Menkes disease von Tuemer, Zeynep, Moeller, Lisbeth B

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Editorial: The Neurodietetics and Genetics of Copper and Iron von Moos, Torben, Moller, Lisbeth B.

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Comparison of two different culture conditions for derivation of early hiPSC von Hey, Caroline A. B., Saltõkova, Katarina B., Bisgaard, Hanne C., Møller, Lisbeth B.

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Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance von 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

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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients von 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

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Missense dopamine transporter mutations associate with adult parkinsonism and ADHD von 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

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The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model von 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

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

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Intraplantar injection of tetrahydrobiopterin induces nociception in mice von Nasser, Arafat, Ali, Sawsan, Wilsbech, Signe, Bjerrum, Ole J., Møller, Lisbeth B.

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Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels von 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.

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Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon von Yasmeen, Saiqa, Lund, Katrine, De Paepe, Anne, De Bie, Sylvia, Heiberg, Arvid, Silva, João, Martins, Márcia, Skjørringe, Tina, Møller, Lisbeth B

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Identifying dominant-negative actions of a dopamine transporter variant in patients with parkinsonism and neuropsychiatric disease von Herborg, Freja, Jensen, Kathrine L., Tolstoy, Sasha, Arends, Natascha, Posselt, Leonie P., Shekar, Aparna, Aguilar, Jenny, Lund, Viktor K., Erreger, Kevin, Rickhag, Mattias, Lycas, Matthew D., Lonsdale, Markus N., Rahbek-Clemmensen, Troels, Sorensen, Andreas T., Newman, Amy H., Lokkegaard, Annemette, Kjaerulff, Ole, Werge, Thomas, Moller, Lisbeth B., Matthies, Heinrich J. G., Galli, Aurelio, Hjermind, Lena E., Gether, Ulrik

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Partial USH2A deletions contribute to Usher syndrome in Denmark von 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

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Impaired Behavioural Pain Responses in hph-1 Mice with Inherited Deficiency in GTP Cyclohydrolase 1 in Models of Inflammatory Pain von 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

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Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures von Lenartowicz, Malgorzata, Moos, Torben, Ogórek, Mateusz, Jensen, Thomas G, Møller, Lisbeth B

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Exon duplications in the ATP7A gene: frequency and transcriptional behaviour von Mogensen, Mie, Skjørringe, Tina, Kodama, Hiroko, Silver, Kenneth, Horn, Nina, Møller, Lisbeth B

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Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin von Nasser, Arafat, Møller, Lisbeth B., Olesen, Jess H., Konradsen, Louise S., Andreasen, Jesper T.

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Biopterin responsive phenylalanine hydroxylase deficiency von 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

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Diagnosis of copper transport disorders von Møller, Lisbeth B, Hicks, Julia D, Holmes, Courtney S, Goldstein, David S, Brendl, Cornelia, Huppke, Peter, Kaler, Stephen G

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Small amounts of functional ATP7A protein permit mild phenotype von Møller, Lisbeth Birk

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