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Wyszukujesz frazę ""De Jonghe, P."" wg kryterium: Autor


Wyświetlanie 1-23 z 23
Tytuł:
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Autorzy:
Syrbe S; Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Riesch E; Center for Genomics and Transcriptomics (CeGaT) GmbH, Tübingen, Germany.; Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland.; Swiss Epilepsy Center, Zürich, Switzerland.
Djémié T; Neurogenetics group, Department of Molecular Genetics, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Müller S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Møller RS; Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Maher B; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Epilepsy Society, Chalfont-St-Peter, Bucks, SL9 0RJ, UK.
Hernandez-Hernandez L; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Epilepsy Society, Chalfont-St-Peter, Bucks, SL9 0RJ, UK.
Synofzik M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Caglayan HS; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
Arslan M; Gulhane Military Medical School, Division of Child Neurology, Ankara, Turkey.
Serratosa JM; Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Nothnagel M; Cologne Center for Genomics, University of Colgone, Cologne, Germany.
May P; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Krause R; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Löffler H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Detert K; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Dorn T; Swiss Epilepsy Center, Zürich, Switzerland.
Vogt H; Swiss Epilepsy Center, Zürich, Switzerland.
Krämer G; Swiss Epilepsy Center, Zürich, Switzerland.
Schöls L; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Mullis PE; Division of Pediatric Endocrinology, University Children's Hospital Inselspital, Bern, Switzerland.
Linnankivi T; Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Lehesjoki AE; Folkhälsan Institute of Genetics, Helsinki, Helsinki, Finland.; Neuroscience Center, University of Helsinki, Helsinki, Finland.; Research Program's Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Sterbova K; Child Neurology Department, 2nd Faculty of Medicine, Charles University, Motol Hospital, Prague, Czech Republic.
Craiu DC; Pediatric Neurology Clinic II, Department of Neurology, Pediatric Neurology, Psychiatry, and Neurosurgery, 'Carol Davila' University of Medicine, Sector 4, Bucharest, Romania.; Pediatric Neurology Clinic, 'Professor Doctor Alexandru Obregia' Clinical Hospital, Sector 4, Bucharest, Romania.
Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Korff CM; Child and Adolescent Department, Pediatric Neurology, University Hospitals, Geneva, Switzerland.
Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Steinlin M; Division of Neuropediatrics, University Children's Hospital Inselspital, Bern, Switzerland.
Gallati S; Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland.
Bertsche A; Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
Bernhard MK; Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
Merkenschlager A; Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
Kiess W; Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.
Gonzalez M; Dr. JT MacDonald Department for Human Genetics, Hussman Institute for Human Genomics, University of Miami, Miami, USA.
Züchner S; Dr. JT MacDonald Department for Human Genetics, Hussman Institute for Human Genomics, University of Miami, Miami, USA.
Palotie A; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, 02114, USA.
Suls A; Neurogenetics group, Department of Molecular Genetics, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
De Jonghe P; Neurogenetics group, Department of Molecular Genetics, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Helbig I; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Germany.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, USA.
Biskup S; Center for Genomics and Transcriptomics (CeGaT) GmbH, Tübingen, Germany.
Wolff M; Department of Neuropediatrics, University of Tübingen, Tübingen, Germany.
Maljevic S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Schüle R; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Division of Neuropediatrics, University Children's Hospital Inselspital, Bern, Switzerland.
Sisodiya SM; Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Epilepsy Society, Chalfont-St-Peter, Bucks, SL9 0RJ, UK.
Weckhuysen S; Neurogenetics group, Department of Molecular Genetics, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Lemke JR; Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.; Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland.; Department of Diagnostics, Institute of Human Genetics, University of Leipzig, Leipzig, Germany.
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Corporate Authors:
EuroEPINOMICS RES consortium
Źródło:
Nature genetics [Nat Genet] 2015 Apr; Vol. 47 (4), pp. 393-399. Date of Electronic Publication: 2015 Mar 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Epilepsy/*genetics
Kv1.2 Potassium Channel/*genetics
Spasms, Infantile/*genetics
Adult ; Amino Acid Sequence ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Pedigree ; Young Adult
Czasopismo naukowe
Tytuł:
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Autorzy:
Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Siekierska A; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
Langlois M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
May P; 1] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. [2] Institute for Systems Biology, Seattle, Washington, USA.
Huneau C; 1] INSERM, U1099, Rennes, France. [2] Université de Rennes 1, Laboratoire Traitement du Signal et de l'Image (LTSI), Rennes, France.
Becker F; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Muhle H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
Suls A; 1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Lemke JR; 1] Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland. [2] Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany.
de Kovel CG; Section of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Konrad K; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Kawalia A; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Toliat MR; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Sander T; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Rüschendorf F; Max Delbrück Centre for Molecular Medicine, Berlin, Germany.
Caliebe A; Institute of Human Genetics, Christian Albrechts University and University Hospital Schleswig-Holstein, Kiel, Germany.
Nagel I; Institute of Human Genetics, Christian Albrechts University and University Hospital Schleswig-Holstein, Kiel, Germany.
Kohl B; Kinderkrankenhaus Wilhelmstift, Rahlstedt, Germany.
Kecskés A; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
Jacmin M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Hardies K; 1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Weckhuysen S; 1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Riesch E; 1] Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland. [2] CeGaT, Tübingen, Germany. [3] Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Dorn T; Swiss Epilepsy Centre, Zurich, Switzerland.
Brilstra EH; Section of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Baulac S; 1] INSERM U1127, Centre National de la Recherche Scientifique (CNRS) UMR 7225, Sorbonne Universités, Université Pierre et Marie Curie (UMPC) Université Paris 06 UMRS 1127, Paris, France. [2] Institut du Cerveau et de la Moelle Epinière (ICM), Paris, France.
