Works by Møller, Lisbeth Birk

Results: 36

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

Published in:

2010

By:

Reardon, William;
Donoghue, Veronica;
Murphy, Anne-Marie;
King, Mary D.;
Mayne, Philip D.;
Horn, Nina;
Møller, Lisbeth Birk;
Birk Møller, Lisbeth

Publication type:

journal article

Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria.

Published in:

2005

By:

Kalkanoǧlu, H. Serap;
Ahring, Kirsten K.;
Sertkaya, Durdu;
Møller, Lisbeth Birk;
Romstad, Anne;
Mikkelsen, Ingrid;
Guldberg, Per;
Lou, Hans C.;
Güttler, Flemming;
Kalkanoğlu, H Serap;
Møller, Lisbeth Birk;
Güttler, Flemming

Publication type:

journal article

Copper-transporting P-type ATPases use a unique ion-release pathway.

Published in:

Nature Structural & Molecular Biology, 2014, v. 21, n. 1, p. 43, doi. 10.1038/nsmb.2721

By:

Andersson, Magnus;
Mattle, Daniel;
Sitsel, Oleg;
Klymchuk, Tetyana;
Nielsen, Anna Marie;
Møller, Lisbeth Birk;
White, Stephen H;
Nissen, Poul;
Gourdon, Pontus

Publication type:

Article

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Published in:

Human Mutation, 2012, v. 33, n. 8, p. 1207, doi. 10.1002/humu.22099

By:

Huppke, Peter;
Brendel, Cornelia;
Korenke, Georg Christoph;
Marquardt, Iris;
Donsante, Anthony;
Yi, Ling;
Hicks, Julia D.;
Steinbach, Peter J.;
Wilson, Callum;
Elpeleg, Orly;
Møller, Lisbeth Birk;
Christodoulou, John;
Kaler, Stephen G.;
Gärtner, Jutta

Publication type:

Article

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9481

By:

Birk Møller, Lisbeth;
Nygren, Anders O.H.;
Scott, Patrick;
Hougaard, Pia;
Bieber Nielsen, Jytte;
Hartmann, Caroline;
Güttler, Flemming;
Tyfield, Linda;
Zschocke, Johannes

Publication type:

Article

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

Published in:

Human Mutation, 2005, v. 26, n. 2, p. 84, doi. 10.1002/humu.20190

By:

Møller, Lisbeth Birk;
Bukrinsky, Jens Thostrup;
Mølgaard, Anne;
Paulsen, Marianne;
Lund, Connie;
Tümer, Zeynep;
Larsen, Sine;
Horn, Nina

Publication type:

Article

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A(Communicated by Henrik Dahl).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 457, doi. 10.1002/humu.10287

By:

Zeynep Tümer;
Lisbeth Birk Møller;
Nina Horn

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 2, p. 435, doi. 10.3390/genes14020435

By:

Lisbjerg, Kristian;
Grønskov, Karen;
Bertelsen, Mette;
Møller, Lisbeth Birk;
Kessel, Line

Publication type:

Article

Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.

Published in:

Genes, 2021, v. 12, n. 5, p. 744, doi. 10.3390/genes12050744

By:

Martinez-Fierro, Margarita L.;
Cabral-Pacheco, Griselda A.;
Garza-Veloz, Idalia;
Acuña-Quiñones, Jesus;
Martinez-de-Villarreal, Laura E.;
Ibarra-Ramirez, Marisol;
Beuten, Joke;
Sanchez-Guerrero, Samantha E.;
Villarreal-Martinez, Laura;
Delgado-Enciso, Ivan;
Rodriguez-Sanchez, Iram P.;
Zuñiga-Ramirez, Vania Z.;
Cardenas-Vargas, Edith;
Romero-Diaz, Viktor;
Møller, Lisbeth Birk

Publication type:

Article

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).

Published in:

Genes, 2021, v. 12, n. 5, p. 693, doi. 10.3390/genes12050693

By:

Yang, Eu Jeen;
Shim, Ye Jee;
Kim, Heung Sik;
Lim, Young Tak;
Im, Ho Joon;
Koh, Kyung-Nam;
Kim, Hyery;
Suh, Jin Kyung;
Park, Eun Sil;
Lee, Na Hee;
Choi, Young Bae;
Hah, Jeong Ok;
Lee, Jae Min;
Han, Jung Woo;
Lee, Jae Hee;
Lee, Young-Ho;
Jung, Hye Lim;
Ha, Jung-Sook;
Ki, Chang-Seok;
Møller, Lisbeth Birk

Publication type:

Article

Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome.

