Sztromwasser P - Search Results

1

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.

Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grützmann R, Mayerle J, Mössner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Férec C, Witt H, Lerch MM, Njølstad PR, Johansson S, Molven A. Fjeld K, et al. Among authors: sztromwasser p. Nat Genet. 2015 May;47(5):518-522. doi: 10.1038/ng.3249. Epub 2015 Mar 16. Nat Genet. 2015. PMID: 25774637 Free PMC article.

2

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.

Johansson BB, Irgens HU, Molnes J, Sztromwasser P, Aukrust I, Juliusson PB, Søvik O, Levy S, Skrivarhaug T, Joner G, Molven A, Johansson S, Njølstad PR. Johansson BB, et al. Among authors: sztromwasser p. Diabetologia. 2017 Apr;60(4):625-635. doi: 10.1007/s00125-016-4167-1. Epub 2016 Dec 2. Diabetologia. 2017. PMID: 27913849

3

Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

Gaare JJ, Nido GS, Sztromwasser P, Knappskog PM, Dahl O, Lund-Johansen M, Maple-Grødem J, Alves G, Tysnes OB, Johansson S, Haugarvoll K, Tzoulis C. Gaare JJ, et al. Among authors: sztromwasser p. Mov Disord. 2018 Oct;33(10):1591-1600. doi: 10.1002/mds.64. Epub 2018 Sep 5. Mov Disord. 2018. PMID: 30256453 Free PMC article.

4

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

Tzoulis C, Sztromwasser P, Johansson S, Gjerde IO, Knappskog P, Bindoff LA. Tzoulis C, et al. Among authors: sztromwasser p. Cerebellum. 2017 Feb;16(1):272-275. doi: 10.1007/s12311-016-0784-y. Cerebellum. 2017. PMID: 27165045 Free PMC article.

5

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

Flønes I, Sztromwasser P, Haugarvoll K, Dölle C, Lykouri M, Schwarzlmüller T, Jonassen I, Miletic H, Johansson S, Knappskog PM, Bindoff LA, Tzoulis C. Flønes I, et al. Among authors: sztromwasser p. PLoS One. 2016 Feb 10;11(2):e0149055. doi: 10.1371/journal.pone.0149055. eCollection 2016. PLoS One. 2016. PMID: 26863430 Free PMC article.

6

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. Brunetti D, et al. Among authors: sztromwasser p. EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894. EMBO Mol Med. 2016. PMID: 26697887 Free PMC article.

7

High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).

Bredrup C, Johansson S, Bindoff LA, Sztromwasser P, Kråkenes J, Mellgren AE, Brurås KR, Lind O, Boman H, Knappskog PM, Rødahl E. Bredrup C, et al. Among authors: sztromwasser p. Am J Ophthalmol. 2015 May;159(5):973-9.e2. doi: 10.1016/j.ajo.2015.01.021. Epub 2015 Jan 26. Am J Ophthalmol. 2015. PMID: 25634536

8

No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease.

Gaare JJ, Nido GS, Sztromwasser P, Knappskog PM, Dahl O, Lund-Johansen M, Alves G, Tysnes OB, Johansson S, Haugarvoll K, Tzoulis C. Gaare JJ, et al. Among authors: sztromwasser p. Brain. 2018 Mar 1;141(3):e16. doi: 10.1093/brain/awx378. Brain. 2018. PMID: 29373637 Free PMC article. No abstract available.

9

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Hikmat O, Tzoulis C, Knappskog PM, Johansson S, Boman H, Sztromwasser P, Lien E, Brodtkorb E, Ghezzi D, Bindoff LA. Hikmat O, et al. Among authors: sztromwasser p. Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. Epub 2016 Apr 23. Eur J Neurol. 2016. PMID: 27106809

10

Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci.

Gaare JJ, Nido G, Dölle C, Sztromwasser P, Alves G, Tysnes OB, Haugarvoll K, Tzoulis C. Gaare JJ, et al. Among authors: sztromwasser p. PLoS One. 2020 Oct 1;15(10):e0239824. doi: 10.1371/journal.pone.0239824. eCollection 2020. PLoS One. 2020. PMID: 33002040 Free PMC article.

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