Robust Surfactant-Assisted One-Pot Sample Preparation for Label-Free Single-Cell and Nanoscale Proteomics von Xu, Zhangyang, Zou, Rongge, Horn, Nina C., Kitata, Reta Birhanu, Shi, Tujin

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Clinical expression of Menkes disease in females with normal karyotype von Møller, Lisbeth Birk, Lenartowicz, Malgorzata, Zabot, Marie-Therese, Josiane, Arnaud, Burglen, Lydie, Bennett, Chris, Riconda, Daniel, Fisher, Richard, Janssens, Sandra, Mohammed, Shehla, Ausems, Margreet, Tümer, Zeynep, Horn, Nina, Jensen, Thomas G

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Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A von Møller, Lisbeth Birk, Bukrinsky, Jens Thostrup, Mølgaard, Anne, Paulsen, Marianne, Lund, Connie, Tümer, Zeynep, Larsen, Sine, Horn, Nina

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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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Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome von Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, Seidel, Jürg, Jensen, Lars Riff, Horn, Nina

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Chelating principles in Menkes and Wilson diseases von Horn, Nina, Møller, Lisbeth Birk, Nurchi, Valeria Marina, Aaseth, Jan

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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28 von REARDON, William, DONOGHUE, Veronica, MURPHY, Anne-Marie, KING, Mary D, MAYNE, Philip D, HORN, Nina, BIRK MOLLER, Lisbeth

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Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene von Møller, L B, Petersen, C, Lund, C, Horn, N

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Molecular diagnosis of Menkes disease: Genotype–phenotype correlation von Møller, Lisbeth Birk, Mogensen, Mie, Horn, Nina

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Clinical presentation and mutations in Danish patients with Wilson disease von MØLLER, Lisbeth Birk, HORN, Nina, JEPPESEN, Tina Dysgaard, VISSING, John, WIBRAND, Flemming, JENNUM, Poul, OTT, Peter

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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28 von Reardon, William, Donoghue, Veronica, Murphy, Anne-Marie, King, Mary D., Mayne, Philip D., Horn, Nina, Birk Møller, Lisbeth

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Menkes Disease: An X-Linked Neurological Disorder of the Copper Metabolism von Horn, Nina, Tønnesen, Tønne, Türner, Zeynep

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COPPER INCORPORATION STUDIES ON CULTURED CELLS FOR PRENATAL DIAGNOSIS OF MENKES' DISEASE von Horn, Nina

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Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene von Wibrand, Flemming, Ravn, Kirstine, Schwartz, Marianne, Rosenberg, Thomas, Horn, Nina, Vissing, John

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Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts von Jaksch, M, Paret, C, Stucka, R, Horn, N, Müller-Höcker, J, Horvath, R, Trepesch, N, Stecker, G, Freisinger, P, Thirion, C, Müller, J, Lunkwitz, R, Rödel, G, Shoubridge, E A, Lochmüller, H

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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein von Chelly, Jamel, Tümer, Zeynep, Tønnesen, Tønne, Petterson, Anne, Ishikawa-Brush, Yumiko, Tommerup, Niels, Horn, Nina, Monaco, Anthony P

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An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome von Ravn, K, Wibrand, F, Hansen, F J, Horn, N, Rosenberg, T, Schwartz, M

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Early copper-histidine treatment for Menkes disease von Tümer, Zeynep, Horn, Nina, Tønnesen, Tønne, Christodoulou, John, Clarke, Joe T.R, Sarkar, Bibudhendra

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An mtDNA mutation, 14453G1A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome von Ravn, Kirstine, Wibrand, Flemming, Hansen, Flemming Juul, Horn, Nina, Rosenberg, Thomas, Schwartz, Marianne

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Menkes Disease: Recent Advances and New Insights into Copper Metabolism von Türner, Zeynep, Horn, Nina

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