X-linked recessive Menkes disease: identification of partial gene deletions in affected males
Poulsen, L, Horn, N, Heilstrup, H, Lund, C, Tümer, Z, Møller, LB
Published in Clinical genetics (01.12.2002)
Published in Clinical genetics (01.12.2002)
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Journal Article
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract
Dad, S, Østergaard, E, Thykjær, T, Albrectsen, A, Ravn, K, Rosenberg, T, Møller, LB
Published in Clinical genetics (01.10.2010)
Published in Clinical genetics (01.10.2010)
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Journal Article
Plasma membrane proteome analysis identifies a role of barley membrane steroid binding protein in root architecture response to salinity
Witzel, Katja, Matros, Andrea, Møller, Anders L.B., Ramireddy, Eswarayya, Finnie, Christine, Peukert, Manuela, Rutten, Twan, Herzog, Andreas, Kunze, Gotthard, Melzer, Michael, Kaspar‐Schoenefeld, Stephanie, Schmülling, Thomas, Svensson, Birte, Mock, Hans‐Peter
Published in Plant, cell and environment (01.06.2018)
Published in Plant, cell and environment (01.06.2018)
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Journal Article
Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity
Nasser, Arafat, Møller, Anette Torvin, Hellmund, Vibe, Thorborg, Sidsel Salling, Jespersgaard, Cathrine, Bjerrum, Ole J, Dupont, Erik, Nachman, Gösta, Lykkesfeldt, Jens, Jensen, Troels Staehelin, Møller, Lisbeth Birk
Published in Pain (Amsterdam) (01.06.2018)
Published in Pain (Amsterdam) (01.06.2018)
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Journal Article
A 37‐year‐old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial treatment
Tümer, Z., Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N., Møller, L.B
Published in Clinical genetics (01.11.2017)
Published in Clinical genetics (01.11.2017)
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Journal Article
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark
Bayat, A., Yasmeen, S., Lund, A., Nielsen, J.B., Møller, L.B.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Journal Article
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
Van Hove, J L K, Steyaert, J, Matthijs, G, Legius, E, Theys, P, Wevers, R, Romstad, A, Møller, L B, Hedrich, K, Goriounov, D, Blau, N, Klein, C, Casaer, P
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2006)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2006)
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Journal Article
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A
Møller, Lisbeth Birk, Bukrinsky, Jens Thostrup, Mølgaard, Anne, Paulsen, Marianne, Lund, Connie, Tümer, Zeynep, Larsen, Sine, Horn, Nina
Published in Human mutation (01.08.2005)
Published in Human mutation (01.08.2005)
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Journal Article
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations
Møller, Lisbeth Birk, Ott, Peter, Lund, Connie, Horn, Nina
Published in American journal of medical genetics. Part A (01.11.2005)
Published in American journal of medical genetics. Part A (01.11.2005)
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Journal Article
Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome
Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, Seidel, Jürg, Jensen, Lars Riff, Horn, Nina
Published in American journal of human genetics (01.04.2000)
Published in American journal of human genetics (01.04.2000)
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Journal Article
The cryptic adenine deaminase gene of Escherichia coli. Silencing by the nucleoid-associated DNA-binding protein, H-NS, and activation by insertion elements
Petersen, Carsten, Møller, Lisbeth Birk, Valentin-Hansen, Poul
Published in The Journal of biological chemistry (30.08.2002)
Published in The Journal of biological chemistry (30.08.2002)
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Journal Article
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease
Hertz, J. M., Østergaard, K., Juncker, I., Pedersen, S., Romstad, A., Møller, L. B., Güttler, F., Dupont, E.
Published in European journal of neurology (01.04.2006)
Published in European journal of neurology (01.04.2006)
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Journal Article