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Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L. Scalais E, et al. Among authors: van goethem g, van coster r. Eur J Paediatr Neurol. 2012 Sep;16(5):542-8. doi: 10.1016/j.ejpn.2012.01.013. Epub 2012 Feb 17. Eur J Paediatr Neurol. 2012. PMID: 22342071
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L. Scalais E, et al. Among authors: van coster r. Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28. Eur J Paediatr Neurol. 2013. PMID: 23816342
Infantile presentation of the mitochondrial A8344G mutation.
Scalais E, Nuttin C, Seneca S, Smet J, De Paepe B, Martin JJ, Stevens R, Pierart F, Battisti O, Lissens W, De Meirleir L, Van Coster R. Scalais E, et al. Among authors: van coster r. Eur J Neurol. 2007 Nov;14(11):e3-5. doi: 10.1111/j.1468-1331.2007.01926.x. Eur J Neurol. 2007. PMID: 17956438 Free article. No abstract available.
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.
Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P. Dermaut B, et al. Among authors: van paesschen w, van coster r. J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3. doi: 10.1136/jnnp.2008.157354. J Neurol Neurosurg Psychiatry. 2010. PMID: 20019223
204 results