Issue 4/2018
Content (6 Articles)
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
Alejandro Leal, Sixto Bogantes-Ledezma, Arif B. Ekici, Steffen Uebe, Christian T. Thiel, Heinrich Sticht, Martin Berghoff, Corinna Berghoff, Bernal Morera, Michael Meisterernst, André Reis
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
Tamar Harel, Debra Q. Y. Quek, Bernice H. Wong, Amaury Cazenave-Gassiot, Markus R. Wenk, Hao Fan, Itai Berger, Dorit Shmueli, Avraham Shaag, David L. Silver, Orly Elpeleg, Shimon Edvardson
Ataxia telangiectasia alters the ApoB and reelin pathway
Júlia Canet-Pons, Ralf Schubert, Ruth Pia Duecker, Roland Schrewe, Sandra Wölke, Matthias Kieslich, Martina Schnölzer, Andreas Chiocchetti, Georg Auburger, Stefan Zielen, Uwe Warnken
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing
Peter Sparber, Andrey Marakhonov, Alexandra Filatova, Inna Sharkova, Mikhail Skoblov
Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings
R. C. Caylor, L. Grote, I. Thiffault, E. G. Farrow, L. Willig, S. Soden, S. M. Amudhavalli, A. J. Nopper, K. A. Horii, E. Fleming, J. Jenkins, H. Welsh, M. Ilyas, K. Engleman, A. Abdelmoity, C. J. Saunders