Tracing Myelin Protein Zero (P0) in vivo by construction of P0-GFP fusion proteins

by Ekici, Arif B, Oezbey, Sevinc, Fuchs, Christina, Nelis, Eva, Van Broeckhoven, Christine, Schachner, Melitta, Rautenstrauss, Bernd
Published 2002

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes

by Schreiber, Olivia, Schneiderat, Peter, Kress, Wolfram, Rautenstrauss, Bernd, Senderek, Jan, Schoser, Benedikt, Walter, Maggie C
Published 2013

MFN2 mutations cause compensatory mitochondrial DNA proliferation

by Sitarz, Kamil S., Yu-Wai-Man, Patrick, Pyle, Angela, Stewart, Joanna D., Rautenstrauss, Bernd, Seeman, Pavel, Reilly, Mary M., Horvath, Rita, Chinnery, Patrick F.
Published 2012

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

by Liu, Pengfei, Walter, Klaudia, Writzl, Karin, Gelowani, Violet, Lindsay, Sarah, Carvalho, Claudia MB, Withers, Marjorie, Wiszniewska, Joanna, Patel, Ankita, Rautenstrauss, Bernd, Hurles, Matthew E, Lupski, James R
Published 2012

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

by Boizot, Alexia, Talmat-Amar, Yasmina, Morrogh, Deborah, Kuntz, Nancy L, Halbert, Cecile, Chabrol, Brigitte, Houlden, Henry, Stojkovic, Tanya, Schulman, Brenda A, Rautenstrauss, Bernd, Bomont, Pascale
Published 2014