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Marie Burstedt

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Advances in Experimental Medicine and Biology|March 19, 2010
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern SwedenIrina Golovleva, Linda Köhn, Marie Burstedt, et al.
Molecular Vision|November 13, 2018
Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in <i>MERTK</i> causing severe retinitis pigmentosaFrida Jonsson, Marie Burstedt, Therese G Kellgren, et al.
Acta Ophthalmologica|June 14, 2014
The response of the neuronal adaptive system to background illumination and readaptation to dark in the immature retinaLing Wang, Mildred El Azazi, Anders Eklund, et al.
Acta Ophthalmologica|May 4, 2012
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variationsMarie Burstedt, Frida Jonsson, Linda Köhn, et al.
Scientific Reports|April 9, 2021
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern SwedenIda Maria Westin, Frida Jonsson, Lennart Österman, et al.
Acta Ophthalmologica|February 21, 2018
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicingFrida Jonsson, Ida Maria Westin, Lennart Österman, et al.
Advances in Therapy|May 7, 2020
Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP)Jane Green, Chloe Tolley, Sarah Bentley, et al.
Nature Communications|September 10, 2024
Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trialAnders Kvanta, Nalini Rangaswamy, Karen Holopigian, et al.
Translational Vision Science & Technology|November 14, 2024
Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History StudyJames Whelan, Jane Green, Marie Burstedt, et al.
Investigative Ophthalmology & Visual Science|October 26, 2023
Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History StudyMarie Burstedt, James H Whelan, Jane S Green, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Advances in Experimental Medicine and Biology|March 19, 2010
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern SwedenIrina Golovleva, Linda Köhn, Marie Burstedt, et al.
Molecular Vision|November 13, 2018
Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in <i>MERTK</i> causing severe retinitis pigmentosaFrida Jonsson, Marie Burstedt, Therese G Kellgren, et al.
Acta Ophthalmologica|June 14, 2014
The response of the neuronal adaptive system to background illumination and readaptation to dark in the immature retinaLing Wang, Mildred El Azazi, Anders Eklund, et al.
Acta Ophthalmologica|May 4, 2012
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variationsMarie Burstedt, Frida Jonsson, Linda Köhn, et al.
Scientific Reports|April 9, 2021
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern SwedenIda Maria Westin, Frida Jonsson, Lennart Österman, et al.
Acta Ophthalmologica|February 21, 2018
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicingFrida Jonsson, Ida Maria Westin, Lennart Österman, et al.
Advances in Therapy|May 7, 2020
Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP)Jane Green, Chloe Tolley, Sarah Bentley, et al.
Nature Communications|September 10, 2024
Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trialAnders Kvanta, Nalini Rangaswamy, Karen Holopigian, et al.
Translational Vision Science & Technology|November 14, 2024
Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History StudyJames Whelan, Jane Green, Marie Burstedt, et al.
Investigative Ophthalmology & Visual Science|October 26, 2023
Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History StudyMarie Burstedt, James H Whelan, Jane S Green, et al.
Pageof 1