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Zeitschrift

neurogenetics

neurogenetics 4/2018

Ausgabe 4/2018

Inhaltsverzeichnis ( 6 Artikel )

24.07.2018 | Original Article | Ausgabe 4/2018 Open Access

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

24.07.2018 | Original Article | Ausgabe 4/2018

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

21.10.2018 | Original Article | Ausgabe 4/2018

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

03.11.2018 | Short Communication | Ausgabe 4/2018

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

11.07.2018 | Correction | Ausgabe 4/2018

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

26.11.2018 | Acknowledgement to Referee | Ausgabe 4/2018

Acknowledgement to referees 2017/2018

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