Knappskog PM - Search Results

1

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM. Fiskerstrand T, et al. Among authors: knappskog pm. Am J Hum Genet. 2010 Sep 10;87(3):410-7. doi: 10.1016/j.ajhg.2010.08.002. Am J Hum Genet. 2010. PMID: 20797687 Free PMC article.

2

A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.

Eiken HG, Knappskog PM, Apold J, Skjelkvåle L, Boman H. Eiken HG, et al. Among authors: knappskog pm. Hum Mutat. 1992;1(5):388-91. doi: 10.1002/humu.1380010507. Hum Mutat. 1992. PMID: 1301947

3

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

Eiken HG, Stangeland K, Skjelkvåle L, Knappskog PM, Boman H, Apold J. Eiken HG, et al. Among authors: knappskog pm. Hum Genet. 1992 Mar;88(6):608-12. doi: 10.1007/BF02265283. Hum Genet. 1992. PMID: 1312992

4

The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.

Knappskog PM, Eiken HG, Martinez A, Flatmark T, Apold J. Knappskog PM, et al. Hum Genet. 1995 Feb;95(2):171-3. doi: 10.1007/BF00209396. Hum Genet. 1995. PMID: 7860062

5

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Olsen TC, Eiken HG, Knappskog PM, Kase BF, Månsson JE, Boman H, Apold J. Olsen TC, et al. Among authors: knappskog pm. Hum Genet. 1996 Feb;97(2):198-203. doi: 10.1007/BF02265265. Hum Genet. 1996. PMID: 8566953

6

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

Eiken HG, Knappskog PM, Motzfeldt K, Boman H, Apold J. Eiken HG, et al. Among authors: knappskog pm. Eur J Pediatr. 1996 Jul;155(7):554-60. doi: 10.1007/BF01957904. Eur J Pediatr. 1996. PMID: 8831077

7

Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.

Eiken HG, Knappskog PM, Boman H, Thune KS, Kaada G, Motzfeldt K, Apold J. Eiken HG, et al. Among authors: knappskog pm. Eur J Hum Genet. 1996;4(4):205-13. doi: 10.1159/000472200. Eur J Hum Genet. 1996. PMID: 8875186

8

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard.

Bruland O, Almqvist EW, Goldberg YP, Boman H, Hayden MR, Knappskog PM. Bruland O, et al. Among authors: knappskog pm. Clin Genet. 1999 Mar;55(3):198-202. doi: 10.1034/j.1399-0004.1999.550308.x. Clin Genet. 1999. PMID: 10334474

9

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.

Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H. Knappskog PM, et al. Am J Hum Genet. 2003 Feb;72(2):375-83. doi: 10.1086/346120. Epub 2002 Dec 31. Am J Hum Genet. 2003. PMID: 12509788 Free PMC article.

10

Pyridoxal phosphatase is a novel cancer autoantigen in the central nervous system.

Bøe AS, Bredholt G, Knappskog PM, Storstein A, Vedeler CA, Husebye ES. Bøe AS, et al. Among authors: knappskog pm. Br J Cancer. 2004 Oct 18;91(8):1508-14. doi: 10.1038/sj.bjc.6602142. Br J Cancer. 2004. PMID: 15452547 Free PMC article.

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