Clinical and molecular studies of mitochondrial DNA polymerase gamma (POLG) associated disease.
- Prosjektnummer
- 911374
- Ansvarlig person
- Charalampos Tzoulis
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskerutdanning - dr.grad
- Helsekategori
- Neurological
- Forskningsaktivitet
- 2. Aetiology
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
Brain 2010 May;133(Pt 5):1428-37. Epub 2010 apr 16
PMID: 20400524 - Inngår i doktorgradsavhandlingen
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.
Biochim Biophys Acta 2010 Jun;1802(6):539-44. Epub 2010 mar 4
PMID: 20206689
Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.
Acta Neurol Scand Suppl 2009.
PMID: 19566497
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy.
Epilepsy Behav 2009 Sep;16(1):172-4. Epub 2009 jan 28
PMID: 19435586
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
Stroke 2009 Feb;40(2):e15-7. Epub 2008 des 18
PMID: 19095975
Melas associated with mutations in the polg1 gene.
Neurology 2008 Mar;70(13):1054; author reply 1054-5.
PMID: 18362288
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
Brain 2008 Mar;131(Pt 3):818-28. Epub 2008 jan 30
PMID: 18238797
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
J Neurol 2008 Aug;255(8):1142-4. Epub 2008 jun 23
PMID: 18563470
Clinical and molecular studies of disease caused by mutations of the mitochondrial DNA polymerase gamma (POLG)
- Disputert:
- november 2010
- Hovedveileder:
- Laurence Bindoff
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
Alle henvendelser rettes til Faglig rapportering, Helse Vest