Andréasson S - Search Results

1

Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?

Kafantari E, Andréasson S, Säll T, Puschmann A. Kafantari E, et al. Among authors: andreasson s. Parkinsonism Relat Disord. 2020 Oct;79:138-140. doi: 10.1016/j.parkreldis.2020.10.021. Epub 2020 Oct 12. Parkinsonism Relat Disord. 2020. PMID: 33069610 No abstract available.

2

Ataxia-pancytopenia syndrome with SAMD9L mutations.

Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A. Gorcenco S, et al. Among authors: andreasson s. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.

3

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Gorcenco S, Vaz FM, Tracewska-Siemiatkowska A, Tranebjærg L, Cremers FPM, Ygland E, Kicsi J, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Puschmann A. Gorcenco S, et al. Among authors: andreasson s. Parkinsonism Relat Disord. 2019 Apr;61:245-247. doi: 10.1016/j.parkreldis.2018.10.017. Epub 2018 Oct 15. Parkinsonism Relat Disord. 2019. PMID: 30343981 No abstract available.

4

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.

Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A. Andréasson S, et al. Ophthalmic Genet. 2003 Dec;24(4):215-23. doi: 10.1076/opge.24.4.215.17228. Ophthalmic Genet. 2003. PMID: 14566651

5

Developments in molecular genetics and electrophysiology in inherited retinal disorders.

Andréasson S. Andréasson S. Acta Ophthalmol Scand. 2006 Apr;84(2):161-8. doi: 10.1111/j.1600-0420.2006.00657.x. Acta Ophthalmol Scand. 2006. PMID: 16637830 Free article. Review.

6

Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.

Bauer S, Fujita R, Buraczynska M, Abrahamson M, Ehinger B, Wu W, Falls TJ, Andréasson S, Swaroop A. Bauer S, et al. Among authors: andreasson s. Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2470-4. Invest Ophthalmol Vis Sci. 1998. PMID: 9804156

7

Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome.

Ponjavic V, Andreasson S, Tranebjaerg L, Lubs HA. Ponjavic V, et al. Among authors: andreasson s. Acta Ophthalmol Scand. 1996 Dec;74(6):632-5. doi: 10.1111/j.1600-0420.1996.tb00751.x. Acta Ophthalmol Scand. 1996. PMID: 9017058

8

Retinal function in rabbits does not improve 4-5 months after terminating treatment with vigabatrin.

Kjellström U, Kjellström S, Bruun A, Andréasson S, Ponjavic V. Kjellström U, et al. Among authors: andreasson s. Doc Ophthalmol. 2006 Jan;112(1):35-41. doi: 10.1007/s10633-006-0004-z. Doc Ophthalmol. 2006. PMID: 16633724

9

Full-field ERG and visual fields in patients 5 years after discontinuing vigabatrin therapy.

Kjellström U, Lövestam-Adrian M, Andréasson S, Ponjavic V. Kjellström U, et al. Among authors: andreasson s. Doc Ophthalmol. 2008 Sep;117(2):93-101. doi: 10.1007/s10633-007-9108-3. Epub 2008 Jan 10. Doc Ophthalmol. 2008. PMID: 18188629

10

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.

Malm E, Ponjavic V, Nishina PM, Naggert JK, Hinman EG, Andréasson S, Marshall JD, Möller C. Malm E, et al. Among authors: andreasson s. Arch Ophthalmol. 2008 Jan;126(1):51-7. doi: 10.1001/archophthalmol.2007.28. Arch Ophthalmol. 2008. PMID: 18195218

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