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1

Clinical expression of Menkes disease in females with normal karyotype

Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeyne

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 204 KB

english, 2012

2

Solid oxide fuel cells powered by biomass gasification for high efficiency power generation

Gadsbøll, Rasmus Østergaard, Thomsen, Jesper, Bang-Møller, Christian, Ahrenfeldt, Jesper, Henriksen, Ulrik Birk

Journal:

Year:

2017

Language:

english

File:

PDF, 1.20 MB

english, 2017

3

Early development of occipital horns in a classical Menkes patient

M. Gérard-Blanluet, L. Birk-Møller, N. Horn, I. Caubel, A. Gélot, T. Billette de Villemeur

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

4

Early development of occipital horns in a classical Menkes patient (Am J Med Genet 130A: 211–213)

M. Gérard-Blanluet, L. Birk-Møller, N. Horn, I. Caubel, A. Gélot, T. Billette de Villemeur

Journal:

American Journal of Medical Genetics Part A

Year:

2005

File:

PDF, 25 KB

2005

5

Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations

Lisbeth Birk Møller, Peter Ott, Connie Lund, Nina Horn

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 85 KB

english, 2005

6

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A

Zeynep Tümer, Lisbeth Birk Møller, Nina Horn

Journal:

Year:

2003

Language:

english

File:

PDF, 141 KB

english, 2003

7

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

Lisbeth Birk Møller, Jens Thostrup Bukrinsky, Anne Mølgaard, Marianne Paulsen, Connie Lund, Zeynep Tümer, Sine Larsen, Nina Horn

Journal:

Year:

2005

Language:

english

File:

PDF, 541 KB

english, 2005

8

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

Lisbeth Birk Møller, Anders O.H. Nygren, Patrick Scott, Pia Hougaard, Jytte Bieber Nielsen, Caroline Hartmann, Flemming Güttler, Linda Tyfield, Johannes Zschocke

Journal:

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

9

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

Katharina Diepold, Barbara Schütz, Kevin Rostasy, Bernd Wilken, Pia Hougaard, Flemming Güttler, Anne Romstad, Lisbeth Birk Møller

Journal:

Movement Disorders

Year:

2005

Language:

english

File:

PDF, 63 KB

english, 2005

10

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

Emmanuel Roze, Marie Vidailhet, Nenad Blau, Lisbeth Birk Moller, Diane Doummar, Thierry Billette de Villemeur, Anne Roubergue

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 96 KB

english, 2006

11

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

Lisbeth Birk Møller, Anne Romstad, Marianne Paulsen, Pia Hougaard, Aida Ormazabal, Mercé Pineda, Nenad Blau, Flemming Güttler, Rafael Artuch

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

12

Advanced SuperCaps auf Basis nanostrukturierter Elektroden

Kai-C. Möller, Uwe Guntow, Martina Kapuschinski, Birke Olsowski

Journal:

Zeitschrift für anorganische und allgemeine Chemie

Year:

2008

Language:

german

File:

PDF, 30 KB

german, 2008

13

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication ofMECP2and adjacent loci on Xq28

William Reardon, Veronica Donoghue, Anne-Marie Murphy, Mary D. King, Philip D. Mayne, Nina Horn, Lisbeth Birk Møller

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 501 KB

english, 2010

14

Clinical presentation and mutations in Danish patients with Wilson disease

Møller, Lisbeth Birk, Horn, Nina, Jeppesen, Tina Dysgaard, Vissing, John, Wibrand, Flemming, Jennum, Poul, Ott, Peter

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 333 KB

english, 2011

15

Absence of humoral mediated 5′AMP-activated protein kinase activation in human skeletal muscle and adipose tissue during exercise

Jonas Møller Kristensen, Anders Bo Johnsen, Jesper B. Birk, Jakob Nis Nielsen, Bente Rona Jensen, Ylva Hellsten, Erik A. Richter, Jørgen F. P. Wojtaszewski

Journal:

The Journal of Physiology

Year:

2007

Language:

english

File:

PDF, 472 KB

english, 2007

16

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Peter Huppke, Cornelia Brendel, Georg Christoph Korenke, Iris Marquardt, Anthony Donsante, Ling Yi, Julia D. Hicks, Peter J. Steinbach, Callum Wilson, Orly Elpeleg, Lisbeth Birk Møller, John Christodo

Journal:

Year:

2012

Language:

english

File:

PDF, 475 KB

english, 2012

17

Cooperative binding of copper(I) to the metal binding domains in Menkes disease protein

Pia Yvonne Jensen, Nicklas Bonander, Lisbeth Birk Møller, Ole Farver

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Year:

1999

Language:

english

File:

PDF, 250 KB

english, 1999

18

Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria

H. Serap Kalkanoğlu, Kirsten K. Ahring, Durdu Sertkaya, Lisbeth Birk Møller, Anne Romstad, Ingrid Mikkelsen, Per Guldberg, Hans C. Lou, Flemming Güttler

