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Page 1
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
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy.
Wolf NI, Harting I, Innes AM, Patzer S, Zeitler P, Schneider A, Wolff A, Baier K, Zschocke J, Ebinger F, Boltshauser E, Rating D. Wolf NI, et al. Among authors: harting i. Neuropediatrics. 2007 Apr;38(2):64-70. doi: 10.1055/s-2007-985137. Neuropediatrics. 2007. PMID: 17712733
Abnormal myelination in Angelman syndrome.
Harting I, Seitz A, Rating D, Sartor K, Zschocke J, Janssen B, Ebinger F, Wolf NI. Harting I, et al. Eur J Paediatr Neurol. 2009 May;13(3):271-6. doi: 10.1016/j.ejpn.2008.04.005. Epub 2008 Jun 24. Eur J Paediatr Neurol. 2009. PMID: 18573670
75 results