换一批GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
第一作者：
Platzer, Konrad
作者：
Platzer, Konrad [1]
;
Yuan, Hongjie [2]
;
Schuetz, Hannah [3]
;
Winschel, Alexander [4]
;
Chen, Wenjuan [5]
;
Hu, Chun [6]
;
Kusumoto, Hirofumi [7]
;
Heyne, Henrike O. [8]
;
Helbig, Katherine L. [9]
;
Tang, Sha [10]
;
Willing, Marcia C. [11]
;
Tinkle, Brad T. [12]
;
Adams, Darius J. [13]
;
Depienne, Christel [14]
;
Keren, Boris [15]
;
Mignot, Cyril [16]
;
Frengen, Eirik [17]
;
Stromme, Petter [18]
;
Biskup, Saskia [19]
;
Doecker, Dennis [20]
;
Strom, Tim M. [21]
;
Mefford, Heather C. [22]
;
Myers, Candace T. [23]
;
Muir, Alison M. [24]
;
LaCroix, Amy [25]
;
Sadleir, Lynette [26]
;
Scheffer, Ingrid E. [27]
;
Brilstra, Eva [28]
;
van Haelst, Mieke M. [29]
;
van der Smagt, Jasper J. [30]
;
Bok, Levinus A. [31]
;
Moller, Rikke S. [32]
;
Jensen, Uffe B. [33]
;
Millichap, John J. [34]
;
Berg, Anne T. [35]
;
Goldberg, Ethan M. [36]
;
De Bie, Isabelle [37]
;
Fox, Stephanie [38]
;
Major, Philippe [39]
;
Jones, Julie R. [40]
;
Zackai, Elaine H. [41]
;
Abou Jamra, Rami [42]
;
Rolfs, Arndt [43]
;
Leventer, Richard J. [44]
;
Lawson, John A. [45]
;
Roscioli, Tony [46]
;
Jansen, Floor E. [47]
;
Ranza, Emmanuelle [48]
;
Korff, Christian M. [49]
;
Lehesjoki, Anna-Elina [50]
;
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.
作者单位：
Hop La Pitie Salpetriere, GRC UPMC Deficiences Intellectuelles & Autisme, Ctr Reference Deficiences
[1]
Courtagen Life Sci, Woburn, MA USA
[2]
Genome One, Sydney, NSW, Australia
[3]
Tech Univ Darmstadt, Dept Neurophysiol & Neurosensory Syst, Darmstadt, Hessen, Germany
[4]
Advocate Childrens Hosp, Park Ridge, IL USA
[5]
Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA
[6]
Univ Mississippi, Med Ctr, Div Med Genet, Dept Pediat, Jackson, MS 39216 USA
[7]
GeneDx, Gaithersburg, MD USA
[8]
Cincinnati Childrens Hosp Med Ctr, Dept Neurol, Cincinnati, OH 45229 USA
[9]
Univ S Florida, Dept Pediat, Tampa, FL 33620 USA
[10]
Washington Univ, Dept Pediat, St Louis Sch Med, St Louis, MO 63130 USA
[11]
Boston Childrens Hosp, Div Genet & Gen, Boston, MA USA
[12]
Sorbonne Univ, UPMC Univ Paris 06, CNRS,U 1127, UMR 7225,Inst Cerveau & Moelle Epiniere ICM,INSER
[13]
Univ Penn, Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA
[14]
Univ Childrens Hosp, Dept Pediat Neurol & Dev Med, Tubingen, Germany
[15]
Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland
[16]
Univ Leipzig Hosp & Clin, Inst Human Genet, Leipzig, Germany
[17]
Maxima Med Ctr, Dept Paediat, Veldhoven, Netherlands
[18]
Oslo Univ Hosp, Dept Pediat, Oslo, Norway
[19]
McMaster Univ, Childrens Hosp, Dept Pediat, Hamilton, ON, Canada
[20]
Natwide Childrens Hosp, Columbus, OH USA
[21]
Sydney Childrens Hosp, Dept Neurol, Sydney, NSW, Australia
[22]
Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA
[23]
Univ Otago, Dept Paediat & Child Hlth, Wellington, New Zealand
[24]
McGill Univ Hlth Ctr, Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada
[25]
Univ Melbourne, Dept Med, Austin Hlth, Melbourne, Vic, Australia
[26]
Practice Human Genet & CeGaT GmbH, Tubingen, Germany
[27]
Emory Univ, Sch Med, Rollins Res Ctr, Dept Pharmacol, Atlanta, GA 30322 USA
[28]
Ambry Genet, Div Clin Gen, Aliso Viejo, CA USA
[29]
Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia
[30]
Hackensack Univ Med Ctr, Hackensack, NJ USA
[31]
Ctr Neurol & Neurodev Hlth, Voorhees, NJ USA
[32]
Univ Hosp Geneva, Gen Med Serv, Geneva, Switzerland
[33]
Univ Helsinki, Childrens Hosp, Dept Pediat Neurol, Helsinki, Finland
[34]
Olgahosp Stuttgart, Dept Pediat Neurol, Stuttgart, Germany
[35]
Goryeb Childrens Hosp, Atlant Hlth Syst, Genet & Metab, Morristown, NJ USA
[36]
Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark
[37]
Greenwood Genet Ctr, Greenwood, SC 29646 USA
[38]
Univ Med Ctr, Brain Ctr Rudolf Magnus, Dept Child Neurol, Utrecht, Netherlands
[39]
Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark
[40]
Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Human Genet, Neuherberg, Germany
[41]
Northwestern Univ, Feinberg Sch Med, Dept Pediat, Ann & Robert H Lurie Childrens Hosp Chicago
[42]
Univ Montreal, CHU Ste Justine, Dept Neurol Sci, Montreal, PQ, Canada
[43]
Univ San Francisco, Sch Med, Dept Neurol, San Francisco, CA 94117 USA
[44]
Univ Utrecht, Med Ctr, Dept Genet, Utrecht, Netherlands
[45]
Tech Univ Dresden, Carl Gustav Carus Fac Med, Inst Clin Genet, Dresden, Germany
[46]
Oslo Univ Hosp, Dept Med Genet, Oslo, Norway
[47]
Univ Hosp Geneva, Neurol Unit, Dept Child & Adolescent, Geneva, Switzerland
[48]
Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA
[49]
Lineagen Inc, Salt Lake City, UT USA
[50]
发布时间
2018-01-30
- 浏览3
Journal of Medical Genetics
Journal of Medical Genetics
460-470页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
