Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
由RFC1重复扩增引起的共济失调、神经病变、前庭反射消失综合征
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awz418
Cortese, Andrea; Tozza, Stefano; Yau, Wai Yan; Rossi, Salvatore; Beecroft, Sarah J; Jaunmuktane, Zane; Dyer, Zoe; Ravenscroft, Gianina; Lamont, Phillipa J; Mossman, Stuart; Chancellor, Andrew; Maisonobe, Thierry; Pereon, Yann; Cauquil, Cecile; Colnaghi, Silvia; Mallucci, Giulia; Curro, Riccardo; Tomaselli, Pedro J; Thomas-Black, Gilbert; Sullivan, Roisin; Efthymiou, Stephanie; Rossor, Alexander M; Laurá, Matilde; Pipis, Menelaos; Horga, Alejandro; Polke, James; Kaski, Diego; Horvath, Rita; Chinnery, Patrick F; Marques, Wilson; Tassorelli, Cristina; Devigili, Grazia; Leonardis, Lea; Wood, Nick W; Bronstein, Adolfo; Giunti, Paola; Züchner, Stephan; Stojkovic, Tanya; Laing, Nigel; Roxburgh, Richard H; Houlden, Henry; Reilly, Mary M