Zobrazeno 1 - 8
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pro vyhledávání: '"Schütz, Hannah"'
Akademický článek
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Autor:
Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Publikováno v:
Neurology
Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology. Methods: We collected molecular and clinical data from several diagn
Akademický článek
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Autor:
Platzer, Konrad, Yuan, Hongjie, Schütz, Hannah, Winschel, Alexander, Chen, Wenjuan, Hu, Chun, Kusumoto, Hirofumi, Heyne, Henrike O., Helbig, Katherine L., Tang, Sha, Willing, Marcia C., Tinkle, Brad T., Adams, Darius J., Depienne, Christel, Keren, Boris, Mignot, Cyril, Frengen, Eirik, Strømme, Petter, Biskup, Saskia, Docker, Dennis, Strom, Tim M., Mefford, Heather C., Myers, Candace T., Muir, Alison M., LaCroix, Amy, Sadleir, Lynette, Scheffer, Ingrid E., Brilstra, Eva, van Haelst, Mieke M., van der Smagt, Jasper J., Bok, Levinus A., Møller, Rikke S., Jensen, Uffe B., Millichap, John J., Berg, Anne T., Goldberg, Ethan M., De Bie, Isabelle, Fox, Stephanie, Major, Philippe, Jones, Julie R., Zackai, Elaine H., Abou Jamra, Rami, Rolfs, Arndt, Leventer, Richard J., Lawson, John A., Roscioli, Tony, Jansen, Floor E., Ranza, Emmanuelle, Korff, Christian M., Lehesjoki, Anna-Elina, Courage, Carolina, Linnankivi, Tarja, Smith, Douglas R., Stanley, Christine, Mintz, Mark, McKnight, Dianalee, Decker, Amy, Tan, Wen-Hann, Tarnopolsky, Mark A., Brady, Lauren I., Wolff, Markus, Dondit, Lutz, Pedro, Helio F., Parisotto, Sarah E., Jones, Kelly L., Patel, Anup D., Franz, David N., Vanzo, Rena, Marco, Elysa, Ranells, Judith D., Di Donato, Nataliya, Dobyns, William B., Laube, Bodo, Traynelis, Stephen F., Lemke, Johannes R.
Publikováno v:
Platzer, Konrad Yuan, Hongjie Schütz, Hannah Winschel, Alexander Chen, Wenjuan Hu, Chun Kusumoto, Hirofumi Heyne, Henrike O. Helbig, Katherine L. Tang, Sha Willing, Marcia C. Tinkle, Brad T. Adams, Darius J. Depienne, Christel Keren, Boris Mignot, Cyril Frengen, Eirik Strømme, Petter Biskup, Saskia Docker, Dennis Strom, Tim M. Mefford, Heather C. Myers, Candace T. Muir, Alison M. LaCroix, Amy Sadleir, Lynette Scheffer, Ingrid E. Brilstra, Eva van Haelst, Mieke M. van der Smagt, Jasper J. Bok, Levinus A. Møller, Rikke S. Jensen, Uffe B. Millichap, John J. Berg, Anne T. Goldberg, Ethan M. De Bie, Isabelle Fox, Stephanie Major, Philippe Jones, Julie R. Zackai, Elaine H. Abou Jamra, Rami Rolfs, Arndt Leventer, Richard J. Lawson, John A. Roscioli, Tony Jansen, Floor E. Ranza, Emmanuelle Korff, Christian M. Lehesjoki, Anna-Elina Courage, Carolina Linnankivi, Tarja Smith, Douglas R. Stanley, Christine Mintz, Mark McKnight, Dianalee Decker, Amy Tan, Wen-Hann Tarnopolsky, Mark A. Brady, Lauren I. Wolff, Markus Dondit, Lutz Pedro, Helio F. Parisotto, Sarah E. Jones, Kelly L. Patel, Anup D. Franz, David N. Vanzo, Rena Marco, Elysa Ranells, Judith D. Di Donato, Nataliya Dobyns, William B. Laube, Bodo Traynelis, Stephen F. Lemke, Johannes R. . GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Jo
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Externí odkaz:
http://hdl.handle.net/10852/63295
https://www.duo.uio.no/bitstream/handle/10852/63295/2/GRINBencephalopathy.pdf
https://www.duo.uio.no/bitstream/handle/10852/63295/2/GRINBencephalopathy.pdf
Akademický článek
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Akademický článek
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Autor:
Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Publikováno v:
Neurology (Ovid); June 2016, Vol. 86 Issue: 23 p2171-2178, 8p
Autor:
Platzer K; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Yuan H; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA., Schütz H; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Winschel A; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Chen W; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Hu C; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Kusumoto H; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA., Heyne HO; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Willing MC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Tinkle BT; Advocate Children's Hospital, Park Ridge, Illinois, USA., Adams DJ; Genetics and Metabolism, Goryeb Children's Hospital, Atlantic Health System, Morristown, New Jersey, USA., Depienne C; INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC 'Déficiences Intellectuelles et Autisme', Hôpital de la Pitié-Salpêtrière, Paris, France.; UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.; Laboratoire de cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Keren B; INSERM, U 1127, Sorbonne Universités, UPMC Université Paris 06, CNRS, UMR 7225, Institut du cerveau et de la moelle