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neurogenetics

Ausgabe 4/2018

Inhalt (6 Artikel)

Open Access Original Article

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

Original Article

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

Original Article

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

Short Communication

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

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

Acknowledgement to Referee

Acknowledgement to referees 2017/2018

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