نتائج البحث - "David Neal Franz"

1

Adjunctive everolimus therapy for tuberous sclerosis complex-associated refractory seizures: Results from the postextension phase of EXIST-3

المؤلفون: Fabian Herbst, Rima Nabbout, Tilman Polster, Dennis J. Dlugos, Severine Peyrard, Petrus J. de Vries, Jacqueline A. French, David Neal Franz, Paolo Curatolo, Hiroko Ikeda, Zuhal Yapici, John A. Lawson, Diana Pelov

المصدر: EpilepsiaREFERENCES. 62(12)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b6ef6eca1aac4740abdffef2b98a43Test
https://pubmed.ncbi.nlm.nih.gov/35482576Test

2

GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

المؤلفون: Arndt Rolfs, Douglas R. Smith, Hongjie Yuan, Markus Wolff, Eirik Frengen, Sarah E Parisotto, Mark A. Tarnopolsky, John Millichap, Katherine L. Helbig, Christian Korff, Lutz Dondit, Anna-Elina Lehesjoki, Alison M. Muir, Brad T. Tinkle, Heather C Mefford, Bodo Laube, Anne T. Berg, Wen-Hann Tan, Kelly L. Jones, Floor E. Jansen, Christine M. Stanley, Candace T. Myers, Isabelle De Bie, John A. Lawson, Henrike O. Heyne, Wenjuan Chen, David Neal Franz, Julie R. Jones, Elysa J. Marco, Nataliya Di Donato, Cyril Mignot, Jasper J. van der Smagt, Stephen F. Traynelis, Tarja Linnankivi, Tim M. Strom, Hirofumi Kusumoto, Rena Vanzo, Petter Strømme, Uffe Birk Jensen, Amy Lacroix, Darius J Adams, Chun Hu, Boris Keren, Sha Tang, Richard J. Leventer, Johannes R. Lemke, Levinus A. Bok, Helio Pedro, Rami Abou Jamra, Dianalee McKnight, Ethan M. Goldberg, Tony Roscioli, Lauren Brady, Konrad Platzer, Philippe Major, Amy Decker, Anup D. Patel, Marcia C. Willing, Ingrid E. Scheffer, Mark Mintz, Eva H. Brilstra, Carolina Courage, Lynette G. Sadleir, Alexander Winschel, William B. Dobyns, Stephanie Fox, Emmanuelle Ranza, Saskia Biskup, Dennis Döcker, Judith D. Ranells, Rikke S. Møller, Elaine H. Zackai, Hannah Schütz, Mieke M. van Haelst, Christel Depienne

المساهمون: Medicum, Research Programme for Molecular Neurology, Department of Medical and Clinical Genetics, Research Programs Unit, Neuroscience Center, Anna-Elina Lehesjoki / Principal Investigator, University of Helsinki, Children's Hospital, Clinicum, Lastenneurologian yksikkö, HUS Children and Adolescents, Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics

المصدر: Journal of Medical Genetics, 54(7), 460. BMJ Publishing Group
Journal of Medical Genetics, 54(7), 460-470. BMJ Publishing Group
J. Med. Genet. 54, 460-470 (2017)
Platzer, K, Yuan, H, Schuetz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Stromme, P, Biskup, S, Doecker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Moller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509Test
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : Novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509Test
Journal of Medical Genetics, Vol. 54, No 7 (2017) pp. 460-470
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A J, Sadleir, L G, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509Test