épinière (ICM), Paris, France.; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC 'Déficiences Intellectuelles et Autisme', Hôpital de la Pitié-Salpêtrière, Paris, France., Mignot C; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, GRC UPMC 'Déficiences Intellectuelles et Autisme', Hôpital de la Pitié-Salpêtrière, Paris, France., Frengen E; Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway., Strømme P; Department of Pediatrics, Oslo University Hospitals and University of Oslo, Oslo, Norway., Biskup S; Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany., Döcker D; Practice for Human Genetics and CeGaT GmbH, Tübingen, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., 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., Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., LaCroix A; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Sadleir L; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Scheffer IE; Department of Medicine, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia., Brilstra E; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., van Haelst MM; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Bok LA; Department of Paediatrics, Màxima Medical Centre, Veldhoven, The Netherlands., Møller RS; The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Millichap JJ; Departments of Pediatrics, Epilepsy Center and Division of Neurology Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Berg AT; Departments of Pediatrics, Epilepsy Center and Division of Neurology Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Goldberg EM; Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., De Bie I; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada., Fox S; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada., Major P; Department of Neurological Sciences, Université de Montréal, CHU Ste-Justine, Montreal, Canada., Jones JR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Zackai EH; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Abou Jamra R; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Centogene AG, Rostock, Germany., Rolfs A; Centogene AG, Rostock, Germany., Leventer RJ; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Childrens Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia., Lawson JA; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia., Roscioli T; Genome.One, Sydney, New South Wales, Australia., Jansen FE; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands., Ranza E; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Korff CM; Department of Child and Adolescent, Neurology Unit, University Hospitals of Geneva, Geneva, Switzerland., Lehesjoki AE; The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland., Courage C; The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Research Programs Unit, Molecular Neurology and Neuroscience Center, University of Helsinki, Helsinki, Finland., Linnankivi T; Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Smith DR; Courtagen Life Sciences, Woburn, Massachusetts, USA., Stanley C; Courtagen Life Sciences, Woburn, Massachusetts, USA., Mintz M; The Center for Neurological and Neurodevelopmental Health and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA., McKnight D; GeneDx, Gaithersburg, Maryland, USA., Decker A; GeneDx, Gaithersburg, Maryland, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Tarnopolsky MA; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Brady LI; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Wolff M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tubingen, Germany., Dondit L; Department of Pediatric Neurology and Center for Developmental Medicine, Olgahospital Stuttgart, Stuttgart, Germany., Pedro HF; Hackensack University Medical Center, Hackensack, New Jersey, USA., Parisotto SE; Hackensack University Medical Center, Hackensack, New Jersey, USA., Jones KL; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA., Patel AD; Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA., Franz DN; Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Vanzo R; Lineagen, Inc., Salt Lake City, Utah, USA., Marco E; Department of Neurology, University of San Francisco School of Medicine, San Francisco, California, USA., Ranells JD; Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Di Donato N; Institute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Neurology, University of Washington, Seattle, Washington, USA., Laube B; Department of Neurophysiology and Neurosensory Systems, Technical University Darmstadt, Darmstadt, Hessen, Germany., Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, Georgia, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Publikováno v:
Journal of medical genetics [J Med Genet] 2017 Jul; Vol. 54 (7), pp. 460-470. Date of Electronic Publication: 2017 Apr 04.