Published in:

Genes, 2021, v. 12, n. 1, p. 86, doi. 10.3390/genes12010086

By:

Hildonen, Mathis;
Levy, Amanda M.;
Dahl, Christina;
Bjerregaard, Victoria A.;
Birk Møller, Lisbeth;
Guldberg, Per;
Debes, Nanette M.;
Tümer, Zeynep

Publication type:

Article

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

Published in:

Genes, 2020, v. 11, n. 12, p. 1517, doi. 10.3390/genes11121517

By:

Jespersgaard, Cathrine;
Bertelsen, Mette;
Arif, Farah;
Gellert-Kristensen, Helene Gry;
Fang, Mingyan;
Jensen, Hanne;
Rosenberg, Thomas;
Tümer, Zeynep;
Møller, Lisbeth Birk;
Brøndum-Nielsen, Karen;
Grønskov, Karen

Publication type:

Article

Normalization of Fetal Cerebral and Hepatic Iron by Parental Iron Therapy to Pregnant Rats with Systemic Iron Deficiency without Anemia.

Published in:

Nutrients, 2024, v. 16, n. 19, p. 3264, doi. 10.3390/nu16193264

By:

Burkhart, Annette;
Johnsen, Kasper Bendix;
Skjørringe, Tina;
Nielsen, Asbjørn Haaning;
Routhe, Lisa Juul;
Hertz, Sandra;
Møller, Lisbeth Birk;
Thomsen, Lars Lykke;
Moos, Torben

Publication type:

Article

Mottled Mice and Non-Mammalian Models of Menkes Disease.

Published in:

Frontiers in Molecular Neuroscience, 2015, p. 1, doi. 10.3389/fnmol.2015.00072

By:

Lenartowicz, Małgorzata;
Krzeptowski, Wojciech;
Lipiński, Paweł;
Grzmil, Paweł;
Starzyński, Rafał;
Pierzchała, Olga;
Møller, Lisbeth Birk;
Ghose, Aurnab;
Padinjat, Raghu

Publication type:

Article

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.

Published in:

Movement Disorders, 2005, v. 20, n. 6, p. 764, doi. 10.1002/mds.20416

By:

Diepold, Katharina;
Schütz, Barbara;
Rostasy, Kevin;
Wilken, Bernd;
Hougaard, Pia;
Güttler, Flemming;
Romstad, Anne;
Birk Møller, Lisbeth

Publication type:

Article

Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC).

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040400

By:

Lenartowicz, Małgorzata;
Krzeptowski, Wojciech;
Koteja, Paweł;
Chrząścik, Katarzyna;
Møller, Lisbeth Birk

Publication type:

Article

Splice Site Mutations in the ATP7A Gene.

Published in:

PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018599

By:

Skjørringe, Tina;
Tümer, Zeynep;
Møller, Lisbeth Birk

Publication type:

Article

Investigation of Parameters that Affect the Success Rate of Microarray-Based Allele-Specific Hybridization Assays.

Published in:

PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0014777

By:

Poulsen, Lena;
Søe, Martin Jensen;
Møller, Lisbeth Birk;
Dufva, Martin

Publication type:

Article

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

Published in:

Cerebellum, 2022, v. 21, n. 3, p. 514, doi. 10.1007/s12311-021-01308-w

By:

Karlsson, William Kristian;
Højgaard, Joan Lilja Sunnleyg;
Vilhelmsen, Anna;
Crone, Clarissa;
Andersen, Birgit;
Law, Ian;
Møller, Lisbeth Birk;
Nielsen, Troels Tolstrup;
Nielsen, Emilie Neerup;
Krag, Thomas;
Svenstrup, Kirsten;
Nielsen, Jørgen Erik

Publication type:

Article

GCH1 variants, tetrahydrobiopterin and their effects on pain sensitivity.

Published in:

Scandinavian Journal of Pain, 2014, v. 5, n. 2, p. 121, doi. 10.1016/j.sjpain.2013.12.001

By:

Nasser, Arafat;
Møller, Lisbeth Birk

Publication type:

Article

mTORC1 hampers Hedgehog signaling in Tsc2 deficient cells.

Published in:

Life Science Alliance, 2024, v. 7, n. 11, p. 1, doi. 10.26508/lsa.202302419

By:

Larsen, Lasse Jonsgaard;
Østergaard, Elsebet;
Møller, Lisbeth Birk

Publication type:

Article

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 527, doi. 10.1002/mgg3.228

By:

Dad, Shzeena;
Rendtorff, Nanna Dahl;
Tranebjærg, Lisbeth;
Grønskov, Karen;
Karstensen, Helena Gásdal;
Brox, Vigdis;
Nilssen, Øivind;
Roux, Anne‐Françoise;
Rosenberg, Thomas;
Jensen, Hanne;
Møller, Lisbeth Birk

Publication type:

Article

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66588-4

By:

