Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
Jan Senderek(Friedrich Baur Stiftung), Klaus Zerres(RWTH Aachen University), Eckhard Buchheim(Klinikum Esslingen), Reinhard Büttner(University Hospital Cologne), Eva Nelis(University of Antwerp), Carsten Bergmann(University Medical Center Freiburg), Andreas Hahn(Justus-Liebig-Universität Gießen), Volker Straub(Newcastle upon Tyne Hospitals NHS Foundation Trust), Mark H. G. Verheijen(Amsterdam Neuroscience), Wolfgang Müller‐Felber(Ludwig-Maximilians-Universität München), Stephan Züchner(University of Miami), Sevim Erdem‐Özdamar(Hacettepe University), Nathalie Verpoorten(University of Antwerp), Gian Maria Fabrizi(University of Verona), Esra Battaloğlu(Boğaziçi University), Kathrin Huehne(Friedrich-Alexander-Universität Erlangen-Nürnberg), Roman Chrast(Karolinska Institutet), Greg Lemke(Salk Institute for Biological Studies), Claudia Stendel(German Center for Neurodegenerative Diseases), Manfred Stuhrmann, Bernd Rautenstrauß(Medical Genetics Center), Sabine Rudnik‐Schöneborn(Innsbruck Medical University), Haluk Topaloğlu(Yeditepe University), Peter De Jonghe(University of Antwerp), Jutta Kirfel(Taipei Institute of Pathology), Jörg Klepper(Boston Children's Hospital), Nicolo’ Rizzuto(University of Verona), J. M. Schröder(Maastricht University), Vincent Timmerman(University of Antwerp), Yeşim Parman(Université Paris-Sud), Ersin Tan(Hacettepe University)
Cited by 213
Related Papers
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis
|New England Journal of Medicine|2018|2.9k
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
|Nature Genetics|2004|1.6k
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809