Knappskog PM - Search Results

1

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

Stige KE, Gjerde IO, Houge G, Knappskog PM, Tzoulis C. Stige KE, et al. Among authors: knappskog pm. Clin Case Rep. 2018 Jan 4;6(2):353-362. doi: 10.1002/ccr3.1358. eCollection 2018 Feb. Clin Case Rep. 2018. PMID: 29445477 Free PMC article.

2

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

Fiskerstrand T, Houge G, Sund S, Scheie D, Leh S, Boman H, Knappskog PM. Fiskerstrand T, et al. Among authors: knappskog pm. J Mol Diagn. 2010 Jan;12(1):125-31. doi: 10.2353/jmoldx.2010.090033. Epub 2009 Dec 10. J Mol Diagn. 2010. PMID: 20007846 Free PMC article.

3

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Haugarvoll K, Johansson S, Tzoulis C, Haukanes BI, Bredrup C, Neckelmann G, Boman H, Knappskog PM, Bindoff LA. Haugarvoll K, et al. Among authors: knappskog pm. Orphanet J Rare Dis. 2013 Jan 3;8:1. doi: 10.1186/1750-1172-8-1. Orphanet J Rare Dis. 2013. PMID: 23286897 Free PMC article.

4

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Tzoulis C, Johansson S, Haukanes BI, Boman H, Knappskog PM, Bindoff LA. Tzoulis C, et al. Among authors: knappskog pm. PLoS One. 2013 Jun 13;8(6):e66145. doi: 10.1371/journal.pone.0066145. Print 2013. PLoS One. 2013. PMID: 23785480 Free PMC article.

5

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Haugarvoll K, Tzoulis C, Tran GT, Karlsen B, Engelsen BA, Knappskog PM, Bindoff LA. Haugarvoll K, et al. Among authors: knappskog pm. J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3. J Neurol. 2014. PMID: 24297365

6

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Rainger J, et al. Among authors: knappskog pm. Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005. Am J Hum Genet. 2014. PMID: 24906020 Free PMC article.

7

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.

Tzoulis C, Zayats T, Knappskog PM, Müller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K. Tzoulis C, et al. Among authors: knappskog pm. Proc Natl Acad Sci U S A. 2015 May 5;112(18):E2268. doi: 10.1073/pnas.1503105112. Epub 2015 Mar 30. Proc Natl Acad Sci U S A. 2015. PMID: 25825781 Free PMC article. No abstract available.

8

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: knappskog pm. PLoS One. 2016 Feb 10;11(2):e0149055. doi: 10.1371/journal.pone.0149055. eCollection 2016. PLoS One. 2016. PMID: 26863430 Free PMC article.

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: knappskog pm. 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

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. Cerebellum. 2017 Feb;16(1):272-275. doi: 10.1007/s12311-016-0784-y. Cerebellum. 2017. PMID: 27165045 Free PMC article.

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