Rosengren, Thomas;
Nanhoe, Santoesha;
de Almeida, Luis Gustavo Dufner;
Schönewolf-Greulich, Bitten;
Larsen, Lasse Jonsgaard;
Hey, Caroline Amalie Brunbjerg;
Dunø, Morten;
Ek, Jakob;
Risom, Lotte;
Nellist, Mark;
Møller, Lisbeth Birk

Publication type:

Article

Clinical utility gene card for: Phenylketonuria.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.172

By:

Zschocke, Johannes;
Haverkamp, Thomas;
Møller, Lisbeth Birk

Publication type:

Article

Clinical presentation and mutations in Danish patients with Wilson disease.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 935, doi. 10.1038/ejhg.2011.80

By:

Møller, Lisbeth Birk;
Horn, Nina;
Jeppesen, Tina Dysgaard;
Vissing, John;
Wibrand, Flemming;
Jennum, Poul;
Ott, Peter

Publication type:

Article

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.

Published in:

Prenatal Diagnosis, 2005, v. 25, n. 8, p. 671, doi. 10.1002/pd.1193

By:

Møller, Lisbeth Birk;
Romstad, Anne;
Paulsen, Marianne;
Hougaard, Pia;
Ormazabal, Aida;
Pineda, Mercé;
Blau, Nenad;
Güttler, Flemming;
Artuch, Rafael

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.957794

By:

Kirk, Frederik Teicher;
Munk, Ditte Emilie;
Ek, Jakob;
Møller, Lisbeth Birk;
Thorup, Mette Bendixen;
Danielsen, Erik Hvid;
Vilstrup, Hendrik;
Ott, Peter;
Sandahl, Thomas Damgaard

Publication type:

Article

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-38007-2

By:

Jespersgaard, Cathrine;
Fang, Mingyan;
Bertelsen, Mette;
Dang, Xiao;
Jensen, Hanne;
Chen, Yulan;
Bech, Niels;
Dai, Lanlan;
Rosenberg, Thomas;
Zhang, Jianguo;
Møller, Lisbeth Birk;
Tümer, Zeynep;
Brøndum-Nielsen, Karen;
Grønskov, Karen

Publication type:

Article

Crosstalk of Hedgehog and mTORC1 Pathways.

Published in:

Cells (2073-4409), 2020, v. 9, n. 10, p. 2316, doi. 10.3390/cells9102316

By:

Larsen, Lasse Jonsgaard;
Møller, Lisbeth Birk

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1345, doi. 10.3390/ijms22031345

By:

Hey, Caroline Amalie Brunbjerg;
Larsen, Lasse Jonsgaard;
Tümer, Zeynep;
Brøndum-Nielsen, Karen;
Grønskov, Karen;
Hjortshøj, Tina Duelund;
Møller, Lisbeth Birk;
Shimo, Tsuyoshi

Publication type:

Article

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

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006236

By:

Nielsen, Emilie Neerup;
Ásbjörnsdóttir, Birna;
Møller, Lisbeth Birk;
Nielsen, Jørgen Erik;
Lindquist, Suzanne Granhøj

Publication type:

Article

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

Published in:

Nature, 2011, v. 475, n. 7354, p. 59, doi. 10.1038/nature10191

By:

Gourdon, Pontus;
Liu, Xiang-Yu;
Skjørringe, Tina;
Morth, J. Preben;
Møller, Lisbeth Birk;
Pedersen, Bjørn Panyella;
Nissen, Poul

Publication type:

Article

Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surface.

Published in:

Nucleic Acids Research, 2008, v. 36, n. 20, p. e132, doi. 10.1093/nar/gkn600

By:

Poulsen, Lena;
Søe, Martin Jensen;
Snakenborg, Detlef;
Møller, Lisbeth Birk;
Dufva, Martin

Publication type:

Article

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

Published in:

Frontiers in Molecular Neuroscience, 2021, v. 13, p. N.PAG, doi. 10.3389/fnmol.2021.532291

By:

Møller, Lisbeth Birk;
Mogensen, Mie;
Weaver, David D.;
Pedersen, Per Amstrup

Publication type:

Article

TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms.

Published in:

Cellular & Molecular Life Sciences, 2018, v. 75, n. 14, p. 2663, doi. 10.1007/s00018-018-2761-8

By:

Rosengren, Thomas;
Larsen, Lasse Jonsgaard;
Pedersen, Lotte Bang;
Christensen, Søren Tvorup;
Møller, Lisbeth Birk

Publication type:

Article

Structural models of the human copper P-type ATPases ATP7A and ATP7B.

Published in:

Biological Chemistry, 2012, v. 393, n. 4, p. 205, doi. 10.1515/hsz-2011-0249

By:

Gourdon, Pontus;
Sitsel, Oleg;
Karlsen, Jesper Lykkegaard;
Møller, Lisbeth Birk;
Nissen, Poul

Publication type:

Article