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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: rating d. Neurology. 2005 Apr 26;64(8):1461-4. doi: 10.1212/01.WNL.0000158615.56071.E3. Neurology. 2005. PMID: 15851747
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. Among authors: rating d. 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
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: rating d. Neurology. 2004 Dec 28;63(12):2448-9. doi: 10.1212/01.wnl.0000147324.74071.3e. Neurology. 2004. PMID: 15623732 No abstract available.
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: rating d. Neuropediatrics. 2007 Apr;38(2):64-70. doi: 10.1055/s-2007-985137. Neuropediatrics. 2007. PMID: 17712733
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.
146 results