Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease
DARS2基因双等位基因变异是轴突型夏科-马里-图斯病的新病因
期刊:Ann Neurol
影响因子:8.100
doi:10.1002/ana.78005.
Berta Estévez-Arias # ,Siiri Sarv # ,Nathalie Bonello-Palot ,Laura Carrera-García ,Carlos Ortez ,Jesica Expósito-Escudero ,Delia Yubero ,Jordi Muchart ,Emilien Delmont ,Eve Õiglane-Shlik ,Teele Meren ,Sanna Puusepp ,Ülle Murumets ,Gajja S Salomons ,Bjarne Udd ,Liis Väli ,Lara Cantarero ,Carsten G Bönnemann ,Andrés Nascimento ,Santiago Ramón-Maiques ,Katrin Õunap ,Janet Hoenicka # ,Daniel Natera-de Benito # ,Francesc Palau #