Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Weckhuysen, Sarah"'
Autor:
Bonardi CM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Woman's and Child's Health, University Hospital of Padua, 35100 Padua, Italy., Heyne HO; Finnish Institute for Molecular Medicine: FIMM, University of Helsinki, 00290 Helsinki, Finland.; Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, 02142 Cambridge, MA, USA., Fiannacca M; Radiology Department, University of Genoa, 16126 Genoa, Italy., Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, 8025 BV, The Netherlands., Olofsson K; Department of Pediatric Neurology, Danish Epilepsy Center, 4293 Dianalund, Denmark., Lesca G; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, 69008 Lyon, France., Verbeek N; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Stamberger H; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Striano P; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Zara F; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, 75013 Paris, France., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Buono S; Neurology Division, Hospital of National Relevance (AORN), Santobono Pausilipon, 80122 Naples, Italy., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, F-75013, Paris, France., Coppola A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy., Weckhuysen S; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Schoonjans AS; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Sarret C; Service de Neuropédiatrie, CHU de Clermont-Ferrand, 6310 Clermont-Ferrand, France., Baumgartner T; Department of Epileptology, University of Bonn, D-53105 Bonn, Germany., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig Holstein, 24105 Kiel, Germany., Portes VD; Neuropaediatrics Department, Femme Mère Enfant Hospital, 69500 Lyon, France., Toulouse J; Epileptology, Sleep Disorders and Functional Pediatric Neurology CHU Lyon, 69500 Bron, France., Nougues MC; Neuropaediatrics Department, Hospital Armand Trousseau, APHP, 75012 Paris, France., Rossi M; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, GENDEV Team, Claude Bernard Lyon 1 University, 69675 Bron, France., Demarquay G; Service de neurologie fonctionnelle et épileptologie, Neurological Hospital, 69677 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, NeuroPain, 69677 Bron, France., Ville D; Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France., Hirsch E; Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, 67100 Strasbourg, France., Maurey H; Department of Pediatric Neurology, Hopital Bicêtre, Le Kremlin-Bicêtre, 94270 Paris, France., Willems M; Department of Clinical Genetics, Arnaud de Villeneuve Hospital, 34090 Montpellier, France., de Bellescize J; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hospices Civils de Lyon, 69677 Bron, Lyon, France., Altuzarra CD; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, 13005 Marseille, France., Bartolomei F; Epileptology Department, Timone Hospital, Public Assistance Hospitals of Marseille, Aix-Marseille University, 13005 Marseille, France., Picard F; Department of Clinical Neurosciences, University Hospitals and Faculty of Medicine, CH-1211 Geneva, Switzerland., Hornemann F; Centre of Pediatric Research, Hospital for Children and Adolescents, 04103 Leipzig, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), 6525 GA Nijmegen, The Netherlands., Kroes HY; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Reale C; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Dibbens L; Epilepsy Research Group, UniSA Clinical and Health Sciences, University of South Australia, and Australian Centre for Precision Health, SA 5001 Adelaide, Australia., Bearden DR; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY14642, USA., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Dec 31; Vol. 144 (12), pp. 3635-3650.
Autor:
Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA. fitzgeraldmp@email.chop.edu., Fiannacca M; Danish Epilepsy Centre, Filadelfia, Dianalund,, DK 4293, Denmark., Smith DM; Minnesota Epilepsy Group, Saint Paul, MN, USA., Gertler TS; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, 8025 BV, Netherlands., Syrbe S; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Paediatrics, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands., Stamberger H; Neurogenetics group, Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, and Institute Born Bunge, University of Antwerp, Antwerp, 2000, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, 2650, Belgium., Weckhuysen S; Neurogenetics group, Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, and Institute Born Bunge, University of Antwerp, Antwerp, 2000, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, 2650, Belgium., Ceulemans B; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, 2650, Belgium., Schoonjans AS; Neurogenetics Research Group, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, 1090, Brussels, Belgium., Rossi M; Genetics department, Hospices Civils de Lyon, and Institut National de la Santé et de la Recherche Médicale U1028, Centre national de la recherche scientifique Unité Mixte de Recherche 5292, Lyon Neuroscience Research Center, GENDEV Team, Claude Bernard Lyon 1 University, Bron, 69500, France., Demarquay G; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and Centre national de la recherche scientifique, Unité Mixte de Recherche 5292, Lyon Neuroscience Research Center, Auditory Cognition and Psychoacoustics Team, Lyon, 69003, France., Lesca G; Genetics department, Hospices Civils de Lyon, and Institut National de la Santé et de la Recherche Médicale U1028, Centre national de la recherche scientifique Unité Mixte de Recherche 5292, Lyon Neuroscience Research Center, GENDEV Team, Claude Bernard Lyon 1 University, Bron, 69500, France., Olofsson K; Danish Epilepsy Centre, Filadelfia, Dianalund,, DK 4293, Denmark., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands., Hornemann F; Centre of Pediatric Research, Hospital for Children and Adolescents, 04103, Leipzig, Germany., Baulac S; Sorbonne Université, UPMC Univ Paris 06, Unité Mixte de Recherche S 1127, F-75013, Paris, France.; Institut National de la Santé et de la Recherche Médicale, U1127, F-75013, Paris, France.; Centre national de la recherche scientifique, Unité Mixte de Recherche 7225, F-75013, Paris, France.; Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, F-75013, Paris, France.; Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, F-75013, Paris, France., Rubboli G; Danish Epilepsy Centre, Filadelfia, Dianalund,, DK 4293, Denmark.; University of Copenhagen, Copenhagen, 1165, Denmark., Minks KQ; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Lee B; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA., Dlugos D; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA., Møller RS; Danish Epilepsy Centre, Filadelfia, Dianalund,, DK 4293, Denmark.; Institute for Regional Health Research, University of Southern Denmark, Odense, 5230, Denmark., Bearden D; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA.
