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A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. Kurt B, et al. Among authors: van goethem g, van hove j. Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332. Arch Neurol. 2010. PMID: 20142534 Free PMC article.
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
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: van broeckhoven c. Neurology. 2004 Oct 12;63(7):1251-7. doi: 10.1212/01.wnl.0000140494.58732.83. Neurology. 2004. PMID: 15477547
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Neeve VC, et al. Among authors: van goethem g, van den bosch b. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 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: van zandijcke m, van broeckhoven c. Neuromuscul Disord. 2003 Feb;13(2):133-42. doi: 10.1016/s0960-8966(02)00216-x. Neuromuscul Disord. 2003. PMID: 12565911
40 results