Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

Por Aretz, Stefan, Rautenstrauß, Bernd, Timmerman, Vincent
Publicado em 2010

Localization of mariner DNA Transposons in the Human Genome by PRINS

Por Reiter, Lawrence T., Liehr, Thomas, Rautenstrauss, Bernd, Robertson, Hugh M., Lupski, James R.
Publicado em 1999

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

Por Schreiber, Olivia, Schneiderat, Peter, Kress, Wolfram, Rautenstrauss, Bernd, Senderek, Jan, Schoser, Benedikt, Walter, Maggie C
Publicado em 2013

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

Por Ekici, Arif B, Oezbey, Sevinc, Fuchs, Christina, Nelis, Eva, Van Broeckhoven, Christine, Schachner, Melitta, Rautenstrauss, Bernd
Publicado em 2002

MFN2 mutations cause compensatory mitochondrial DNA proliferation

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

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

Por 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
Publicado no Acta Neuropathol Commun (2014)

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

Por 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
Publicado em 2012

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Por Fernández-Martínez, Lorena, Letteboer, Stef, Mardin, Christian Y, Weisschuh, Nicole, Gramer, Eugen, Weber, Bernhard HF, Rautenstrauss, Bernd, Ferreira, Paulo A, Kruse, Friedrich E, Reis, André, Roepman, Ronald, Pasutto, Francesca
Publicado em 2011

A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3

Por Leal, Alejandro, Morera, Bernal, Del Valle, Gerardo, Heuss, Dieter, Kayser, Corinna, Berghoff, Martin, Villegas, Ramón, Hernández, Erick, Méndez, María, Hennies, Hans Christian, Neundörfer, Bernhard, Barrantes, Ramiro, Reis, André, Rautenstrauss, Bernd
Publicado em 2001

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Por Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, Baets, Jonathan
Publicado no Brain (2015)

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

Por Pehlivan, Davut, Beck, Christine R., Okamoto, Yuji, Harel, Tamar, Akdemir, Zeynep H.C., Jhangiani, Shalini N., Withers, Marjorie A., Goksungur, Meryem Tuba, Carvalho, Claudia M.B., Czesnik, Dirk, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna M., Gibbs, Richard A., Rautenstrauss, Bernd, Sereda, Michael W., Lupski, James R.
Publicado no Genet Med (2015)

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

Por Pasutto, Francesca, Matsumoto, Tomoya, Mardin, Christian Y., Sticht, Heinrich, Brandstätter, Johann H., Michels-Rautenstrauss, Karin, Weisschuh, Nicole, Gramer, Eugen, Ramdas, Wishal D., van Koolwijk, Leonieke M.E., Klaver, Caroline C.W., Vingerling, Johannes R., Weber, Bernhard H.F., Kruse, Friedrich E., Rautenstrauss, Bernd, Barde, Yves-Alain, Reis, André
Publicado em 2009

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Por Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A.J., Gonzaga-Jauregui, Claudia, Towne, Charles F., Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R.
Publicado em 2010

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25...

Por Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado em 2009

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25...

Por Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael Werner, Stassart, Ruth Martha, zu Horste, Gerd Meyer, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd
Publicado em 2009

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Por Senderek, Jan, Bergmann, Carsten, Stendel, Claudia, Kirfel, Jutta, Verpoorten, Nathalie, De Jonghe, Peter, Timmerman, Vincent, Chrast, Roman, H. G. Verheijen, Mark, Lemke, Greg, Battaloglu, Esra, Parman, Yesim, Erdem, Sevim, Tan, Ersin, Topaloglu, Haluk, Hahn, Andreas, Müller-Felber, Wolfgang, Rizzuto, Nicolò, Fabrizi, Gian Maria, Stuhrmann, Manfred, Rudnik-Schöneborn, Sabine, Züchner, Stephan, Michael Schröder, J., Buchheim, Eckhard, Straub, Volker, Klepper, Jörg, Huehne, Kathrin, Rautenstrauss, Bernd, Büttner, Reinhard, Nelis, Eva, Zerres, Klaus
Publicado em 2003

An organismal CNV mutator phenotype restricted to early human development

Por Liu, Pengfei, Yuan, Bo, Carvalho, Claudia M.B., Wuster, Arthur, Walter, Klaudia, Zhang, Ling, Gambin, Tomasz, Chong, Zechen, Campbell, Ian M., Akdemir, Zeynep Coban, Gelowani, Violet, Writzl, Karin, Bacino, Carlos A., Lindsay, Sarah, Withers, Marjorie, Gonzaga-Jauregui, Claudia, Wiszniewska, Joanna, Scull, Jennifer, Stankiewicz, Pawel, Jhangiani, Shalini N., Muzny, Donna M., Zhang, Feng, Chen, Ken, Gibbs, Richard A., Rautenstrauss, Bernd, Cheung, Sau Wai, Smith, Janice, Breman, Amy, Shaw, Chad A., Patel, Ankita, Hurles, Matthew E., Lupski, James R.
Publicado no Cell (2017)