Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study

by Adela Della Marina, Eva Wibbeler, Angela Abicht, Angela Abicht, Heike Kölbel, Hanns Lochmüller, Hanns Lochmüller, Hanns Lochmüller, Andreas Roos, Ulrike Schara
Published 2020-12-01

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

by Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Published 2018-11-01

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain

by Jianying Huang, Jianying Huang, Mark Estacion, Mark Estacion, Peng Zhao, Peng Zhao, Fadia B. Dib-Hajj, Fadia B. Dib-Hajj, Betsy Schulman, Betsy Schulman, Angela Abicht, Angela Abicht, Ingo Kurth, Knut Brockmann, Stephen G. Waxman, Stephen G. Waxman, Sulayman D. Dib-Hajj, Sulayman D. Dib-Hajj
Published 2019-09-01

ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

by Anne K. Braczynski, Stefan Vlaho, Klaus Müller, Ilka Wittig, Anna-Eva Blank, Dominique S. Tews, Ulrich Drott, Stephanie Kleinle, Angela Abicht, Rita Horvath, Karl H. Plate, Werner Stenzel, Hans H. Goebel, Andreas Schulze, Patrick N. Harter, Matthias Kieslich, Michel Mittelbronn
Published 2015-01-01