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2019 Jul; Vol. 16 (3), pp. 848-857.
Autor:
Mulhern MS; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY., Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands., Stong N; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY., Brunner HG; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Bier L; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY., Lippa N; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY., Riviello J; Department of Neurology, Columbia University Department of Neurology, New York, NY., Rouhl RPW; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands.; Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Maastricht, the Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, the Netherlands., Kempers M; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Stegmann APA; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands., Kukolich MK; Cook Children's Hospital, Fort Worth, TX., Telegrafi A; GeneDx, Gaithersburg, MD., Lehman A; Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Lopez-Rangel E; Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Houcinat N; University of Burgundy-Franche-Comté, UMR1231 GAD, INSERM, Dijon, France.; Dijon Bourgogne University Hospital Center, Rare Diseases Reference Center 'Developmental Anomalies and Informational Syndromes,' Genetic Center, FHU-TRANSLAD, Dijon, France., Barth M; Department of Biochemistry and Genetics, Angers University Hospital Center, Angers, France., den Hollander N; Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Hoffer MJV; Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Weckhuysen S; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Roovers J; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Djemie T; Center for Molecular Neurology, VIB, Neurogenetics Group, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Barca D; Pediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania., Ceulemans B; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium., Craiu D; Pediatric Neurology Clinic, Al Obregia Hospital, Carol Davila University of Medicine, Bucharest, Romania., Lemke JR; Institute for Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Korff C; Pediatric Neurology Unit, Child and Adolescent Department, University Hospitals, Geneva, Switzerland., Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA., Meyers CT; Department of Pediatrics, University of Washington, Seattle, WA., Siegler Z; Bethesda Children's Hospital, Department of Neurology, Budapest, Hungary., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL., Snijders Blok L; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., Veenstra-Knol HE; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Baugh EH; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY., Brilstra EH; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands., Volker-Touw CML; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands., van Binsbergen E; University Medical Center Utrecht, Department of Genetics, Utrecht, the Netherlands., Revah-Politi A; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY., Pereira E; Division of Clinical Genetics, Department of Pediatrics, New York-Presbyterian Morgan Stanley Children's Hospital, Columbia University Medical Center, New York, NY., McBrian D; Department of Neurology, Columbia University Department of Neurology, New York, NY., Pacault M; Genetics Service, Nantes University Hospital Center, Nantes, France., Isidor B; Genetics Service, Nantes University Hospital Center, Nantes, France., Le Caignec C; Genetics Service, Nantes University Hospital Center, Nantes, France., Gilbert-Dussardier B; Genetics Service, Poitiers University Hospital Center, Poitiers, France.; University of Poitiers, EA3808 NEUVACOD, Poitiers, France., Bilan F; Genetics Service, Poitiers University Hospital Center, Poitiers, France.; University of Poitiers, EA3808 NEUVACOD, Poitiers, France., Heinzen EL; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY., Goldstein DB; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY., Stevens SJC; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands., Sands TT; Columbia University Medical Center, Institute for Genomic Medicine, New York, NY.; Department of Neurology, Columbia University Department of Neurology, New York, NY.
Publikováno v:
Annals of neurology [Ann Neurol] 2018 Nov; Vol. 84 (5), pp. 788-795. Date of Electronic Publication: 2018 Oct 25.
Autor:
de Lange IM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Weckhuysen S; Epilepsy Unit, Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, AP-HP, Hôpital de la Pitié Salpêtrière, Centre de reference épilepsies rares, Paris, France.; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Velinov M; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Albert Einstein College of Medicine, Bronx, New York, USA., Dolzhanskaya N; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Albert Einstein College of Medicine, Bronx, New York, USA., Marsh E; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Devinsky O; NYU Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, New York, USA., Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., van Paesschen W; Department of Neurology, UZ Leuven, Leuven, Belgium., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genova, Italy., van Gassen K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Kempen M; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., de Kovel CG; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Piard J; Centre de génétique humaine, Université de Franche-Comté, Besançon, France., Minassian BA; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Canada., Nezarati MM; Genetics Program, North York General Hospital and Prenatal Diagnosis & Medical Genetics, Mt. Sinai Hospital, Toronto, Canada., Pessoa A; University of Fortaleza, Fortaleza, Brazil., Jacquette A; Service de génétique, GHU Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris, France., Maher B; UCL Institute of Neurology, London, UK.; Epilepsy Society, Bucks, UK., Balestrini S; UCL Institute of Neurology, London, UK.; Epilepsy Society, Bucks, UK., Sisodiya S; UCL Institute of Neurology, London, UK.; Epilepsy Society, Bucks, UK., Warde MT; Service de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France., De St Martin A; Service de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France., Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France.; Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., van 't Slot R; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Besançon, France., Brilstra EH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Koeleman BP; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
Journal of medical genetics [J Med Genet] 2016 Dec; Vol. 53 (12), pp. 850-858. Date of Electronic Publication: 2016 Jun 29.
