Møller LB - Search Results

1

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Hansen FH, Skjørringe T, Yasmeen S, Arends NV, Sahai MA, Erreger K, Andreassen TF, Holy M, Hamilton PJ, Neergheen V, Karlsborg M, Newman AH, Pope S, Heales SJ, Friberg L, Law I, Pinborg LH, Sitte HH, Loland C, Shi L, Weinstein H, Galli A, Hjermind LE, Møller LB, Gether U. Hansen FH, et al. Among authors: moller lb. J Clin Invest. 2014 Jul;124(7):3107-20. doi: 10.1172/JCI73778. Epub 2014 Jun 9. J Clin Invest. 2014. PMID: 24911152 Free PMC article.

2

Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease.

Herborg F, Jensen KL, Tolstoy S, Arends NV, Posselt LP, Shekar A, Aguilar JI, Lund VK, Erreger K, Rickhag M, Lycas MD, Lonsdale MN, Rahbek-Clemmensen T, Sørensen AT, Newman AH, Løkkegaard A, Kjærulff O, Werge T; iPSYCH researchers; Møller LB, Matthies HJ, Galli A, Hjermind LE, Gether U. Herborg F, et al. Among authors: moller lb. JCI Insight. 2021 Sep 22;6(18):e151496. doi: 10.1172/jci.insight.151496. JCI Insight. 2021. PMID: 34375312 Free PMC article.

3

Splice site mutations in the ATP7A gene.

Skjørringe T, Tümer Z, Møller LB. Skjørringe T, et al. Among authors: moller lb. PLoS One. 2011 Apr 11;6(4):e18599. doi: 10.1371/journal.pone.0018599. PLoS One. 2011. PMID: 21494555 Free PMC article.

4

Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders.

Skjørringe T, Møller LB, Moos T. Skjørringe T, et al. Among authors: moller lb. Front Pharmacol. 2012 Sep 25;3:169. doi: 10.3389/fphar.2012.00169. eCollection 2012. Front Pharmacol. 2012. PMID: 23055972 Free PMC article.

5

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.

Møller LB, Rea G, Yasmeen S, Skjørringe T, Thorborg SS, Morrison PJ, Donnelly DE. Møller LB, et al. Mol Genet Metab. 2013 Dec;110(4):490-2. doi: 10.1016/j.ymgme.2013.09.012. Epub 2013 Sep 24. Mol Genet Metab. 2013. PMID: 24100245

6

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.

Lindquist SG, Møller LB, Dali CI, Marner L, Kamsteeg EJ, Nielsen JE, Hjermind LE. Lindquist SG, et al. Among authors: moller lb. Cerebellum. 2017 Feb;16(1):268-271. doi: 10.1007/s12311-016-0786-9. Cerebellum. 2017. PMID: 27165044

7

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.

Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB. Yasmeen S, et al. Among authors: moller lb. Eur J Hum Genet. 2014 Apr;22(4):517-21. doi: 10.1038/ejhg.2013.191. Epub 2013 Sep 4. Eur J Hum Genet. 2014. PMID: 24002164 Free PMC article.

8

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Bayat A, Yasmeen S, Lund A, Nielsen JB, Møller LB. Bayat A, et al. Among authors: moller lb. Clin Genet. 2016 Sep;90(3):247-51. doi: 10.1111/cge.12692. Epub 2015 Dec 12. Clin Genet. 2016. PMID: 26542770

9

Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.

Mogensen M, Skjørringe T, Kodama H, Silver K, Horn N, Møller LB. Mogensen M, et al. Among authors: moller lb. Orphanet J Rare Dis. 2011 Nov 10;6:73. doi: 10.1186/1750-1172-6-73. Orphanet J Rare Dis. 2011. PMID: 22074552 Free PMC article.

10

Crystal structure of a copper-transporting PIB-type ATPase.

Gourdon P, Liu XY, Skjørringe T, Morth JP, Møller LB, Pedersen BP, Nissen P. Gourdon P, et al. Among authors: moller lb. Nature. 2011 Jun 29;475(7354):59-64. doi: 10.1038/nature10191. Nature. 2011. PMID: 21716286

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

121 results

Search Page