M. Burstedt

发表

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

O. Sandgren, I. Golovleva, A. Norberg, 2013, European Journal of Human Genetics.

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

I. Golovleva, M. Burstedt, Marie S. I. Burstedt, 2010, Archives of ophthalmology.

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

C. Spera, K. Holopigian, Jane S Green, 2020, Advances in Therapy.

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

L. Österman, M. Holmberg, I. Golovleva, 2020, Scientific Reports.

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

O. Sandgren, I. Golovleva, A. Norberg, 2014, Advances in experimental medicine and biology.

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.

O. Sandgren, K. Forsman-Semb, I. Golovleva, 2001, Archives of ophthalmology.

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

O. Sandgren, B. Hallberg, I. Golovleva, 2007, European Journal of Human Genetics.

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

A. Eklund, L. Wachtmeister, M. Burstedt, 2015, Acta ophthalmologica.

Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.

O. Sandgren, I. Golovleva, M. Burstedt, 2008, Investigative ophthalmology & visual science.

Disease-causing Mutations in the Cellular Retinaldehyde Binding Protein Tighten and Abolish Ligand Interactions* 210

J. Qin, G. Holmgren, O. Sandgren, 2003, The Journal of Biological Chemistry.

Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.

G. Holmgren, O. Sandgren, M. Burstedt, 1999, Investigative ophthalmology & visual science.

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

A. Green, K. Stingl, J. Heckenlively, 2018, Human mutation.

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

Therese G. Kellgren, I. Golovleva, M. Burstedt, 2018, Molecular vision.

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

A. Larsson, E. Ristoff, L. Wachtmeister, 2009, Ophthalmology.

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

I. Golovleva, Magnus Burstedt, M. Burstedt, 2013, Acta ophthalmologica.

Retinitis Pigmentosa in Northern Sweden - From Gene to Treatment

I. Golovleva, M. Burstedt, Marie S. I. Burstedt, 2012 .

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

M. Burstedt, E. Mönestam, 2010, Clinical ophthalmology.

Carrier of R 14 W in Carbonic Anhydrase IV Presents Bothnia Dystrophy Phenotype Caused by Two Allelic Mutations in RLBP 1

O. Sandgren, I. Golovleva, M. Burstedt, 2008 .

Retinal function in Bothnia dystrophy. An electrophysiological study

O. Sandgren, I. Golovleva, L. Wachtmeister, 2003, Vision Research.

Bothnia dystrophy, a clinical, genetical and electrophysiological study

M. Burstedt, Marie S. I. Burstedt, 2003 .

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

L. Österman, O. Sandgren, M. Holmberg, 2018, Acta ophthalmologica.

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

O. Sandgren, I. Golovleva, M. Burstedt, 2008, Advances in experimental medicine and biology.

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

S. Daiger, S. Bowne, L. Sullivan, 2009, European Journal of Human Genetics.

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

O. Sandgren, I. Golovleva, L. Wachtmeister, 2008, Documenta Ophthalmologica.

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

S. Daiger, O. Sandgren, I. Golovleva, 2010, Advances in experimental medicine and biology.

Qualitative Interviews To Inform Development Of A Patient Reported Outcome (PRO) Strategy In RLBP1 Retinitis Pigmentosa (RLBP1 RP)

K. Holopigian, Jane S Green, Anmol Mullins, 2017 .