Møller RS; 1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Hjalgrim H; 1] Danish Epilepsy Centre, Dianalund, Denmark. [2] Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Koeleman BP; Section of Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Jurkat-Rott K; Division of Neurophysiology, University of Ulm, Ulm, Germany.
Lehman-Horn F; Division of Neurophysiology, University of Ulm, Ulm, Germany.
Roach JC; Institute for Systems Biology, Seattle, Washington, USA.
Glusman G; Institute for Systems Biology, Seattle, Washington, USA.
Hood L; Institute for Systems Biology, Seattle, Washington, USA.
Galas DJ; 1] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. [2] Institute for Systems Biology, Seattle, Washington, USA. [3] Pacific Northwest Diabetes Research Institute, Seattle, Washington, USA.
Martin B; 1] INSERM, U1099, Rennes, France. [2] Université de Rennes 1, Laboratoire Traitement du Signal et de l'Image (LTSI), Rennes, France.
de Witte PA; Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium.
Biskup S; 1] CeGaT, Tübingen, Germany. [2] Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
De Jonghe P; 1] Neurogenetics Group, VIB Department of Molecular Genetics, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
Balling R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Nürnberg P; 1] Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. [2] Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. [3] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Crawford AD; 1] Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium. [2] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Esguerra CV; 1] Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium. [2] Present address: Chemical Neuroscience Group, Biotechnology Centre of Oslo, University of Oslo, Oslo, Norway.
Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
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Corporate Authors:
EuroEPINOMICS RES Consortium
Źródło:
Nature genetics [Nat Genet] 2014 Dec; Vol. 46 (12), pp. 1327-32. Date of Electronic Publication: 2014 Nov 02.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Epilepsy/*genetics
Seizures, Febrile/*genetics
Syntaxin 1/*genetics
Amino Acid Sequence ; Animals ; Codon, Nonsense ; Cohort Studies ; Comparative Genomic Hybridization ; Exome ; Female ; Gene Deletion ; Genetic Linkage ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; Temperature ; Zebrafish
Czasopismo naukowe
Tytuł:
Opinion of Belgian neurologists on antiepileptic drug treatment in 2006: Belgian study on epilepsy treatment (BESET-2).
Autorzy:
Legros B; Department of Neurology, ULB-Hôpital Erasme, Reference Center for the Treatment of Refractory Epilepsy, 808, route de Lennik, 1070 Bruxelles, Belgium. />Boon P
De Jonghe P
Sadzot B
Van Rijckevorsel K
Schmedding E
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Źródło:
Acta neurologica Scandinavica [Acta Neurol Scand] 2009 Dec; Vol. 120 (6), pp. 402-10. Date of Electronic Publication: 2009 Oct 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Anticonvulsants/*therapeutic use
Epilepsy/*drug therapy
Practice Patterns, Physicians'/*trends
Adult ; Belgium ; Consensus ; Data Collection ; Female ; Humans ; Male ; Pregnancy ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł:
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Autorzy:
Singh NA; Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America. />Pappas C
Dahle EJ
Claes LR
Pruess TH
De Jonghe P
Thompson J
Dixon M
Gurnett C
Peiffer A
White HS
Filloux F
Leppert MF
Pokaż więcej
Źródło:
PLoS genetics [PLoS Genet] 2009 Sep; Vol. 5 (9), pp. e1000649. Date of Electronic Publication: 2009 Sep 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple/*genetics
Epilepsy/*complications
Epilepsy/*genetics
Seizures, Febrile/*etiology
Seizures, Febrile/*genetics
Sodium Channels/*genetics
Abnormalities, Multiple/physiopathology ; Amino Acid Sequence ; Amino Acid Substitution/genetics ; Animals ; Base Sequence ; DNA Mutational Analysis ; Electroshock ; Epilepsy/physiopathology ; Female ; Gene Knock-In Techniques ; Humans ; Kindling, Neurologic/physiology ; Male ; Mice ; Molecular Sequence Data ; Mutation/genetics ; NAV1.1 Voltage-Gated Sodium Channel ; NAV1.7 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins/genetics ; Pedigree ; Protein Subunits/genetics ; Seizures, Febrile/physiopathology ; Sequence Alignment ; Sodium Channels/chemistry ; Syndrome
Czasopismo naukowe
Tytuł:
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
Autorzy:
van Harssel, J. J. T.
Weckhuysen, S.
van Kempen, M. J. A.
Hardies, K.
Verbeek, N. E.
de Kovel, C. G. F.
Gunning, W. B.
van Daalen, E.
de Jonge, M. V.
Jansen, A. C.
Vermeulen, R. J.
Arts, W. F. M.
Verhelst, H.
Fogarasi, A.
de Rijk-van Andel, J. F.
Kelemen, A.
Lindhout, D.
De Jonghe, P.
Koeleman, B. P. C.
Suls, A.
Brilstra, E. H.
Pokaż więcej
Źródło:
neurogenetics. February 2013 14(1):23-34
Czasopismo naukowe
Tytuł:
V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function.
Autorzy:
Hedrich, U.B.S.
Syrbe, S.
Riesch, E.
Djémié, T.
Müller, S.
Møller, R.S.
Maher, B.
Hernandez-Hernandez, L.
Synofzik, M.
Caglayan, H.S.
Arslan, M.
Serratosa, J.
Gonzalez, M.
Züchner, S.
Palotie, A.
Suls, A.
De Jonghe, P.
Helbig, I.
Biskup, S.
Wolff, M.
Pokaż więcej
Źródło:
Clinical Neurophysiology. Aug2015, Vol. 126 Issue 8, pe80-e80. 1p.
Czasopismo naukowe
    Wyświetlanie 1-23 z 23

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