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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2158, doi. 10.1002/ajmg.a.36046
By:
- Dikow, Nicola;
- Maas, Bianca;
- Gaspar, Harald;
- Kreiss ‐ Nachtsheim, Martina;
- Engels, Hartmut;
- Kuechler, Alma;
- Garbes, Lutz;
- Netzer, Christian;
- Neuhann, Teresa M.;
- Koehler, Udo;
- Casteels, Kristina;
- DevriENdt, KoEN;
- JanssEN, Johannes W.G.;
- Jauch, Anna;
- Hinderhofer, Katrin;
- Moog, Ute
Publication type:
Article
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
Published in:
Human Genetics, 2008, v. 123, n. 2, p. 141, doi. 10.1007/s00439-007-0455-7
By:
- Brichta, Lars;
- Garbes, Lutz;
- Jedrzejowska, Maria;
- Grellscheid, Sushma-Nagaraja;
- Holker, Irmgard;
- Zimmermann, Katharina;
- Wirth, Brunhilde
Publication type:
Article
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 643, doi. 10.1038/ejhg.2012.222
By:
- Schreml, Julia;
- Riessland, Markus;
- Paterno, Mario;
- Garbes, Lutz;
- Roßbach, Kristina;
- Ackermann, Bastian;
- Krämer, Jan;
- Somers, Eilidh;
- Parson, Simon H;
- Heller, Raoul;
- Berkessel, Albrecht;
- Sterner-Kock, Anja;
- Wirth, Brunhilde
Publication type:
Article
RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
Published in:
2013
By:
- Schnurbein, Gioia;
- Hauke, Jan;
- Wappenschmidt, Barbara;
- Weber-Lassalle, Nana;
- Engert, Stefanie;
- Hellebrand, Heide;
- Garbes, Lutz;
- Becker, Alexandra;
- Neidhardt, Guido;
- Rhiem, Kerstin;
- Meindl, Alfons;
- Schmutzler, Rita K;
- Hahnen, Eric
Publication type:
Letter
VPA response in SMA is suppressed by the fatty acid translocase CD36.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 2, p. 398, doi. 10.1093/hmg/dds437
By:
- Garbes, Lutz;
- Heesen, Ludwig;
- Hölker, Irmgard;
- Bauer, Tim;
- Schreml, Julia;
- Zimmermann, Katharina;
- Thoenes, Michaela;
- Walter, Michael;
- Dimos, John;
- Peitz, Michael;
- Brüstle, Oliver;
- Heller, Raoul;
- Wirth, Brunhilde
Publication type:
Article
A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene.
Published in:
2014
By:
- Lohkamp, Laura Nanna;
- Au, Katja von;
- Goebel, Hans-Hilmar;
- Kress, Wolfram;
- Grieben, Ulrike;
- Drossel, Karin;
- Garbes, Lutz;
- Wirth, Brunhilde;
- Heppner, Frank L.;
- Stenzel, Werner
Publication type:
Case Study
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 8, p. 1492, doi. 10.1093/hmg/ddq023
By:
- Riessland, Markus;
- Ackermann, Bastian;
- Förster, Anja;
- Jakubik, Miriam;
- Hauke, Jan;
- Garbes, Lutz;
- Fritzsche, Ina;
- Mende, Ylva;
- Blumcke, Ingmar;
- Hahnen, Eric;
- Wirth, Brunhilde
Publication type:
Article
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 19, p. 3645, doi. 10.1093/hmg/ddp313
By:
- Garbes, Lutz;
- Riessland, Markus;
- Hölker, Irmgard;
- Heller, Raoul;
- Hauke, Jan;
- Tränkle, Christian;
- Coras, Roland;
- Blümcke, Ingmar;
- Hahnen, Eric;
- Wirth, Brunhilde
Publication type:
Article
A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset.
Published in:
Journal of Bone & Mineral Research, 2014, v. 29, n. 6, p. 1387, doi. 10.1002/jbmr.2156
By:
- Hoyer-Kuhn, Heike;
- Semler, Oliver;
- Garbes, Lutz;
- Zimmermann, Katharina;
- Becker, Jutta;
- Wollnik, Bernd;
- Schoenau, Eckhard;
- Netzer, Christian
Publication type:
Article

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