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- 2010
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Mark
Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
(
- Contribution to journal › Article
- 2009
-
Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
(
- Contribution to journal › Article
-
Mark
Physiopathology of retinal degeneration in rd1 mouse model of retinitis pigmentosa : TGF-Β1, proteinases and oxidative stress mechanisms
2009) p.1-41(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2008
-
Mark
rd1 Mouse retina shows an imbalance in the activity of cysteine protease cathepsins and their endogenous inhibitor cystatin C.
(
- Contribution to journal › Article
- 2007
-
Mark
Low glutathione peroxidase in rdl mouse retina increases oxidative stress and proteases
(
- Contribution to journal › Article
- 2006
-
Mark
rd1 Mouse Retina Shows Imbalance in Cellular Distribution and Levels of TIMP-1/MMP-9, TIMP-2/MMP-2 and Sulfated Glycosaminoglycans.
(
- Contribution to journal › Article
- 2005
-
Mark
Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
(
- Contribution to journal › Article
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Mark
Cystatin C uptake in the eye.
(
- Contribution to journal › Article
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Mark
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
(
- Contribution to journal › Article
- 2004
-
Mark
Glutathione S-transferase µ(GST) modifies activities of proteases and levels of cystatin C secreted by mouse retinal explants
(
- Contribution to journal › Published meeting abstract