A Diagnostic Centre for mitochondrial disease
- Prosjektnummer
- 911010
- Ansvarlig person
- Laurence Bindoff
- Institusjon
- Universitetet i Bergen
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Forskningsaktivitet
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Neurology 2005 Apr;64(7):1204-8.
PMID: 15824347
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
Am J Hum Genet 2005 Sep;77(3):430-41. Epub 2005 jul 27
PMID: 16080118
A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
Eur J Hum Genet 2004 Jun;12(6):509-12.
PMID: 15054399
Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.
Neuromuscul Disord 2004 Jul;14(7):417-20.
PMID: 15210164
[Muscular diseases in the sun]
Tidsskr Nor Laegeforen 2004 Jul;124(13-14):1754.
PMID: 15229657
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004 Aug 14-20;364(9434):592-6.
PMID: 15313359
Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.
Hum Mol Genet 2003 Sep;12(18):2341-8. Epub 2003 jul 22
PMID: 12915481
116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands.
Neuromuscul Disord 2003 Nov;13(9):757-64.
PMID: 14561500
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Biochem Biopyhs Acta. 2004; 1657:29
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