Kjellström U - Search Results

1

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56.

Almasoudi W, Nilsson C, Kjellström U, Sandeman K, Puschmann A. Almasoudi W, et al. Among authors: kjellstrom u. Clin Park Relat Disord. 2023 Feb 22;8:100189. doi: 10.1016/j.prdoa.2023.100189. eCollection 2023. Clin Park Relat Disord. 2023. PMID: 36879630 Free PMC article.

2

In vivo measurements of relative motion between an uncemented femoral total hip component and the femur by roentgen stereophotogrammetric analysis.

Nistor L, Blaha JD, Kjellström U, Selvik G. Nistor L, et al. Among authors: kjellstrom u. Clin Orthop Relat Res. 1991 Aug;(269):220-7. Clin Orthop Relat Res. 1991. PMID: 1864042

3

Oncocytic tumor of the pancreas. Report of a case with aspiration cytology.

Bondeson L, Bondeson AG, Grimelius L, Kjellström U. Bondeson L, et al. Among authors: kjellstrom u. Acta Cytol. 1990 May-Jun;34(3):425-8. Acta Cytol. 1990. PMID: 2343702

4

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: kjellstrom u. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.

5

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: kjellstrom u. 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.

6

A novel phenotype associated with the R162W variant in the KCNJ13 gene.

Schroeder M, Peter VG, Gränse L, Andréasson S, Rivolta C, Kjellström U. Schroeder M, et al. Among authors: kjellstrom u. Ophthalmic Genet. 2022 Aug;43(4):500-507. doi: 10.1080/13816810.2022.2068041. Epub 2022 Apr 27. Ophthalmic Genet. 2022. PMID: 35477418

7

A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes.

Kjellström U, Andréasson S. Kjellström U, et al. Mol Vis. 2022 Oct 1;28:300-316. eCollection 2022. Mol Vis. 2022. PMID: 36338671 Free PMC article.

8

Association between genotype and phenotype in families with mutations in the ABCA4 gene.

Kjellström U. Kjellström U. Mol Vis. 2014 Jan 7;20:89-104. eCollection 2014. Mol Vis. 2014. PMID: 24453473 Free PMC article.

9

Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.

Kjellström U, Veiga-Crespo P, Andréasson S, Ekström P. Kjellström U, et al. Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6048-6057. doi: 10.1167/iovs.16-19861. Invest Ophthalmol Vis Sci. 2016. PMID: 27820873

10

Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.

Kjellström U, Martell S, Brobeck C, Andréasson S. Kjellström U, et al. Ophthalmic Genet. 2021 Apr;42(2):161-169. doi: 10.1080/13816810.2020.1861309. Epub 2020 Dec 27. Ophthalmic Genet. 2021. PMID: 33356723

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