Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2 Shan LinLiu-Qing XuJin He Original Article 12 December 2019 Pages: 79 - 86
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey Chiara TicciFederico SiccaFilippo M. Santorelli Original Article 03 January 2020 Pages: 87 - 96
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams Peiwei ZhaoXuehua PengXuelian He Original Article 10 January 2020 Pages: 97 - 104
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease Katarzyna Hetmańczyk-SawickaRoksana Iwanicka-NowickaAgnieszka Ługowska Original Article 11 January 2020 Pages: 105 - 119
POLR3A variants with striatal involvement and extrapyramidal movement disorder Inga HartingMurtadha Al-SaadyNicole I. Wolf Original Article Open access 15 January 2020 Pages: 121 - 133
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype Matias MorinAnna-Lena ForstMiguel Angel Moreno-Pelayo Short Communication 15 February 2020 Pages: 135 - 143
Of cognition and cerebellum in SCA48 Giovanna De MicheleElena SalvatoreFilippo M. Santorelli Letter to Editor 03 February 2020 Pages: 145 - 146
Reply to letter to the editor by De Michele et al A. Nazli Basak Letter to Editor 06 February 2020 Pages: 147 - 147