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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: martin jj. 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
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. Van Goethem G, et al. Among authors: martin jj. Neurology. 2004 Oct 12;63(7):1251-7. doi: 10.1212/01.wnl.0000140494.58732.83. Neurology. 2004. PMID: 15477547
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.
Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R. Roels F, et al. Among authors: martin jj. BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4. BMC Clin Pathol. 2009. PMID: 19500334 Free PMC article.
Lactic acidosis in a newborn with adrenal calcifications.
Zecic A, Smet JE, De Praeter CM, Vanhaesebrouck P, Viscomi C, Van Den Broecke C, De Paepe B, Lohse P, Martin JJ, Jackson JG, Campbell CR, De Meirleir LJ, Zeviani M, Seneca SH, Lissens W, Van Coster RN. Zecic A, et al. Among authors: martin jj. Pediatr Res. 2009 Sep;66(3):317-22. doi: 10.1203/PDR.0b013e3181b40a80. Pediatr Res. 2009. PMID: 19581830 Free PMC article.
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C. Van Goethem G, et al. Among authors: martin jj. Neuromuscul Disord. 2003 Feb;13(2):133-42. doi: 10.1016/s0960-8966(02)00216-x. Neuromuscul Disord. 2003. PMID: 12565911
743 results