Burstedt M - Search Results

1

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

Kvanta A, Rangaswamy N, Holopigian K, Watters C, Jennings N, Liew MSH, Bigelow C, Grosskreutz C, Burstedt M, Venkataraman A, Westman S, Geirsdottir A, Stasi K, André H. Kvanta A, et al. Among authors: burstedt m. Nat Commun. 2024 Sep 10;15(1):7438. doi: 10.1038/s41467-024-51575-4. Nat Commun. 2024. PMID: 39256350 Free PMC article. Clinical Trial.

2

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

Burstedt M, Whelan JH, Green JS, Holopigian K, Spera C, Greco E, Deslandes JY, Wald M, Grosskreutz C, Ni X, Normand G, Maker M, Charil A, Rosol M, He Y, Stasi K. Burstedt M, et al. Invest Ophthalmol Vis Sci. 2023 Oct 3;64(13):42. doi: 10.1167/iovs.64.13.42. Invest Ophthalmol Vis Sci. 2023. PMID: 37883093 Free PMC article.

3

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

Green J, Tolley C, Bentley S, Arbuckle R, Burstedt M, Whelan J, Holopigian K, Stasi K, Sloesen B, Spera C, Deslandes JY, Mullins A. Green J, et al. Among authors: burstedt m. Adv Ther. 2020 Jun;37(6):2884-2901. doi: 10.1007/s12325-020-01275-4. Epub 2020 May 5. Adv Ther. 2020. PMID: 32372289 Free PMC article.

4

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

Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I. Burstedt M, et al. Acta Ophthalmol. 2013 Aug;91(5):437-44. doi: 10.1111/j.1755-3768.2012.02431.x. Epub 2012 May 2. Acta Ophthalmol. 2013. PMID: 22551409 Free article.

5

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

Burstedt MS, Golovleva I. Burstedt MS, et al. Arch Ophthalmol. 2010 Aug;128(8):989-95. doi: 10.1001/archophthalmol.2010.167. Arch Ophthalmol. 2010. PMID: 20696998

6

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

Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O. Burstedt MS, et al. Arch Ophthalmol. 2001 Feb;119(2):260-7. Arch Ophthalmol. 2001. PMID: 11176989

7

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

Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K. Burstedt MS, et al. Invest Ophthalmol Vis Sci. 1999 Apr;40(5):995-1000. Invest Ophthalmol Vis Sci. 1999. PMID: 10102298

8

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

Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I. Köhn L, et al. Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3172-7. doi: 10.1167/iovs.07-1664. Epub 2008 Mar 14. Invest Ophthalmol Vis Sci. 2008. PMID: 18344446

9

Retinal function in Bothnia dystrophy. An electrophysiological study.

Burstedt MS, Sandgren O, Golovleva I, Wachtmeister L. Burstedt MS, et al. Vision Res. 2003 Nov;43(24):2559-71. doi: 10.1016/s0042-6989(03)00440-1. Vision Res. 2003. PMID: 13129542 Free article.

10

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

Burstedt MS, Sandgren O, Golovleva I, Wachtmeister L. Burstedt MS, et al. Doc Ophthalmol. 2008 May;116(3):193-205. doi: 10.1007/s10633-007-9082-9. Epub 2007 Oct 6. Doc Ophthalmol. 2008. PMID: 17922155

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