Møller LB - Search Results

1

The quaternary structure of human tyrosine hydroxylase: effects of dystonia-associated missense variants on oligomeric state and enzyme activity.

Szigetvari PD, Muruganandam G, Kallio JP, Hallin EI, Fossbakk A, Loris R, Kursula I, Møller LB, Knappskog PM, Kursula P, Haavik J. Szigetvari PD, et al. Among authors: moller lb. J Neurochem. 2019 Jan;148(2):291-306. doi: 10.1111/jnc.14624. Epub 2018 Dec 9. J Neurochem. 2019. PMID: 30411798 Free PMC article.

2

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.

Møller LB, Romstad A, Paulsen M, Hougaard P, Ormazabal A, Pineda M, Blau N, Güttler F, Artuch R. Møller LB, et al. Prenat Diagn. 2005 Aug;25(8):671-5. doi: 10.1002/pd.1193. Prenat Diagn. 2005. PMID: 16049992

3

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.

Hertz JM, Ostergaard K, Juncker I, Pedersen S, Romstad A, Møller LB, Güttler F, Dupont E. Hertz JM, et al. Among authors: moller lb. Eur J Neurol. 2006 Apr;13(4):385-90. doi: 10.1111/j.1468-1331.2006.01249.x. Eur J Neurol. 2006. PMID: 16643317

4

Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.

Nasser A, Møller AT, Hellmund V, Thorborg SS, Jespersgaard C, Bjerrum OJ, Dupont E, Nachman G, Lykkesfeldt J, Jensen TS, Møller LB. Nasser A, et al. Among authors: moller at, moller lb. Pain. 2018 Jun;159(6):1012-1024. doi: 10.1097/j.pain.0000000000001175. Pain. 2018. PMID: 29470312

5

GCH1 variants, tetrahydrobiopterin and their effects on pain sensitivity.

Nasser A, Møller LB. Nasser A, et al. Among authors: moller lb. Scand J Pain. 2014 Apr 1;5(2):121-128. doi: 10.1016/j.sjpain.2013.12.001. Scand J Pain. 2014. PMID: 29913682 Free article. Review.

6

Impaired behavioural pain responses in hph-1 mice with inherited deficiency in GTP cyclohydrolase 1 in models of inflammatory pain.

Nasser A, Bjerrum OJ, Heegaard AM, Møller AT, Larsen M, Dalbøge LS, Dupont E, Jensen TS, Møller LB. Nasser A, et al. Among authors: moller at, moller lb. Mol Pain. 2013 Feb 19;9:5. doi: 10.1186/1744-8069-9-5. Mol Pain. 2013. PMID: 23421753 Free PMC article.

7

Crosstalk between BH4, pain, and dystonia.

Møller LB. Møller LB. Eur J Hum Genet. 2021 Dec;29(12):1727-1728. doi: 10.1038/s41431-021-00953-3. Epub 2021 Sep 21. Eur J Hum Genet. 2021. PMID: 34545211 Free PMC article. No abstract available.

8

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.

Møller LB, Mogensen M, Weaver DD, Pedersen PA. Møller LB, et al. Front Mol Neurosci. 2021 Apr 21;14:532291. doi: 10.3389/fnmol.2021.532291. eCollection 2021. Front Mol Neurosci. 2021. PMID: 33967692 Free PMC article.

9

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: moller lb. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265

10

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Jespersgaard C, Bertelsen M, Arif F, Gellert-Kristensen HG, Fang M, Jensen H, Rosenberg T, Tümer Z, Møller LB, Brøndum-Nielsen K, Grønskov K. Jespersgaard C, et al. Among authors: moller lb. Genes (Basel). 2020 Dec 18;11(12):1517. doi: 10.3390/genes11121517. Genes (Basel). 2020. PMID: 33353011 Free PMC article.

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