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Page 1
Cerebral folate deficiency: a neurometabolic syndrome?
Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K, Häusler M. Mangold S, et al. Among authors: zerres k. Mol Genet Metab. 2011 Nov;104(3):369-72. doi: 10.1016/j.ymgme.2011.06.004. Epub 2011 Jun 14. Mol Genet Metab. 2011. PMID: 21737328
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC. Wan J, et al. Among authors: zerres k. Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254. Nat Genet. 2012. PMID: 22544365 Free PMC article.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: zerres k. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.
A new case of proximal monosomy 1p36, extending the phenotype.
Rudnik-Schöneborn S, Zerres K, Häusler M, Lott A, Krings T, Schüler HM. Rudnik-Schöneborn S, et al. Among authors: zerres k. Am J Med Genet A. 2008 Aug 1;146A(15):2018-22. doi: 10.1002/ajmg.a.32405. Am J Med Genet A. 2008. PMID: 18627049 No abstract available.
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Senderek J, et al. Among authors: zerres k. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977
396 results