Sabine Rudnik-Schöneborn
Medical Faculty
Institute of Human Genetics
RWTH Aachen University
Aachen
Germany
Name/email consistency: high
- Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. Rudnik-Schöneborn, S., Takahashi, T., Busse, S., Schmidt, T., Senderek, J., Eggermann, T., Zerres, K. Am. J. Med. Genet. A (2010)
- Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. Rudnik-Schöneborn, S., Hehr, U., von Kalle, T., Bornemann, A., Winkler, J., Zerres, K. Neuropediatrics (2009)
- Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling. Rudnik-Schöneborn, S., Berg, C., Zerres, K., Betzler, C., Grimm, T., Eggermann, T., Eggermann, K., Wirth, R., Wirth, B., Heller, R. Clin. Genet. (2009)
- Congenital heart disease is a feature of severe infantile spinal muscular atrophy. Rudnik-Schöneborn, S., Heller, R., Berg, C., Betzler, C., Grimm, T., Eggermann, T., Eggermann, K., Wirth, R., Wirth, B., Zerres, K. J. Med. Genet. (2008)
- A new case of proximal monosomy 1p36, extending the phenotype. Rudnik-Schöneborn, S., Zerres, K., Häusler, M., Lott, A., Krings, T., Schüler, H.M. Am. J. Med. Genet. A (2008)
- Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype. Rudnik-Schöneborn, S., Weis, J., Kress, W., Häusler, M., Zerres, K. Neuromuscul. Disord. (2008)
- Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. Rudnik-Schöneborn, S., Botzenhart, E., Eggermann, T., Senderek, J., Schoser, B.G., Schröder, R., Wehnert, M., Wirth, B., Zerres, K. Neurogenetics (2007)
- Outcome and effect of pregnancy in myotonic dystrophy type 2. Rudnik-Schöneborn, S., Schneider-Gold, C., Raabe, U., Kress, W., Zerres, K., Schoser, B.G. Neurology (2006)
- Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?. Rudnik-Schöneborn, S., Anhuf, D., Koscielniak, E., Zerres, K. Neuromuscul. Disord. (2005)
- Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature. Rudnik-Schöneborn, S., Zerres, K. Eur. J. Obstet. Gynecol. Reprod. Biol. (2004)
- Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Rudnik-Schöneborn, S., Stolz, P., Varon, R., Grohmann, K., Schächtele, M., Ketelsen, U.P., Stavrou, D., Kurz, H., Hübner, C., Zerres, K. Neuropediatrics (2004)
- Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Rudnik-Schöneborn, S., Sztriha, L., Aithala, G.R., Houge, G., Laegreid, L.M., Seeger, J., Huppke, M., Wirth, B., Zerres, K. Am. J. Med. Genet. A (2003)
- Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. Rudnik-Schöneborn, S., Goebel, H.H., Schlote, W., Molaian, S., Omran, H., Ketelsen, U., Korinthenberg, R., Wenzel, D., Lauffer, H., Kreiss-Nachtsheim, M., Wirth, B., Zerres, K. Neurology (2003)
