Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

by Tina D. Jeppesen, Morten Duno, John Vissing
Published 2020-10-01

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of <i>DMPK</i> in Patients with Myotonic Dystrophy Type 1

by Mathis Hildonen, Kirsten Lykke Knak, Morten Dunø, John Vissing, Zeynep Tümer
Published 2020-08-01

Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report

by Vardan Nersesjan, Klaus Hansen, Thomas Krag, Morten Duno, Tina D. Jeppesen
Published 2019-10-01

Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

by Arieh S. Cohen, Marta Baurek, Allan M. Lund, Morten Dunø, David M. Hougaard
Published 2019-05-01

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

by Patrick Soldath, Karen Lindhardt Madsen, Astrid Emilie Buch, Morten Duno, Flemming Wibrand, John Vissing
Published 2017-10-01

Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark

by Nicola Hepp, Anja Lisbeth Frederiksen, Morten Duno, Jakob Præst Holm, Niklas Rye Jørgensen, Jens-Erik Beck Jensen
Published 2021-12-01

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

by Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M. Hansen, Anna-Helene Bohr, Morten Duno, Flemming Wibrand, Elsebet Ostergaard
Published 2015-06-01

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

by Tuva Å. Solheim, Freja Fornander, Anna A. Raja, Rasmus Møgelvang, Nanna S. Poulsen, Morten Dunø, Henning Bundgaard, John Vissing
Published 2021-07-01

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency

by Jan Rasmussen, Allan M. Lund, Lotte Risom, Flemming Wibrand, Hannes Gislason, Olav W. Nielsen, Lars Køber, Morten Duno
Published 2014-01-01

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

by Lotte Risom, Line Christoffersen, Jette Daugaard-Jensen, Hanne Dahlgaard Hove, Henriette Skovgaard Andersen, Brage Storstein Andresen, Sven Kreiborg, Morten Duno
Published 2013-01-01

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

by Freja Fornander, Tuva Åsatun Solheim, Anne-Sofie Vibæk Eisum, Nanna Scharff Poulsen, Annarita Ghosh Andersen, Julia Rebecka Dahlqvist, Morten Dunø, John Vissing
Published 2021-09-01

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

by Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen
Published 2021-07-01

Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle

by Andreas M. Fritzen, Frank B. Thøgersen, Kasper Thybo, Christoffer R. Vissing, Thomas O. Krag, Cristina Ruiz-Ruiz, Lotte Risom, Flemming Wibrand, Louise D. Høeg, Bente Kiens, Morten Duno, John Vissing, Tina D. Jeppesen
Published 2019-03-01

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

by Karin A W Wadt, Lauren G Aoude, Lotte Krogh, Lone Sunde, Anders Bojesen, Karen Grønskov, Nine Wartacz, Jakob Ek, Morten Tolstrup-Andersen, Mette Klarskov-Andersen, Åke Borg, Steffen Heegaard, Jens F Kiilgaard, Thomas V O Hansen, Kerenaftali Klein, Göran Jönsson, Krzysztof T Drzewiecki, Morten Dunø, Nicholas K Hayward, Anne-Marie Gerdes
Published 2015-01-01