Search Results - "Hogan, Vanessa E"
-
1
OPA1 Deficiency Associated with Increased Autophagy in Retinal Ganglion Cells in a Murine Model of Dominant Optic Atrophy
Published in Investigative ophthalmology & visual science (01-06-2009)“…To examine retinal ganglion cell (RGC) and axonal abnormalities in an ENU-induced mutant mouse carrying a protein-truncating nonsense mutation in OPA1…”
Get full text
Journal Article -
2
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
Published in Brain (London, England : 1878) (01-10-2010)“…Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse…”
Get full text
Journal Article -
3
Induction of long-term B-cell depletion in refractory rheumatoid arthritis patients preferentially affects autoreactive more than protective humoral immunity
Published in Arthritis research & therapy (12-03-2012)“…B-cell depletion has become a common treatment strategy in anti-TNF-refractory rheumatoid arthritis (RA). Although the exact mechanism of how B-cell depletion…”
Get full text
Journal Article -
4
Pretreatment synovial transcriptional profile is associated with early and late clinical response in rheumatoid arthritis patients treated with rituximab
Published in Annals of the rheumatic diseases (01-11-2012)“…Personalised healthcare is contingent on the identification of biomarkers that represent disease relevant pathways and predict drug response. The authors aimed…”
Get more information
Journal Article -
5
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy
Published in Biochimica et biophysica acta (01-06-2010)“…Hereditary myopathy with lactic acidosis, or myopathy with exercise intolerance, Swedish type (OMIM # 255125) is caused by mutations in the iron–sulfur cluster…”
Get full text
Journal Article