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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: breitbach faller n. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977
Treatment of adductor spasticity with BTX-A in children with CP: a randomized, double-blind, placebo-controlled study.
Mall V, Heinen F, Siebel A, Bertram C, Hafkemeyer U, Wissel J, Berweck S, Haverkamp F, Nass G, Döderlein L, Breitbach-Faller N, Schulte-Mattler W, Korinthenberg R. Mall V, et al. Among authors: breitbach faller n. Dev Med Child Neurol. 2006 Jan;48(1):10-3. doi: 10.1017/S0012162206000041. Dev Med Child Neurol. 2006. PMID: 16359588 Free article. Clinical Trial.