| Year |
Citation |
Score |
| 2012 |
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, et al. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain : a Journal of Neurology. 135: 3614-26. PMID 23250882 DOI: 10.1093/Brain/Aws298 |
0.569 |
|
| 2012 |
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. 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. PMID 22342071 DOI: 10.1016/j.ejpn.2012.01.013 |
0.396 |
|
| 2010 |
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. A novel POLG gene mutation in 4 children with alpers-like hepatocerebral syndromes Archives of Neurology. 67: 239-244. PMID 20142534 DOI: 10.1001/archneurol.2009.332 |
0.365 |
|
| 2009 |
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. Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. Bmc Clinical Pathology. 9: 4. PMID 19500334 DOI: 10.1186/1472-6890-9-4 |
0.372 |
|
| 2009 |
Vandenberghe W, Van Laere K, Debruyne F, Van Broeckhoven C, Van Goethem G. Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 308-9. PMID 18973250 DOI: 10.1002/mds.22198 |
0.447 |
|
| 2007 |
Hakonen AH, Davidzon G, Salemi R, Bindoff LA, Van Goethem G, Dimauro S, Thorburn DR, Suomalainen A. 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. PMID 17426723 DOI: 10.1038/sj.ejhg.5201831 |
0.452 |
|
| 2006 |
Van Goethem G. Autosomal disorders of mitochondrial DNA maintenance. Acta Neurologica Belgica. 106: 66-72. PMID 16898256 |
0.594 |
|
| 2004 |
Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Research. 32: 3053-64. PMID 15181170 DOI: 10.1093/nar/gkh634 |
0.539 |
|
| 2003 |
Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Human Mutation. 22: 175-6. PMID 12872260 DOI: 10.1002/Humu.10246 |
0.444 |
|
| 2003 |
Van Goethem G, Martin JJ, Van Broeckhoven C. 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. PMID 12835509 DOI: 10.1385/NMM:3:3:129 |
0.542 |
|
| 2003 |
Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. European Journal of Human Genetics : Ejhg. 11: 547-9. PMID 12825077 DOI: 10.1038/Sj.Ejhg.5201002 |
0.627 |
|
| 2002 |
Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. Acta Neurologica Belgica. 102: 39-42. PMID 12094562 |
0.532 |
|
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