Crosstalk of Hedgehog and mTORC1 Pathways von Larsen, Lasse Jonsgaard, Møller, Lisbeth Birk

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Crystal structure of a copper-transporting PIB-type ATPase von Gourdon, Pontus, Liu, Xiang-Yu, Skjørringe, Tina, Morth, J. Preben, Møller, Lisbeth Birk, Pedersen, Bjørn Panyella, Nissen, Poul

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Generation of induced pluripotent stem cells, KCi004-A derived from a male with Parkinsońs disease and homozygous for the PINK1 variant c.1366C > T, p.Gln456 von Jonsgaard Larsen, Lasse, Birk Møller, Lisbeth

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TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms von Rosengren, Thomas, Larsen, Lasse Jonsgaard, Pedersen, Lotte Bang, Christensen, Søren Tvorup, Møller, Lisbeth Birk

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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease von Skjørringe, Tina, Amstrup Pedersen, Per, Salling Thorborg, Sidsel, Nissen, Poul, Gourdon, Pontus, Birk Møller, Lisbeth

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Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin von Huppke, Peter, Brendel, Cornelia, Kalscheuer, Vera, Korenke, Georg Christoph, Marquardt, Iris, Freisinger, Peter, Christodoulou, John, Hillebrand, Merle, Pitelet, Gaele, Wilson, Callum, Gruber-Sedlmayr, Ursula, Ullmann, Reinhard, Haas, Stefan, Elpeleg, Orly, Nürnberg, Gudrun, Nürnberg, Peter, Dad, Shzeena, Møller, Lisbeth Birk, Kaler, Stephen G., Gärtner, Jutta

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Normalization of Fetal Cerebral and Hepatic Iron by Parental Iron Therapy to Pregnant Rats with Systemic Iron Deficiency without Anemia von Burkhart, Annette, Johnsen, Kasper Bendix, Skjørringe, Tina, Nielsen, Asbjørn Haaning, Routhe, Lisa Juul, Hertz, Sandra, Møller, Lisbeth Birk, Thomsen, Lars Lykke, Moos, Torben

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Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31 -Associated Retinitis Pigmentosa in a Danish Cohort von Lisbjerg, Kristian, Grønskov, Karen, Bertelsen, Mette, Møller, Lisbeth Birk, Kessel, Line

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Structural models of the human copper P-type ATPases ATP7A and ATP7B von Gourdon, Pontus, Sitsel, Oleg, Karlsen, Jesper Lykkegaard, Møller, Lisbeth Birk, Nissen, Poul

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Ethics in pre-ART genetics: a missed X-linked Menkes disease case von Gerdes, A.-M. A., Møller, L. Birk, Horn, N.

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BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells von Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders von Skjørringe, Tina, Møller, Lisbeth Birk, Moos, Torben

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Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome von Hildonen, Mathis, Levy, Amanda M, Dahl, Christina, Bjerregaard, Victoria A, Birk Møller, Lisbeth, Guldberg, Per, Debes, Nanette M, Tümer, Zeynep

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Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A . No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15 von Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D, Pedersen, Per Amstrup

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Crosstalk between BH4, pain, and dystonia von Møller, Lisbeth Birk

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Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years von Kirk, Frederik Teicher, Munk, Ditte Emilie, Ek, Jakob, Birk Møller, Lisbeth, Bendixen Thorup, Mette, Hvid Danielsen, Erik, Vilstrup, Hendrik, Ott, Peter, Damgaard Sandahl, Thomas

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Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time von Horn, Nina, Møller, Lisbeth Birk, Nurchi, Valeria Marina, Aaseth, Jan

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Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10) von Ásbjörnsdóttir, Birna, Henriksen, Otto Mølby, Lindquist, Suzanne, Møller, Lisbeth Birk, Sidaros, Annette, Nielsen, Jørgen Erik

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Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant von Hey, Caroline Amalie Brunbjerg, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen, Hjortshøj, Tina Duelund, Møller, Lisbeth Birk

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The expanding clinical and genetic spectrum of DYNC1H1-related disorders von Möller, Birk, Becker, Lena-Luise, Saffari, Afshin, Afenjar, Alexandra, Coci, Emanuele G, Williamson, Rachel, Ward-Melver, Catherine, Gibaud, Marc, Sedláčková, Lucie, Laššuthová, Petra, Libá, Zuzana, Vlčková, Markéta, William, Nancy, Klee, Eric W, Gavrilova, Ralitza H, Lévy, Jonathan, Capri, Yline, Scavina, Mena, Körner, Robert Walter, Valuvullah, Zaheer, Weiß, Claudia, Möller, Greta Marit, Thiel, Moritz, Sinnema, Margje, Kamsteeg, Erik-Jan, Donkervoort, Sandra, Duboc, Veronique, Zaafrane-Khachnaoui, Khaoula, Elkhateeb, Nour, Selim, Laila, Margot, Henri, Marin, Victor, Beneteau, Claire, Isidor, Bertrand, Cogne, Benjamin, Keren, Boris, Küsters, Benno, Beggs, Alan H, Genetti, Casie A, Nicolai, Joost, Dötsch, Jörg, Koy, Anne, Bönnemann, Carsten G, von der Hagen, Maja, von Kleist-Retzow, Jürgen-Christoph, Voermans, Nicol, Jungbluth, Heinz, Dafsari, Hormos Salimi

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