Burstedt, Marie Si
Mönestam, Eva
|
Self-reported quality of life in patients with retinitis pigmentosa and maculopathy of Bothnia type.
Clinical ophthalmology (Auckland, N.Z.),
4: 147-154
|
2010
|
-
|
Burstedt, Marie
Golovleva, Irina
|
Central Retinal Findings in Bothnia Dystrophy Caused by RLBP1 Sequence Variation
Archives of ophthalmology (1960),
128(8): 989-995
|
2010
|
-
|
Golovleva, Irina
Köhn, Linda
Burstedt, Marie; et al.
|
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern sweden.
Advances in Experimental Medicine and Biology,
664: 255-262
|
2010
|
-
|
Burstedt, Marie S I
Ristoff, Ellinor
Larsson, Agne; et al.
|
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
Ophthalmology,
116(2): 324-331
|
2009
|
-
|
Köhn, Linda
Bowne, Sara J
S Sullivan, Lori; et al.
|
Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
European Journal of Human Genetics,
17(5): 651-655
|
2009
|
-
|
Köhn, Linda
Bowne, Sara J
Daiger, Stephen P; et al.
|
Breakpoint characterization of a novel ~59 kb genomic deletion on 19q13.42 in autosomal dominant retinitis pigmentosa with reduced penetrance
European Journal of Human Genetics,
17(5): 651-655
|
2009
|
-
|
Burstedt, Marie S I
Sandgren, Ola
Golovleva, Irina; et al.
|
Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study.
Doc Ophthalmol,
116(3): 193-205
|
2008
|
-
|
Köhn, Linda
Burstedt, Marie SI
Jonsson, Frida; et al.
|
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1
Investigative Ophthalmology and Visual Science,
49(7): 3172-3177
|
2008
|
-
|
Köhn, Linda
Kadzhaev, Konstantin
Burstedt, Marie S I; et al.
|
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Recent Advances in Retinal Degeneration: 229-234
|
2008
|
-
|
Ristoff, E
Burstedt, Marie
Larsson, A; et al.
|
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency
J Inherit Metab Dis,
30(1): 102-
|
2007
|
-
|