Journal:

Acta Paediatrica

Year:

2005

Language:

english

File:

PDF, 72 KB

english, 2005

19

Temporal differences in the development of organ dysfunction based on two different approaches to induce experimental intra-abdominal hypertension in swine

Moller, Michael, Kjerkegaard, Ulrik K, Larsen, Jens, Birke-Sorensen, Hanne, Stolle, Lars B

Journal:

Annals of Intensive Care

Year:

2012

Language:

english

File:

PDF, 264 KB

english, 2012

20

Crystal structure of a copper-transporting PIB-type ATPase

Gourdon, Pontus, Liu, Xiang-Yu, Skjørringe, Tina, Morth, J. Preben, Møller, Lisbeth Birk, Pedersen, Bjørn Panyella, Nissen, Poul

Journal:

Year:

2011

Language:

english

File:

PDF, 2.02 MB

english, 2011

21

Molecular diagnosis of Menkes disease: Genotype–phenotype correlation

Lisbeth Birk Møller, Mie Mogensen, Nina Horn

Journal:

Year:

2009

Language:

english

File:

PDF, 240 KB

english, 2009

22

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family

Bettina Borm, Lisbeth Birk Møller, Ingrid Hausser, Michael Emeis, Kurt Baerlocher, Nina Horn, Rainer Rossi

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 584 KB

english, 2004

23

A Modified Surgical Technique for Treatment of Radiation-induced Vesicovaginal Fistulas

Mille Sværdborg, Hanne Birke-Sørensen, Karl Møller Bek, John Bugge Nielsen

Journal:

Year:

2012

Language:

english

File:

PDF, 735 KB

english, 2012

24

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

R Cerone, M.C Schiaffino, A.R Fantasia, M Perfumo, L Birk Moller, N Blau

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 148 KB

english, 2004

25

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex

Lisbeth Birk Møller, Marianne Paulsen, Richard Koch, Rex Moats, Per Guldberg, Flemming Güttler

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 391 KB

english, 2005

26

Characterization of the hCTR1 gene: Genomic organization, functional expression, and identification of a highly homologous processed gene

Lisbeth Birk Møller, Carsten Petersen, Connie Lund, Nina Horn

Journal:

Year:

2000

Language:

english

File:

PDF, 386 KB

english, 2000

27

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 706 KB

english, 2000

28

Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites

Marianne Paulsen, Connie Lund, Zarqa Akram, Jakob R. Winther, Nina Horn, Lisbeth Birk Møller

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.07 MB

english, 2006

29

Four novelPDHA1mutations in pyruvate dehydrogenase deficiency

Ostergaard, E., Moller, L. Birk, Kalkanoglu-Sivri, H. Serap, Dursun, A., Kibaek, M., Thelle, T., Christensen, E., Duno, M., Wibrand, F.

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 270 KB

english, 2009

30

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

Møller, Lisbeth Birk, Rea, Gillian, Yasmeen, Saiqa, Skjørringe, Tina, Thorborg, Sidsel Salling, Morrison, Patrick J., Donnelly, Deirdre E.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 183 KB

english, 2013

31

National events

Nasser, Arafat, Møller, Lisbeth Birk

Journal:

Journal of the American Academy of Dermatology

Year:

1980

Language:

english

File:

PDF, 166 KB

english, 1980

32

Correction

Nasser, Arafat, Møller, Lisbeth Birk

Journal:

Clinical Gastroenterology and Hepatology

Year:

2011

Language:

english

File:

PDF, 119 KB

english, 2011

33

GCH1 variants, tetrahydrobiopterin and their effects on pain sensitivity

Nasser, Arafat, Møller, Lisbeth Birk

Journal:

Scandinavian Journal of Pain

Year:

2014

Language:

english

File:

PDF, 702 KB

english, 2014

34

Copper-transporting P-type ATPases use a unique ion-release pathway

Andersson, Magnus, Mattle, Daniel, Sitsel, Oleg, Klymchuk, Tetyana, Nielsen, Anna Marie, Møller, Lisbeth Birk, White, Stephen H, Nissen, Poul, Gourdon, Pontus

Journal:

Nature Structural and Molecular Biology

Year:

2013

Language:

english

File:

PDF, 1.27 MB

english, 2013

35

Diagnostic value of soluble CD163 serum levels in patients suspected of meningitis: Comparison with CRP and procalcitonin

Bygum Knudsen, Troels, Larsen, Klaus, Birk Kristiansen, Thomas, Jon Møller, Holger, Tvede, Michael, Eugen-Olsen, Jesper, Kronborg, Gitte

Journal:

Scandinavian Journal of Infectious Diseases

Year:

2007

Language:

english

File:

PDF, 157 KB

english, 2007

36

Structural models of the human copper P-type ATPases ATP7A and ATP7B

Gourdon, Pontus, Sitsel, Oleg, Karlsen, Jesper Lykkegaard, Møller, Lisbeth Birk, Nissen, Poul

