Boman H - Search Results

1

Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.

Lozic B, Johansson S, Lovric Kojundzic S, Markic J, Knappskog PM, Hahn AF, Boman H. Lozic B, et al. Among authors: boman h. Ann Clin Transl Neurol. 2016 Oct 11;3(11):876-883. doi: 10.1002/acn3.362. eCollection 2016 Nov. Ann Clin Transl Neurol. 2016. PMID: 27844033 Free PMC article.

2

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.

Melone MA, Pellegrino MJ, Nolano M, Habecker BA, Johansson S, Nathanson NM, Knappskog PM, Hahn AF, Boman H. Melone MA, et al. Among authors: boman h. Ann Clin Transl Neurol. 2014 Nov;1(11):926-32. doi: 10.1002/acn3.126. Epub 2014 Oct 24. Ann Clin Transl Neurol. 2014. PMID: 25540807 Free PMC article.

3

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: boman h. PLoS One. 2013 Jun 13;8(6):e66145. doi: 10.1371/journal.pone.0066145. Print 2013. PLoS One. 2013. PMID: 23785480 Free PMC article.

4

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. Among authors: boman h. Neurology. 2009 Jan 6;72(1):20-7. doi: 10.1212/01.wnl.0000333664.90605.23. Epub 2008 Nov 12. Neurology. 2009. PMID: 19005174

5

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: boman h. Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. Epub 2016 Apr 23. Eur J Neurol. 2016. PMID: 27106809

6

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: boman h. 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.

7

Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.

Hahn AF, Jones DL, Knappskog PM, Boman H, McLeod JG. Hahn AF, et al. Among authors: boman h. J Neurol Sci. 2006 Dec 1;250(1-2):62-70. doi: 10.1016/j.jns.2006.07.001. Epub 2006 Sep 6. J Neurol Sci. 2006. PMID: 16952376

8

Clinical manifestation of a novel PAX6 mutation Arg128Pro.

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

9

A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.

Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E. Christensen AE, et al. Among authors: boman h. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6369-73. doi: 10.1167/iovs.10-5597. Epub 2010 Aug 11. Invest Ophthalmol Vis Sci. 2010. PMID: 20702823

10

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Håvik B, Tønder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM. Fiskerstrand T, et al. Among authors: boman h. N Engl J Med. 2012 Apr 26;366(17):1586-95. doi: 10.1056/NEJMoa1110132. Epub 2012 Mar 21. N Engl J Med. 2012. PMID: 22436048 Free article.

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