Knappskog PM - Search Results

1

Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis.

Torkildsen Ø, Knappskog PM, Nyland HI, Myhr KM. Torkildsen Ø, et al. Among authors: knappskog pm. Arch Neurol. 2008 Jun;65(6):809-11. doi: 10.1001/archneur.65.6.809. Arch Neurol. 2008. PMID: 18541802

2

Vitamin D-dependent rickets, HLA-DRB1, and the risk of multiple sclerosis.

Ramagopalan SV, Hanwell HE, Giovannoni G, Knappskog PM, Nyland HI, Myhr KM, Ebers GC, Torkildsen O. Ramagopalan SV, et al. Among authors: knappskog pm. Arch Neurol. 2010 Aug;67(8):1034-5. doi: 10.1001/archneurol.2010.182. Arch Neurol. 2010. PMID: 20697062 No abstract available.

3

A novel Refsum-like disorder that maps to chromosome 20.

Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. Fiskerstrand T, et al. Neurology. 2009 Jan 6;72(1):20-7. doi: 10.1212/01.wnl.0000333664.90605.23. Epub 2008 Nov 12. Neurology. 2009. PMID: 19005174

4

Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production.

Halmøy A, Johansson S, Winge I, McKinney JA, Knappskog PM, Haavik J. Halmøy A, et al. Among authors: knappskog pm. Arch Gen Psychiatry. 2010 Oct;67(10):1033-43. doi: 10.1001/archgenpsychiatry.2010.124. Arch Gen Psychiatry. 2010. PMID: 20921119

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

Clinical manifestation of a novel PAX6 mutation Arg128Pro.

Bredrup C, Knappskog PM, Rødahl E, Boman H. Bredrup C, et al. Among authors: knappskog pm. Arch Ophthalmol. 2008 Mar;126(3):428-30. doi: 10.1001/archopht.126.3.428. Arch Ophthalmol. 2008. PMID: 18332330 No abstract available.

7

Exome sequencing and genetic testing for MODY.

Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njølstad PR. Johansson S, et al. Among authors: knappskog pm. PLoS One. 2012;7(5):e38050. doi: 10.1371/journal.pone.0038050. Epub 2012 May 25. PLoS One. 2012. PMID: 22662265 Free PMC article.

8

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.

Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Rafaelsen SH, et al. J Bone Miner Res. 2013 Jun;28(6):1378-85. doi: 10.1002/jbmr.1850. J Bone Miner Res. 2013. PMID: 23325605 Free article. Clinical Trial.

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

Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.

Wolff AS, Erichsen MM, Meager A, Magitta NF, Myhre AG, Bollerslev J, Fougner KJ, Lima K, Knappskog PM, Husebye ES. Wolff AS, et al. Among authors: knappskog pm. J Clin Endocrinol Metab. 2007 Feb;92(2):595-603. doi: 10.1210/jc.2006-1873. Epub 2006 Nov 21. J Clin Endocrinol Metab. 2007. PMID: 17118990

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