Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
SPTAN1单等位基因变异相关疾病不断扩展：从癫痫性脑病到纯痉挛性截瘫和共济失调
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2022.09.013
Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A; Nizon, Mathilde; Cogne, Benjamin; Jamra, Rami Abu; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonnière, Roger; Magry, Virginie; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Melegh, Béla; Szabó, András; Sümegi, Katalin; Cossée, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry
