Burstedt M - Search Results

1

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

Whelan J, Green J, Burstedt M, Greco E, Ni X, Spera C, Mullins A, Deslandes JY, Su Z, Wald M, Grosskreutz CL, Normand G, Charil A, Lu D, Stasi K, Holopigian K. Whelan J, et al. Among authors: burstedt m. Transl Vis Sci Technol. 2024 Nov 4;13(11):16. doi: 10.1167/tvst.13.11.16. Transl Vis Sci Technol. 2024. PMID: 39541109

2

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A. Eisfeldt J, et al. Among authors: burstedt m. Genome Res. 2024 Oct 29. doi: 10.1101/gr.279510.124. Online ahead of print. Genome Res. 2024. PMID: 39472022 Free article.

3

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.

4

Acral Peeling Skin Syndrome: Two Unusual Cases and the Therapeutic Potential of Botulinum Toxin.

Stjernbrandt AL, Burstedt M, Holmbom E, Shayesteh A. Stjernbrandt AL, et al. Among authors: burstedt m. Acta Derm Venereol. 2024 Apr 9;104:adv24305. doi: 10.2340/actadv.v104.24305. Acta Derm Venereol. 2024. PMID: 38590258 Free PMC article. No abstract available.

5

Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion.

Lundberg E, Burstedt M, Golovleva I. Lundberg E, et al. Among authors: burstedt m. J Clin Res Pediatr Endocrinol. 2024 Feb 12. doi: 10.4274/jcrpe.galenos.2024.2023-5-15. Online ahead of print. J Clin Res Pediatr Endocrinol. 2024. PMID: 38344969 Free article.

6

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.

7

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

Westin IM, Jonsson F, Österman L, Holmberg M, Burstedt M, Golovleva I. Westin IM, et al. Among authors: burstedt m. Sci Rep. 2021 Apr 8;11(1):7696. doi: 10.1038/s41598-021-87224-9. Sci Rep. 2021. PMID: 33833316 Free PMC article.

8

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.

9

Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.

Gkourogianni A, Andrade AC, Jonsson BA, Segerlund E, Werner-Sperker A, Horemuzova E, Dahlgren J, Burstedt M, Nilsson O. Gkourogianni A, et al. Among authors: burstedt m. Acta Paediatr. 2020 Oct;109(10):2067-2074. doi: 10.1111/apa.15218. Epub 2020 Mar 6. Acta Paediatr. 2020. PMID: 32037650

10

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

Jonsson F, Burstedt M, Kellgren TG, Golovleva I. Jonsson F, et al. Among authors: burstedt m. Mol Vis. 2018 Oct 18;24:667-678. eCollection 2018. Mol Vis. 2018. PMID: 30416333 Free PMC article.

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