Journal:

Biological Chemistry

Year:

2012

Language:

english

File:

PDF, 1.60 MB

english, 2012

37

X-Linked Menkes Disease: First Documented Report of Germ-Line Mosaicism

Poulsen, Lena, Møller, Lisbeth Birk, Plunkett, Katie, Belmont, John, Tümer, Zeynep, Horn, Nina

Journal:

Genetic Testing

Year:

2004

Language:

english

File:

PDF, 110 KB

english, 2004

38

[IEEE OFC/NFOEC 2007 - 2007 Conference on Optical Fiber Communication and the National Fiber Optic Engineers Conference - Anaheim, CA, USA (2007.03.25-2007.03.29)] OFC/NFOEC 2007 - 2007 Conference on Optical Fiber Communication and the National Fiber Optic Engineers Conference - 107-Gb/s full-ETDM transmission over field installed fiber using vestigial sideband modulation

Jansen, S. L., Derksen, R. H., Schubert, C., Zhou, X., Birk, M., Weiske, C.-J., Bohn, M., van den Borne, D., Krummrich, P. M., Moller, M., Horst, F., Offrein, B. J., de Waardt, H., Khoe, G. D., Kirsta

Year:

2007

Language:

english

File:

PDF, 429 KB

english, 2007

39

Small amounts of functional ATP7A protein permit mild phenotype

Møller, Lisbeth Birk

Journal:

Journal of Trace Elements in Medicine and Biology

Year:

2015

Language:

english

File:

PDF, 636 KB

english, 2015

40

Clinical utility gene card for: Phenylketonuria

Zschocke, Johannes, Haverkamp, Thomas, Møller, Lisbeth Birk

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 160 KB

english, 2012

41

A NovelTTBK2De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

Lindquist, Suzanne Granhøj, Møller, Lisbeth Birk, Dali, Christine I, Marner, Lisbeth, Kamsteeg, Erik-Jan, Nielsen, Jørgen Erik, Hjermind, Lena Elisabeth

Journal:

Year:

2017

Language:

english

File:

PDF, 678 KB

english, 2017

42

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

Bayat, Allan, Yasmeen, Saiqa, Lund, Allan, Nielsen, Jytte Bieber, Møller, Lisbeth Birk

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 122 KB

english, 2015

43

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex

Møller, Lisbeth Birk, Schönewolf-Greulich, Bitten, Rosengren, Thomas, Larsen, Lasse Jonsgaard, Ostergaard, John R., Sommerlund, Mette, Ostenfeldt, Caroline, Stausbøl-Grøn, Brian, Linnet, Karen Markuss

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 2.77 MB

english, 2017

44

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

Skjørringe, Tina, Amstrup Pedersen, Per, Salling Thorborg, Sidsel, Nissen, Poul, Gourdon, Pontus, Birk Møller, Lisbeth

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 4.82 MB

english, 2017

45

Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC)

Lenartowicz, Małgorzata, Krzeptowski, Wojciech, Koteja, Paweł, Chrząścik, Katarzyna, Møller, Lisbeth Birk, Skoulakis, Efthimios M. C.

Journal:

Year:

2012

Language:

english

File:

PDF, 3.63 MB

english, 2012

46

Mottled Mice and Non-Mammalian Models of Menkes Disease

Lenartowicz, Małgorzata, Krzeptowski, Wojciech, Lipiński, Paweł, Grzmil, Paweł, Starzyński, Rafał, Pierzchała, Olga, Møller, Lisbeth Birk

Journal:

Frontiers in Molecular Neuroscience

Year:

2015

Language:

english

File:

PDF, 2.03 MB

english, 2015

47

Splice Site Mutations in the ATP7A Gene

Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk, Cobine, Paul

Journal:

Year:

2011

Language:

english

File:

PDF, 160 KB

english, 2011

48

TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms

Rosengren, Thomas, Larsen, Lasse Jonsgaard, Pedersen, Lotte Bang, Christensen, Søren Tvorup, Møller, Lisbeth Birk

Journal:

Cellular and Molecular Life Sciences

Year:

2018

Language:

english

File:

PDF, 2.31 MB

english, 2018

49

Comparison of two different culture conditions for derivation of early hiPSC

Hey, Caroline Amalie Brunbjerg, Saltoõkova, Katarina Beata, Bisgaard, Hanne Cathrine, Møller, Lisbeth Birk

Journal:

Cell Biology International

Year:

2018

Language:

english

File:

PDF, 1.04 MB

english, 2018

50

Investigation of Parameters that Affect the Success Rate of Microarray-Based Allele-Specific Hybridization Assays

Poulsen, Lena, Søe, Martin Jensen, Møller, Lisbeth Birk, Dufva, Martin, Toland, Amanda Ewart

Journal:

Year:

2011

Language:

english

File:

PDF, 818 KB

english, 2011

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