Gert Van Goethem, Ph.D.
Affiliations: | 2003 | Universiteit Antwerpen (Belgium) |
Area:
Medicine and Surgery, Genetics, OphthalmologyGoogle:
"Gert Van Goethem"Mean distance: 53433
Parents
Sign in to add mentor| J.-J Martin | grad student | 2003 | Universiteit Antwerpen (Belgium) | |
| (The role of polymerase gamma in progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA.) | ||||
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| Neeve VC, Samuels DC, Bindoff LA, et al. (2012) What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain : a Journal of Neurology. 135: 3614-26 |
| Scalais E, Francois B, Schlesser P, et al. (2012) 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. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 16: 542-8 |
| Kurt B, Jaeken J, Van Hove J, et al. (2010) A novel POLG gene mutation in 4 children with alpers-like hepatocerebral syndromes Archives of Neurology. 67: 239-244 |
| Roels F, Verloo P, Eyskens F, et al. (2009) Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. Bmc Clinical Pathology. 9: 4 |
| Vandenberghe W, Van Laere K, Debruyne F, et al. (2009) Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 308-9 |
| Hakonen AH, Davidzon G, Salemi R, et al. (2007) Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. European Journal of Human Genetics : Ejhg. 15: 779-83 |
| Van Goethem G. (2006) Autosomal disorders of mitochondrial DNA maintenance. Acta Neurologica Belgica. 106: 66-72 |
| Wanrooij S, Luoma P, van Goethem G, et al. (2004) Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Research. 32: 3053-64 |
| Van Goethem G, Löfgren A, Dermaut B, et al. (2003) Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Human Mutation. 22: 175-6 |
| Van Goethem G, Martin JJ, Van Broeckhoven C. (2003) Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. Neuromolecular Medicine. 3: 129-46 |