1. The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

   • Alejandro Leal
   • Sixto Bogantes-Ledezma
   • André Reis

   Original Article Open access 24 July 2018 Pages: 215 - 225

   

2. Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

   • Tamar Harel
   • Debra Q. Y. Quek
   • Shimon Edvardson

   Original Article 24 July 2018 Pages: 227 - 235

   

3. Ataxia telangiectasia alters the ApoB and reelin pathway

   • Júlia Canet-Pons
   • Ralf Schubert
   • Uwe Warnken

   Original Article 21 October 2018 Pages: 237 - 255

   

4. Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing

   • Peter Sparber
   • Andrey Marakhonov
   • Mikhail Skoblov

   Short Communication 03 November 2018 Pages: 257 - 260

   

5. Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

   • R. C. Caylor
   • L. Grote
   • C. J. Saunders

   Correction 11 July 2018 Pages: 261 - 262

6. Acknowledgement to referees 2017/2018

   Acknowledgement to Referee 26 November 2018 Pages: 263 - 264