Autor:
Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S
Publikováno v:
Brain : a journal of neurology [Brain] 2016 Sep; Vol. 139 (Pt 9), pp. 2420-30. Date of Electronic Publication: 2016 Jul 19.
Autor:
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S
Publikováno v:
Neurology [Neurology] 2016 Jun 07; Vol. 86 (23), pp. 2171-8. Date of Electronic Publication: 2016 May 06.
Autor:
Djémié T; Neurogenetics Group, Department of Molecular Genetics, VIB, , Antwerp, Belgium., Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2014 Apr; Vol. 85 (4), pp. 462-5. Date of Electronic Publication: 2013 Oct 07.
Autor:
Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie
Publikováno v:
Brain: A Journal of Neurology; Dec2021, Vol. 144 Issue 12, p3635-3650, 16p
Autor:
Møller, R.S., Weber, Y.G., Klitten, L.L., Trucks, H., Muhle, H., Kunz, W.S., Mefford, H.C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I.M., Wichmann, H.E., Ernst, J.P., Schurmann, C., Grabe, H.J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., Zimprich, F., Mörzinger, M., Feucht, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Jordanova, A., Kjelgaard, D.B., Lehesjoki, A.E., Siren, A., Baulac, S., Leguern, E., Von Spiczak, S., Ostertag, P., Leber, M., Leu, C., Toliat, M.R., Nürnberg, P., Hempelmann, A., Rüschendorf, F., Elger, C.E., Kleefuß Lie, A.A., Surges, R., Gaus, V., Janz, D., Schmitz, B., Klein, K.M., Reif, P.S., Oertel, W.H., Hamer, H.M., Rosenow, F., Becker, F., Marini, C., Guerrini, R., Mei, D., Norci, V., Zara, F., Striano, P., Robbiano, A., Pezzella, M., Bianchi, A., Gambardella, A., Tinuper, P., La Neve, A., Capovilla, G., Vigliano, P., Crichiutti, G., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Giallonardo, M.T., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., Koeleman, B.P.C., De Kovel, C., Lindhout, D., De Haan, G.J., Ozbeck, U., Bebek, N., Baykan, B., Ozdemir, O., Ugur, S., Kocasoy Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Yapici, Z., Ozkara, C., Caglayan, H., Yalcin, O., Yalcin, D., Turkdogan, D., Dizdarer, G., Agan, K.
Publikováno v:
Epilepsia
Møller, R S, YG, W, Klitten, L L, H, T, H, M, WS, K, HC, M, A, F, M, K, P, W, D, D, S, S, IM, R, HE, W, JP, E, C, S, HJ, G, N, T, U, S, H, L, Hjalgrim, H, I, H & T, S 2013, ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ', Epilepsia, vol. 54, no. 2, pp. 256-264 . https://doi.org/10.1111/epi.12078
Epilepsia 54, 256-264 (2013)
Møller, R S, YG, W, Klitten, L L, H, T, H, M, WS, K, HC, M, A, F, M, K, P, W, D, D, S, S, IM, R, HE, W, JP, E, C, S, HJ, G, N, T, U, S, H, L, Hjalgrim, H, I, H & T, S 2013, ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ', Epilepsia, vol. 54, no. 2, pp. 256-264 . https://doi.org/10.1111/epi.12078
Epilepsia 54, 256-264 (2013)
Summary Purpose Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletion
Autor:
Alison L. Clarke, Jay Shendure, Eileen Geraghty, Samuel F. Berkovic, Brian J. O'Roak, Gemma L. Carvill, Steven Petrou, Heather C Mefford, Ingo Helbig, Sarah Weckhuysen, Elena V. Gazina, Marina Nikanorova, Arvid Suls, Hiltrud Muhle, Rikke S. Møller, Bree L. Hodgson, Sarah von Spiczak, Ingrid E. Scheffer, Helle Hjalgrim, Deepak Gill, Corinna Hartmann, Leanne M. Dibbens, Lynette G. Sadleir, Joseph Cook, Jacinta M McMahon, Peter De Jonghe
Publikováno v:
Neurology
Objective: To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in 13 SCN1A -negative patients with Dravet syndrome and targeted resequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc342d6d6222553d83d4432a0d80dce2
https://hdl.handle.net/1959.8/158742
https://hdl.handle.net/1959.8/158742