Missense dopamine transporter mutations associate with adult parkinsonism and ADHD
Hansen, Freja H, Skjørringe, Tina, Yasmeen, Saiqa, Arends, Natascha V, Sahai, Michelle A, Erreger, Kevin, Andreassen, Thorvald F, Holy, Marion, Hamilton, Peter J, Neergheen, Viruna, Karlsborg, Merete, Newman, Amy H, Pope, Simon, Heales, Simon J R, Friberg, Lars, Law, Ian, Pinborg, Lars H, Sitte, Harald H, Loland, Claus, Shi, Lei, Weinstein, Harel, Galli, Aurelio, Hjermind, Lena E, Møller, Lisbeth B, Gether, Ulrik
Published in The Journal of clinical investigation (01.07.2014)
Published in The Journal of clinical investigation (01.07.2014)
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Journal Article
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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Journal Article
Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance
Kaalund, Sanne S., Venø, Morten T., Bak, Mads, Møller, Rikke S., Laursen, Henning, Madsen, Flemming, Broholm, Helle, Quistorff, Bjørn, Uldall, Peter, Tommerup, Niels, Kauppinen, Sakari, Sabers, Anne, Fluiter, Kees, Møller, Lisbeth B., Nossent, Anne Y., Silahtaroglu, Asli, Kjems, Jørgen, Aronica, Eleonora, Tümer, Zeynep
Published in Epilepsia (Copenhagen) (01.12.2014)
Published in Epilepsia (Copenhagen) (01.12.2014)
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Journal Article
The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model
Ahring, Kirsten K, Dagnæs-Hansen, Frederik, Brüel, Annemarie, Christensen, Mette, Jensen, Erik, Jensen, Thomas G, Johannsen, Mogens, Johansen, Karen S, Lund, Allan M, Madsen, Jesper G, Brøndum-Nielsen, Karen, Pedersen, Michael, Sørensen, Lambert K, Kjolby, Mads, Møller, Lisbeth B
Published in PloS one (11.01.2022)
Published in PloS one (11.01.2022)
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Journal Article
The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity
Szigetvari, Peter D., Muruganandam, Gopinath, Kallio, Juha P., Hallin, Erik I., Fossbakk, Agnete, Loris, Remy, Kursula, Inari, Møller, Lisbeth B., Knappskog, Per M., Kursula, Petri, Haavik, Jan
Published in Journal of neurochemistry (01.01.2019)
Published in Journal of neurochemistry (01.01.2019)
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Journal Article
Intraplantar injection of tetrahydrobiopterin induces nociception in mice
Nasser, Arafat, Ali, Sawsan, Wilsbech, Signe, Bjerrum, Ole J., Møller, Lisbeth B.
Published in Neuroscience letters (01.01.2015)
Published in Neuroscience letters (01.01.2015)
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Journal Article
Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels
Møller, Lisbeth B., Rehfeld, Jens F., Bardow, Allan, Pedersen, Michael, Brøndum-Nielsen, Karen, Jensen, Thomas G., Jensen, Erik, Lund, Allan M., Ahring, Kirsten K., Holst, Jens J.
Published in Journal of nutrition and metabolism (01.01.2018)
Published in Journal of nutrition and metabolism (01.01.2018)
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Journal Article
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
Yasmeen, Saiqa, Lund, Katrine, De Paepe, Anne, De Bie, Sylvia, Heiberg, Arvid, Silva, João, Martins, Márcia, Skjørringe, Tina, Møller, Lisbeth B
Published in European journal of human genetics : EJHG (01.04.2014)
Published in European journal of human genetics : EJHG (01.04.2014)
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Journal Article
Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease
Herborg, Freja, Jensen, Kathrine L, Tolstoy, Sasha, Arends, Natascha V, Posselt, Leonie P, Shekar, Aparna, Aguilar, Jenny I, Lund, Viktor K, Erreger, Kevin, Rickhag, Mattias, Lycas, Matthew D, Lonsdale, Markus N, Rahbek-Clemmensen, Troels, Sørensen, Andreas T, Newman, Amy H, Løkkegaard, Annemette, Kjærulff, Ole, Werge, Thomas, Møller, Lisbeth B, Matthies, Heinrich Jg, Galli, Aurelio, Hjermind, Lena E, Gether, Ulrik
Published in JCI insight (22.09.2021)
Published in JCI insight (22.09.2021)
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Journal Article
Partial USH2A deletions contribute to Usher syndrome in Denmark
Dad, Shzeena, Rendtorff, Nanna D, Kann, Erik, Albrechtsen, Anders, Mehrjouy, Mana M, Bak, Mads, Tommerup, Niels, Tranebjærg, Lisbeth, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth B
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Journal Article
Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures
Lenartowicz, Malgorzata, Moos, Torben, Ogórek, Mateusz, Jensen, Thomas G, Møller, Lisbeth B
Published in Frontiers in molecular neuroscience (18.08.2016)
Published in Frontiers in molecular neuroscience (18.08.2016)
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Journal Article
Exon duplications in the ATP7A gene: frequency and transcriptional behaviour
Mogensen, Mie, Skjørringe, Tina, Kodama, Hiroko, Silver, Kenneth, Horn, Nina, Møller, Lisbeth B
Published in Orphanet journal of rare diseases (10.11.2011)
Published in Orphanet journal of rare diseases (10.11.2011)
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Journal Article
Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin
Nasser, Arafat, Møller, Lisbeth B., Olesen, Jess H., Konradsen, Louise S., Andreasen, Jesper T.
Published in Neuroscience research (01.12.2014)
Published in Neuroscience research (01.12.2014)
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Journal Article
Impaired Behavioural Pain Responses in hph-1 Mice with Inherited Deficiency in GTP Cyclohydrolase 1 in Models of Inflammatory Pain
Nasser, Arafat, Bjerrum, Ole J, Heegaard, Anne-Marie, Møller, Anette T, Larsen, Maj Britt, Dalbøge, Louise S, Dupont, Erik, Jensen, Troels S, Møller, Lisbeth B
Published in Molecular pain (19.02.2013)
Published in Molecular pain (19.02.2013)
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Journal Article
Menkes disease
Tuemer, Zeynep, Moeller, Lisbeth B
Published in European journal of human genetics : EJHG (01.05.2010)
Published in European journal of human genetics : EJHG (01.05.2010)
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Journal Article
Comparison of two different culture conditions for derivation of early hiPSC
Hey, Caroline A. B., Saltõkova, Katarina B., Bisgaard, Hanne C., Møller, Lisbeth B.
Published in Cell biology international (01.11.2018)
Published in Cell biology international (01.11.2018)
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Journal Article
Partial USH2A deletions contribute to Usher syndrome in Denmark
Dad, Shzeena, Rendtorff, Nanna D, Kann, Erik, Albrechtsen, Anders, Mehrjouy, Mana M, Bak, Mads, Tommerup, Niels, Tranebjærg, Lisbeth, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth B
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Journal Article
Biopterin responsive phenylalanine hydroxylase deficiency
Matalon, Reuben, Koch, Richard, Michals-Matalon, Kimberlee, Moseley, Kathryn, Surendran, Sankar, Tyring, Stephen, Erlandsen, Heidi, Gamez, Alejandra, Stevens, Raymond C., Romstad, Anne, Møller, Lisbeth B., Guttler, Flemming
Published in Genetics in medicine (01.01.2004)
Published in Genetics in medicine (01.01.2004)
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