Marie I. Burstedt

Umea, AC, Sweden

Last Updated: 09/26/2026

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Found 16 publications

Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History Study.

Patient-Reported Outcomes in RLBP1 Retinal Dystrophy: Longitudinal Assessment in a Prospective Natural History Study.

Journal: Translational vision science & technology

Published: November 14, 2024

Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial.

Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial.

Journal: Nature communications

Published: March 26, 2024

Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study.

Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study.

Journal: Investigative ophthalmology & visual science

Published: October 26, 2023

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.

Journal: Scientific reports

Published: November 16, 2020

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP).

Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP).

Journal: Advances in therapy

Published: October 15, 2019

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa.

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa.

Journal: Molecular vision

Published: June 11, 2018

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Journal: Human mutation

Published: May 18, 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 splicing.

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.

Journal: Acta ophthalmologica

Published: July 21, 2017

Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.

Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.

Journal: Advances in experimental medicine and biology

Published: March 26, 2014

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Journal: European journal of human genetics : EJHG

Published: September 12, 2012

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.

Journal: Acta ophthalmologica

Published: May 04, 2012

Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.

Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.

Journal: Archives of ophthalmology (Chicago, Ill. : 1960)

Published: August 11, 2010

Showing 1-12 of 16

Last Updated: 09/26/2026