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    • Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease 

      Estévez-Arias, Berta; Sarv, Siiri; Bonello-Palot, Nathalie; Carrera-García, Laura; Ortez, Carlos; Expósito-Escudero, Jesica; Yubero, Delia; Muchart, Jordi; Delmont, Emilien; Õiglane-Shlik, Eve; Meren, Teele; Puusepp, Sanna; Murumets, Ülle; Salomons, Gajja S.; Udd, Bjarne; Väli, Liis; Cantarero, Lara; Bönnemann, Carsten G.; Nascimento, Andrés; Ramón-Maiques, Santiago; Õunap, Katrin; Hoenicka, Janet; Natera-de Benito, Daniel; Palau, Francesc (15.12.2025)
      article
      Objective: Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl-tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial ...