Lisbeth Birk Møller - Search Results

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Did you mean lisbeth birk moeller (14 results)?

Generation of induced pluripotent stem cells, KCi005-A derived from a female with Parkinsońs disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456.

Jonsgaard Larsen L, Elisabeth Hjermind L, Birk Møller L. Jonsgaard Larsen L, et al. Among authors: birk moller l. Stem Cell Res. 2024 Feb;74:103279. doi: 10.1016/j.scr.2023.103279. Epub 2023 Dec 9. Stem Cell Res. 2024. PMID: 38103334 Free article.

Generation of induced pluripotent stem cells, KCi004-A derived from a male with Parkinson's disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456.

Jonsgaard Larsen L, Birk Møller L. Jonsgaard Larsen L, et al. Among authors: birk moller l. Stem Cell Res. 2023 Sep;71:103175. doi: 10.1016/j.scr.2023.103175. Epub 2023 Jul 26. Stem Cell Res. 2023. PMID: 37524028 Free article.

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort.

Lisbjerg K, Grønskov K, Bertelsen M, Møller LB, Kessel L. Lisbjerg K, et al. Among authors: moller lb. Genes (Basel). 2023 Feb 8;14(2):435. doi: 10.3390/genes14020435. Genes (Basel). 2023. PMID: 36833363 Free PMC article.

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.

Nielsen EN, Ásbjörnsdóttir B, Møller LB, Nielsen JE, Lindquist SG. Nielsen EN, et al. Among authors: moller lb. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006236. doi: 10.1101/mcs.a006236. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307210 Free PMC article.

Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.

Kirk FT, Munk DE, Ek J, Birk Møller L, Bendixen Thorup M, Hvid Danielsen E, Vilstrup H, Ott P, Damgaard Sandahl T. Kirk FT, et al. Among authors: birk moller l. Front Neurol. 2022 Sep 1;13:957794. doi: 10.3389/fneur.2022.957794. eCollection 2022. Front Neurol. 2022. PMID: 36119696 Free PMC article.

Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10).

Ásbjörnsdóttir B, Henriksen OM, Lindquist S, Møller LB, Sidaros A, Nielsen JE. Ásbjörnsdóttir B, et al. Among authors: moller lb. BMJ Case Rep. 2022 Mar 7;15(3):e248228. doi: 10.1136/bcr-2021-248228. BMJ Case Rep. 2022. PMID: 35256372 Free PMC article.

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.

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.

Karlsson WK, Højgaard JLS, Vilhelmsen A, Crone C, Andersen B, Law I, Møller LB, Nielsen TT, Nielsen EN, Krag T, Svenstrup K, Nielsen JE. Karlsson WK, et al. Among authors: moller lb. Cerebellum. 2022 Jun;21(3):514-519. doi: 10.1007/s12311-021-01308-w. Epub 2021 Jul 28. Cerebellum. 2022. PMID: 34318393

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.

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.

Hey CAB, Larsen LJ, Tümer Z, Brøndum-Nielsen K, Grønskov K, Hjortshøj TD, Møller LB. Hey CAB, et al. Among authors: moller lb. Int J Mol Sci. 2021 Jan 29;22(3):1345. doi: 10.3390/ijms22031345. Int J Mol Sci. 2021. PMID: 33572860 Free PMC article.

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