Dimova, András Fogarasi, Irene Graneß, Renzo Guerrini, Helle Hjalgrim, Reinhard Keimer, Christian Korff, Gerhard Kurlemann, Steffen Leiz, M Linder-Lucht, Tobias Loddenkemper, Christine Makowski, Christian Mühe, Joost Nicolai, Marina Nikanorova, Simona Pellacani, Sunny Philip, Susanne Ruf, Ivan Sánchez Fernández, Kurt Schlachter, Pasquale Striano, Biayna Sukhudyan, Deyana Valcheva, R. Jeroen Vermeulen, Tanja Weisbrod, Bernd Wilken, Philipp Wolf, Gerhard Kluger

    出版 2016
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  16. 16
    ‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

    ‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation 由 Lysa Boissé Lomax, Marta A. Bayly, Helle Hjalgrim, Rikke S. Møller, Annemarie Vlaar, Kari Modalsli Aaberg, Iris Marquardt, Luke C. Gandolfo, Michèl A.A.P. Willemsen, Erik‐Jan Kamsteeg, John D. O’Sullivan, Georg-Christoph Korenke, Bastiaan R. Bloem, I.F.M. de Coo, Judith M.A. Verhagen, Ines Said, Trine Prescott, Asbjørg Stray‐Pedersen, Magnhild Rasmussen, Danya F. Vears, Anna‐Elina Lehesjoki, Mark Corbett, Melanie Bahlo, Jozef Gécz, Leanne M. Dibbens, Samuel F. Berkovic

    出版 2013
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  17. 17
    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies 由 Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, María J. Miranda, Muhammad Farooq, Jens Erik Nielsen, Lene Lavard Svendsen, Ditte B. Kjelgaard, Karen Markussen Linnet, Qin Hao, Peter Uldall, Mimoza Frangu, Niels Tommerup, Shahid Mahmood Baig, Uzma Abdullah, Alfred Peter Born, Pia Gellert, Marina Nikanorova, Kern Olofsson, Birgit Jepsen, Dragan Marjanović, Lana I.K. Al-Zehhawi, Sofia J. Peñalva, B Krag-Olsen, Klaus Brusgaard, Helle Hjalgrim, Guido Rubboli, Deb K. Pal, Hans A. Dahl

    出版 2016
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  18. 18
    The phenotypic spectrum of <i>SCN8A</i> encephalopathy

    The phenotypic spectrum of <i>SCN8A</i> encephalopathy 由 Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, G. Schmiedel, Nina Barišić, Christel Depienne, Eva H. Brilstra, Yuan Mang, Jens Erik Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby P.C. Koeleman, M. L. Harris, Kees P. J. Braun, Carolien G. F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, M. Troncoso, L. Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, 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, 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, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    出版 2015
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  19. 19
    Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

    Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies 由 Dennis Lal, Ann‐Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G. F. de Kovel, Dorothee Kasteleijn‐Nolst Trenité, Anja C. M. Sonsma, Bobby P.C. Koeleman, Dick Lindhout, Yvonne G. Weber, Holger Lerche, Claudia Kapser, Christoph J. Schankin, Wolfram S. Kunz, Rainer Surges, Christian E. Elger, Verena Gaus, Bettina Schmitz, Katherine L. Helbig, Hiltrud Muhle, Ulrich Stephani, Karl Martin Klein, Felix Rosenow, Bernd A. Neubauer, Eva M. Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S. Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, André Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, Thomas Sander

    出版 2015
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  20. 20
    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 由 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

    出版 2014
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