Studies of polymerase-gamma (POLG) disease: investigating mechanisms & designing treatments
- Prosjektnummer
- 911650
- Ansvarlig person
- Charalampos Tzoulis
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskerutdanning - postdoc
- Helsekategori
- Neurological
- Forskningsaktivitet
- 2. Aetiology, 5. Treatment Developement
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
J Neurol 2014 Feb;261(2):358-62. Epub 2013 des 3
PMID: 24297365
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
PLoS One 2014;9(1):e86340. Epub 2014 jan 22
PMID: 24466038
A multicenter study on Leigh syndrome: disease course and predictors of survival.
Orphanet J Rare Dis 2014;9():52. Epub 2014 apr 15
PMID: 24731534
Molecular pathogenesis of polymerase ?-related neurodegeneration.
Ann Neurol 2014 Jul;76(1):66-81. Epub 2014 jun 14
PMID: 24841123
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PLoS One 2013;8(6):e66145. Epub 2013 jun 13
PMID: 23785480
Progressive striatal necrosis associated with anti-NMDA receptor antibodies.
BMC Neurol 2013;13():55. Epub 2013 mai 31
PMID: 23725534
Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.
Brain 2013 Aug;136(Pt 8):2393-404. Epub 2013 apr 26
PMID: 23625061
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Orphanet J Rare Dis 2013;8():1. Epub 2013 jan 3
PMID: 23286897
Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.
Brain 2012 Dec;135(Pt 12):3627-34. Epub 2012 okt 12
PMID: 23065482
Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population.
Mitochondrion 2012 Nov;12(6):640-3. Epub 2012 aug 29
PMID: 22963882
Erdheim-Chester disease presenting with an intramedullary spinal cord lesion.
J Neurol 2012 Oct;259(10):2240-2. Epub 2012 mai 26
PMID: 22638564
Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.
J Neurol 2012 Feb;259(2):292-6. Epub 2011 jul 27
PMID: 21792730
Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway.
ACNR 2011
- Charalampos Tzoulis Postdoktor
- Laurence Bindoff Leder av forskningsgruppe
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