Concepedia
Statistics
Publications
20
Citations
683
H-Index
17
Active since
1999
Affiliations
Umeå University(Current)
Karolinska Institutet
Cleveland Eye Clinic
The University of Texas Health Science Center at Houston
Cleveland Clinic
Marie Burstedt is an author at Umeå University specializing in medicine, genetics, and human genetics.
Publications per year
1999–2024
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
Marie Burstedt, Ola Sandgren, Gösta Holmgren et al. · PubMed · 1999 · 130 citations
Medicine, Genetics, Molecular Genetics +17
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Marie Burstedt, Kristina Forsman‐Semb, Irina Golovleva et al. · PubMed · 2001 · 77 citations
Medicine, Ophthalmology, Optometry +17
Disease-causing Mutations in the Cellular Retinaldehyde Binding Protein Tighten and Abolish Ligand Interactions
Irina Golovleva, Sanjoy K. Bhattacharya, Zhiping Wu et al. · Journal of Biological Chemistry · 2003 · 73 citations · Full text
Life Sciences, Genetics, Molecular Biology +9
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families
Linda M. Kohn, Konstantin Kadzhaev, Marie Burstedt et al. · European Journal of Human Genetics · 2007 · 64 citations
Life Sciences, Genetics, Molecular Genetics +4
ASSOCIATIONS BETWEEN SPECIFIC MEASURES OF VISION AND VISION-RELATED QUALITY OF LIFE IN PATIENTS WITH BOTHNIA DYSTROPHY, A DEFINED TYPE OF RETINITIS PIGMENTOSA
Marie Burstedt, Eva Mönestam, Ola Sandgren · Retina · 2005 · 35 citations
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