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Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
Müller A, Helbig I, Jansen C, Bast T, Guerrini R, Jähn J, Muhle H, Auvin S, Korenke GC, Philip S, Keimer R, Striano P, Wolf NI, Püst B, Thiels Ch, Fogarasi A, Waltz S, Kurlemann G, Kovacevic-Preradovic T, Ceulemans B, Schmitt B, Philippi H, Tarquinio D, Buerki S, von Stülpnagel C, Kluger G. Müller A, et al. Among authors: wolf ni. Eur J Paediatr Neurol. 2016 Jan;20(1):147-51. doi: 10.1016/j.ejpn.2015.09.001. Epub 2015 Sep 10. Eur J Paediatr Neurol. 2016. PMID: 26387070
Epilepsy in inborn errors of metabolism.
Wolf NI, Bast T, Surtees R. Wolf NI, et al. Epileptic Disord. 2005 Jun;7(2):67-81. Epileptic Disord. 2005. PMID: 15929908 Free article. Review.
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J. Hoffmann GF, et al. Among authors: wolf ni. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. J Inherit Metab Dis. 2007. PMID: 17216302
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.
Outcome of severe unilateral cerebellar hypoplasia.
Poretti A, Limperopoulos C, Roulet-Perez E, Wolf NI, Rauscher C, Prayer D, Müller A, Weissert M, Kotzaeridou U, Du Plessis AJ, Huisman TA, Boltshauser E. Poretti A, et al. Among authors: wolf ni. Dev Med Child Neurol. 2010 Aug;52(8):718-24. doi: 10.1111/j.1469-8749.2009.03522.x. Epub 2009 Oct 23. Dev Med Child Neurol. 2010. PMID: 19863638 Free article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
214 results