Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
阐明GRIN1表型谱:一种独特的遗传性NMDA受体脑病
期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000002740
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