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Consortium of Swiss Academic Libraries

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene

El Matri, Leila ; Ambresin, Aude ; Schorderet, Daniel ; Kawasaki, Aki ; Seeliger, Mathias ; Wenzel, Andreas ; Arsenijevic, Yvan ; Borruat, François‐Xavier ; Munier, Francis

In: Graefe's Archive for Clinical and Experimental Ophthalmology, 2006, vol. 244, no. 9, p. 1104-1112

Consortium of Swiss Academic Libraries

R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal

Samardzija, Marijana ; von Lintig, Johannes ; Tanimoto, Naoyuki ; Oberhauser, Vitus ; Thiersch, Markus ; Remé, Charlotte E. ; Seeliger, Mathias ; Grimm, Christian ; Wenzel, Andreas

In: Human Molecular Genetics, 2008, vol. 17, no. 2, p. 281-292

Consortium of Swiss Academic Libraries

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death

Samardzija, Marijana ; Tanimoto, Naoyuki ; Kostic, Corinne ; Beck, Susanne ; Oberhauser, Vitus ; Joly, Sandrine ; Thiersch, Markus ; Fahl, Edda ; Arsenijevic, Yvan ; von Lintig, Johannes ; Wenzel, Andreas ; Seeliger, Mathias W. ; Grimm, Christian

In: Human Molecular Genetics, 2009, vol. 18, no. 7, p. 1266-1275

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