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Lisbeth Birk Møller

Showing results (21-30 of 63) with videos related to

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Biological Chemistry|October 3, 2012
Structural models of the human copper P-type ATPases ATP7A and ATP7BPontus Gourdon, Oleg Sitsel, Jesper Lykkegaard Karlsen, et al.
Genetic Testing|February 25, 2005
X-linked Menkes disease: first documented report of germ-line mosaicismLena Poulsen, Lisbeth Birk Møller, Katie Plunkett, et al.
Molecular Genetics and Metabolism|September 24, 2005
Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complexLisbeth Birk Møller, Marianne Paulsen, Richard Koch, et al.
Cellular and Molecular Life Sciences : CMLS|February 4, 2018
TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanismsThomas Rosengren, Lasse Jonsgaard Larsen, Lotte Bang Pedersen, et al.
American Journal of Human Genetics|July 11, 2006
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sitesMarianne Paulsen, Connie Lund, Zarqa Akram, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystoniaEmilie Neerup Nielsen, Birna Ásbjörnsdóttir, Lisbeth Birk Møller, et al.
Scientific Reports|April 9, 2017
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes diseaseTina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, et al.
BMJ Case Reports|March 8, 2022
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)Birna Ásbjörnsdóttir, Otto Mølby Henriksen, Suzanne Lindquist, et al.
Frontiers in Molecular Neuroscience|January 7, 2016
Mottled Mice and Non-Mammalian Models of Menkes DiseaseMałgorzata Lenartowicz, Wojciech Krzeptowski, Paweł Lipiński, et al.
The Journal of Pediatrics|July 9, 2004
Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single familyBettina Borm, Lisbeth Birk Møller, Ingrid Hausser, et al.
Pageof 7

Showing results (21-30 of 63) with videos related to

Sort By:
Pageof 7
Biological Chemistry|October 3, 2012
Structural models of the human copper P-type ATPases ATP7A and ATP7BPontus Gourdon, Oleg Sitsel, Jesper Lykkegaard Karlsen, et al.
Genetic Testing|February 25, 2005
X-linked Menkes disease: first documented report of germ-line mosaicismLena Poulsen, Lisbeth Birk Møller, Katie Plunkett, et al.
Molecular Genetics and Metabolism|September 24, 2005
Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complexLisbeth Birk Møller, Marianne Paulsen, Richard Koch, et al.
Cellular and Molecular Life Sciences : CMLS|February 4, 2018
TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanismsThomas Rosengren, Lasse Jonsgaard Larsen, Lotte Bang Pedersen, et al.
American Journal of Human Genetics|July 11, 2006
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sitesMarianne Paulsen, Connie Lund, Zarqa Akram, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystoniaEmilie Neerup Nielsen, Birna Ásbjörnsdóttir, Lisbeth Birk Møller, et al.
Scientific Reports|April 9, 2017
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes diseaseTina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, et al.
BMJ Case Reports|March 8, 2022
Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)Birna Ásbjörnsdóttir, Otto Mølby Henriksen, Suzanne Lindquist, et al.
Frontiers in Molecular Neuroscience|January 7, 2016
Mottled Mice and Non-Mammalian Models of Menkes DiseaseMałgorzata Lenartowicz, Wojciech Krzeptowski, Paweł Lipiński, et al.
The Journal of Pediatrics|July 9, 2004
Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single familyBettina Borm, Lisbeth Birk Møller, Ingrid Hausser, et al.
Pageof 7