Aasly J - Search Results

1

Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.

Svaasand EK, Aasly J, Landsem VM, Klungland H. Svaasand EK, et al. Among authors: aasly j. Muscle Nerve. 2007 Nov;36(5):679-84. doi: 10.1002/mus.20859. Muscle Nerve. 2007. PMID: 17661373

2

Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms.

Aasly J, van Diggelen OP, Boer AM, Brønstad G. Aasly J, et al. Eur J Neurol. 2000 Jan;7(1):111-3. doi: 10.1046/j.1468-1331.2000.00012.x. Eur J Neurol. 2000. PMID: 10809925

3

Genetic association study of synphilin-1 in idiopathic Parkinson's disease.

Myhre R, Klungland H, Farrer MJ, Aasly JO. Myhre R, et al. Among authors: aasly jo. BMC Med Genet. 2008 Mar 21;9:19. doi: 10.1186/1471-2350-9-19. BMC Med Genet. 2008. PMID: 18366718 Free PMC article.

4

Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population.

Myhre R, Toft M, Kachergus J, Hulihan MM, Aasly JO, Klungland H, Farrer MJ. Myhre R, et al. Among authors: aasly jo. Acta Neurol Scand. 2008 Nov;118(5):320-7. doi: 10.1111/j.1600-0404.2008.01019.x. Epub 2008 May 15. Acta Neurol Scand. 2008. PMID: 18485051

5

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.

Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG. Vissing J, et al. Among authors: aasly j. Neurology. 2018 Sep 11;91(11):e1077-e1082. doi: 10.1212/WNL.0000000000006165. Epub 2018 Aug 15. Neurology. 2018. PMID: 30111548

6

Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.

Gustavsson EK, Follett J, Farrer MJ, Aasly JO. Gustavsson EK, et al. Among authors: aasly jo. Muscle Nerve. 2019 Sep;60(3):311-314. doi: 10.1002/mus.26622. Epub 2019 Jul 7. Muscle Nerve. 2019. PMID: 31241196

7

PINK1 mutation heterozygosity and the risk of Parkinson's disease.

Toft M, Myhre R, Pielsticker L, White LR, Aasly JO, Farrer MJ. Toft M, et al. Among authors: aasly jo. J Neurol Neurosurg Psychiatry. 2007 Jan;78(1):82-4. doi: 10.1136/jnnp.2006.097840. J Neurol Neurosurg Psychiatry. 2007. PMID: 17172567 Free PMC article.

8

Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway.

Haugarvoll K, Toft M, Ross OA, White LR, Aasly JO, Farrer MJ. Haugarvoll K, et al. Among authors: aasly jo. Neurosci Lett. 2007 Apr 18;416(3):299-301. doi: 10.1016/j.neulet.2007.02.020. Epub 2007 Feb 12. Neurosci Lett. 2007. PMID: 17324517

9

Metabolomic profiling in LRRK2-related Parkinson's disease.

Johansen KK, Wang L, Aasly JO, White LR, Matson WR, Henchcliffe C, Beal MF, Bogdanov M. Johansen KK, et al. PLoS One. 2009 Oct 22;4(10):e7551. doi: 10.1371/journal.pone.0007551. PLoS One. 2009. PMID: 19847307 Free PMC article.

10

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP. Dobson-Stone C, et al. Among authors: aasly jo. Eur J Hum Genet. 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. Eur J Hum Genet. 2002. PMID: 12404112

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