Marie Burstedt

Kontakt

marie.burstedt@umu.se

Verksam vid

Anknuten som forskare till Institutionen för klinisk vetenskap Enhet: Oftalmiatrik

4 - 7 tr, Ögonkliniken, Norrlands universitetssjukhus Umeå universitet, Klinisk vetenskap, Oftalmiatrik, 901 85 Umeå

Publikationer Publikationer

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

Nature Communications, Springer Nature 2024, Vol. 15, (1)

Kvanta, Anders; Rangaswamy, Nalini; Holopigian, Karen; et al.

Patient-reported outcomes in RLBP1 retinal dystrophy: longitudinal assessment in a prospective natural history study

Translational Vision Science & Technology, Association for Research in Vision and Ophthalmology (ARVO) 2024, Vol. 13, (11)

Whelan, James; Green, Jane; Burstedt, Marie; et al.

Patient-reported outcomes in RLBP1 retinal dystrophy: longitudinal assessment in a prospective natural history study

Translational Vision Science & Technology, Association for Research in Vision and Ophthalmology (ARVO) 2024, Vol. 13, (11) : 1-14

Whelan, James; Green, Jane; Burstedt, Marie; et al.

Retinal dystrophy associated with RLBP1 retinitis pigmentosa: a five-year prospective natural history study

Investigative Ophthalmology and Visual Science, Association for Research in Vision and Ophthalmology (ARVO) 2023, Vol. 64, (13)

Burstedt, Marie; Whelan, James H.; Green, Jane S.; et al.

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

Scientific Reports, Nature Publishing Group 2021, Vol. 11, (1)

Westin, Ida Maria; Jonsson, Frida; Österman, Lennart; et al.

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

Advances in Therapy, Springer 2020, Vol. 37, (6) : 2884-2901

Green, Jane; Tolley, Chloe; Bentley, Sarah; et al.

Phenotypic expression of EYS mutations in patients with autosomal recessive retinitis pigmentosa in northern Sweden

Investigative Ophthalmology and Visual Science, The Association for Research in Vision and Ophthalmology, Inc. 2018, Vol. 59, (9)

Burstedt, Marie; Jonsson, Frida; Westin, Ida Maria; et al.

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

Molecular Vision, Vol. 24 : 667-678

Jonsson, Frida; Burstedt, Marie; Kellgren, Therese; et al.

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

Acta Ophthalmologica, John Wiley & Sons 2018, Vol. 96, (7) : 737-743

Jonsson, Frida; Westin, Ida Maria; Österman, Lennart; et al.

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

Human Mutation, John Wiley & Sons 2018, Vol. 39, (10) : 1366-1371

Weisschuh, Nicole; Stingl, Katarina; Audo, Isabelle; et al.

Qualitative interviews to inform development of a patient reported outcome (PRO) strategy in RLBP1 retinitis pigmentosa (RLBP1 RP)

Value in Health, ELSEVIER SCIENCE INC 2017, Vol. 20, (9) : A761-A761

Tolley, C.; Mullins, A.; Kilgariff, S.; et al.

Heterogeneity and complexity of EYS mutations in autosomal recessive retinitis pigmentosa in northern Sweden

Investigative Ophthalmology and Visual Science, ASSOC RESEARCH VISION OPHTHALMOLOGY INC 2016, Vol. 57, (12)

Golovleva, Irina; Jonsson, Frida; Burstedt, Marie

The response of the neuronal adaptive system to background illumination and readaptation to dark in the immature retina

Acta Ophthalmologica, Vol. 93, (2) : 146-153

Wang, Ling; el Azazi, Mildred; Eklund, Anders; et al.

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

Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, Springer Berlin/Heidelberg 2014 : 177-183

Jonsson, Frida; Burstedt, Marie S; Sandgren, Ola; et al.

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

Acta Ophthalmologica, Vol. 91, (5) : 437-444

Burstedt, Marie; Jonsson, Frida; Köhn, Linda; et al.

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

European Journal of Human Genetics, Nature Publishing Group 2013, Vol. 21, (11) : 1266-1271

Jonsson, Frida; Burstedt, Marie S; Sandgren, Ola; et al.

Central Retinal Findings in Bothnia Dystrophy Caused by RLBP1 Sequence Variation

Archives of ophthalmology (1960), American Medical Association 2010, Vol. 128, (8) : 989-995

Burstedt, Marie; Golovleva, Irina

Self-reported quality of life in patients with retinitis pigmentosa and maculopathy of Bothnia type.

Clinical ophthalmology (Auckland, N.Z.), Vol. 4 : 147-154

Burstedt, Marie Si; Mönestam, Eva

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern sweden.

Advances in Experimental Medicine and Biology, Vol. 664 : 255-262

Golovleva, Irina; Köhn, Linda; Burstedt, Marie; et al.

Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.

Ophthalmology, Vol. 116, (2) : 324-331

Burstedt, Marie S I; Ristoff, Ellinor; Larsson, Agne; 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, Nature publishing group 2009, Vol. 17, (5) : 651-655

Köhn, Linda; Bowne, Sara J; Daiger, Stephen P; 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, Vol. 17, (5) : 651-655

Köhn, Linda; Bowne, Sara J; S Sullivan, Lori; et al.

Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study.

Doc Ophthalmol, Vol. 116, (3) : 193-205

Burstedt, Marie S I; Sandgren, Ola; Golovleva, Irina; 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, Association for Research in Vision and Ophthalmology 2008, Vol. 49, (7) : 3172-3177

Köhn, Linda; Burstedt, Marie SI; Jonsson, Frida; 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, Springer 2008 : 229-234

Köhn, Linda; Kadzhaev, Konstantin; Burstedt, Marie S I; et al.

Tinted contact lenses in Bothnia dystrophy.

Acta Ophthalmologica Scandinavica, Vol. 85, (5) : 534-539

Jonsson, Asa C; Burstedt, Marie S I; Golovleva, Irina; et al.

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

European Journal of Human Genetics, Nature publishing group 2007, Vol. 15, (6) : 664-671

Köhn, Linda; Kadzhaev, Konstantin; Burstedt, Marie SI; et al.

Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency

J Inherit Metab Dis, Vol. 30, (1) : 102-

Ristoff, E; Burstedt, Marie; Larsson, A; et al.

Associations between specific measures of vision and vision-related quality of life in patients with bothnia dystrophy, a defined type of retinitis pigmentosa.

Retina, Lippincott, Williams & Wilkins 2005, Vol. 25, (3) : 317-323

Burstedt, Marie S; Mönestam, Eva; Sandgren, Ola

Retinal function in Bothnia dystrophy. An electrophysiological study.

Vision Research, Vol. 43, (24) : 2559-2571

Burstedt, Marie S I; Sandgren, Ola; Golovleva, Irina; et al.

Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions

Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology 2003, Vol. 278, (14) : 12397-12402

Golovleva, Irina; Bhattacharya, Sanjoy; Wu, Zhiping; et al.

Association between specific measures of vision and Vision-Related Quality of life in patients with Bothnia Dystrophy, a defined type of retinitis pigmentosa.

Burstedt, Marie; Mönestam, Eva; Sandgren, Ola

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