The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25 Alejandro LealSixto Bogantes-LedezmaAndré Reis Original Article Open access 24 July 2018 Pages: 215 - 225
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination Tamar HarelDebra Q. Y. QuekShimon Edvardson Original Article 24 July 2018 Pages: 227 - 235
Ataxia telangiectasia alters the ApoB and reelin pathway Júlia Canet-PonsRalf SchubertUwe Warnken Original Article 21 October 2018 Pages: 237 - 255
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing Peter SparberAndrey MarakhonovMikhail Skoblov Short Communication 03 November 2018 Pages: 257 - 260
Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings R. C. CaylorL. GroteC. J. Saunders Correction 11 July 2018 Pages: 261 - 262