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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
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. 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. Among authors: wolf ni. 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. Neurology. 2005 Apr 26;64(8):1461-4. doi: 10.1212/01.WNL.0000158615.56071.E3. Neurology. 2005. PMID: 15851747
Differential diagnosis of cerebellar atrophy in childhood.
Poretti A, Wolf NI, Boltshauser E. Poretti A, et al. Among authors: wolf ni. Eur J Paediatr Neurol. 2008 May;12(3):155-67. doi: 10.1016/j.ejpn.2007.07.010. Epub 2007 Sep 14. Eur J Paediatr Neurol. 2008. PMID: 17869142 Review.
225 results