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New pattern of brain MRI lesions in isolated complex I deficiency.
Wolf NI, Seitz A, Harting I, Smeitink JA, Trijbels F, van den Heuvel LP, Schlemmer H, Ebinger F, Evert W, Rating D. Wolf NI, et al. Among authors: harting i. Neuropediatrics. 2003 Jun;34(3):156-9. doi: 10.1055/s-2003-41277. Neuropediatrics. 2003. PMID: 12910441
T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome.
Harting I, Blaschek A, Wolf NI, Seitz A, Haupt M, Goebel HH, Rating D, Sartor K, Ebinger F. Harting I, et al. Neurology. 2004 Dec 28;63(12):2448-9. doi: 10.1212/01.wnl.0000147324.74071.3e. Neurology. 2004. PMID: 15623732 No abstract available.
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.
Wolf NI, Harting I, Boltshauser E, Wiegand G, Koch MJ, Schmitt-Mechelke T, Martin E, Zschocke J, Uhlenberg B, Hoffmann GF, Weber L, Ebinger F, Rating D. Wolf NI, et al. Among authors: harting i. Neurology. 2005 Apr 26;64(8):1461-4. doi: 10.1212/01.WNL.0000158615.56071.E3. Neurology. 2005. PMID: 15851747
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: harting i. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977
73 results