Zobrazeno 1 - 10
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pro vyhledávání: '"Jepsen, Birgit"'
Akademický článek
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Autor:
Bisgaard, Anne-Marie, Kirchhoff, Maria, Nielsen, Jens Erik, Brandt, Carsten, Hove, Hanne, Jepsen, Birgit, Jensen, Tim, Ullmann, Reinhard, Skovby, Flemming
Publikováno v:
In European Journal of Medical Genetics 2007 50(4):243-255
Autor:
Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, Mcmahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, De Kovel, Carolien G. F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Zara, Federico, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.
Publikováno v:
Neurology
Larsen, J, Carvill, G L, Gardella, E, Kluger, G, Schmiedel, G, Barisic, N, Depienne, C, Brilstra, E, Mang, Y, Nielsen, J E K, Kirkpatrick, M, Goudie, D, Goldman, R, Jähn, J A, Jepsen, B, Gill, D, Döcker, M, Biskup, S, McMahon, J M, Koeleman, B, Harris, M, Braun, K, de Kovel, C G F, Marini, C, Specchio, N, Djémié, T, Weckhuysen, S, Tommerup, N, Troncoso, M, Troncoso, L, Bevot, A, Wolff, M, Hjalgrim, H, Guerrini, R, Scheffer, I E, Mefford, H C, Møller, R S & EuroEPINOMICS RES Consortium 2015, ' The phenotypic spectrum of SCN8A encephalopathy ', Neurology, vol. 84, no. 5, pp. 480-489 . https://doi.org/10.1212/WNL.0000000000001211
Larsen, J, Carvill, G L, Gardella, E, Kluger, G, Schmiedel, G, Barisic, N, Depienne, C, Brilstra, E, Mang, Y, Nielsen, J E K, Kirkpatrick, M, Goudie, D, Goldman, R, Jähn, J A, Jepsen, B, Gill, D, Döcker, M, Biskup, S, McMahon, J M, Koeleman, B, Harris, M, Braun, K, de Kovel, C G F, Marini, C, Specchio, N, Djémié, T, Weckhuysen, S, Tommerup, N, Troncoso, M, Troncoso, L, Bevot, A, Wolff, M, Hjalgrim, H, Guerrini, R, Scheffer, I E, Mefford, H C, Møller, R S & EuroEPINOMICS RES Consortium 2015, ' The phenotypic spectrum of SCN8A encephalopathy ', Neurology, vol. 84, no. 5, pp. 480-489 . https://doi.org/10.1212/WNL.0000000000001211
OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations.METHODS:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ff62ae94d054b70e7770469a440548
https://doi.org/10.1212/wnl.0000000000001211
https://doi.org/10.1212/wnl.0000000000001211
Akademický článek
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Autor:
Gardella, Elena, Marini, Carla, Trivisano, Marina, Fitzgerald, Mark P., Alber, Michael, Howell, Katherine B., Darra, Francesca, Siliquini, Sabrina, Bölsterli, Bigna K., Masnada, Silva, Pichiecchio, Anna, Johannesen, Katrine M., Jepsen, Birgit, Fontana, Elena, Anibaldi, Gaia, Russo, Silvia, Cogliati, Francesca, Montomoli, Martino, Specchio, Nicola, Rubboli, Guido
Publikováno v:
Neurology; 9/18/2018, Vol. 91 Issue 12, pe1112-e1124, 13p
Akademický článek
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Autor:
Wohlleber, Eva, Kirchhoff, Maria, Zink, Alexander M., Kreiß-Nachtsheim, Martina, Küchler, Alma, Jepsen, Birgit, Kjaergaard, Susanne, Engels, Hartmut
Publikováno v:
In European Journal of Medical Genetics 2011 54(1):67-72
Autor:
Møller, Rikke S., Larsen, Line H.G., Johannesen, Katrine M., Talvik, Inga, Talvik, Tiina, Vaher, Ulvi, Miranda, Maria J., Farooq, Muhammad, Nielsen, Jens E.K., Lavard Svendsen, Lene, Kjelgaard, Ditte B., Linnet, Karen M., Hao, Qin, Uldall, Peter, Frangu, Mimoza, Tommerup, Niels, Baig, Shahid M., Abdullah, Uzma, Born, Alfred P., Gellert, Pia, Nikanorova, Marina, Olofsson, Kern, Jepsen, Birgit, Marjanovic, Dragan, Al-Zehhawi, Lana I.K., Peñalva, Sofia J., Krag-Olsen, Bente, Brusgaard, Klaus, Hjalgrim, Helle, Rubboli, Guido, Pal, Deb K., Dahl, Hans A.
Publikováno v:
Molecular Syndromology; September 2016, Vol. 7 Issue: 4 p210-219, 10p
Akademický článek
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Autor:
Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark., Willems M; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France., Aledo-Serrano A; Epilepsy and Neurogenetics Program-Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Linnankivi T; Department of Pediatric Neurology, New Children's Hospital and Pediatric Research Center, Epilepsia Helsinki, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Jepsen BS; Pediatric Department, Danish Epilepsy Center, Dianalund, Denmark., Bayat M; Department of Neurology and Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Kattentidt-Mouravieva AA; Stichting Zuidwester, Middelharnis, Netherlands., Vidal AA; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Valero-Lopez G; Neurology Department, Virgen de la Arrixaca University Hospital, Murcia, Spain., Alarcon-Martinez H; Department of Pediatric Neurology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Goodspeed K; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark., Johannesen KM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Frontiers in neuroscience [Front Neurosci] 2023 Aug 11; Vol. 17, pp. 1270299. Date of Electronic Publication: 2023 Aug 11 (Print Publication: 2023).