Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features
Bayat, Allan, Krett, Bjørg, Dunø, Morten, Torring, Pernille Mathiesen, Vissing, John
Published in American journal of medical genetics. Part A (01.07.2022)
Published in American journal of medical genetics. Part A (01.07.2022)
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Myopathy can be a key phenotype of membrin (GOSR2) deficiency
Stemmerik, Mads G., Borch, Josefine de S., Dunø, Morten, Krag, Thomas, Vissing, John
Published in Human mutation (01.09.2021)
Published in Human mutation (01.09.2021)
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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
Barington, Maria, Dunø, Morten, Birkedal, Ulf, Vissing, John, Born, Alfred Peter, Krag, Thomas, Hansen, Thomas van Overeem, Østergaard, Elsebet
Published in Neuromuscular disorders : NMD (01.07.2023)
Published in Neuromuscular disorders : NMD (01.07.2023)
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Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders
Pedersen, Jonas Jalili, Stemmerik, Mads Godtfeldt, Jacobsen, Laura Nørager, Skriver, Sofie Vinther, Wilms, Gustav Rhode, Duno, Morten, Vissing, John
Published in Scientific reports (13.02.2023)
Published in Scientific reports (13.02.2023)
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Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)
Lindskov, Filippa Orlien, Karlsson, William Kristian, Skovbølling, Sara Lyngby, Nielsen, Emilie Neerup, Dunø, Morten, Stokholm, Jette, Henriksen, Otto Mølby, Langkilde, Annika Reynberg, Nielsen, Jørgen Erik
Published in Cerebellum (London, England) (01.04.2024)
Published in Cerebellum (London, England) (01.04.2024)
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Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants
Solheim, Tuva Å., Fornander, Freja, Raja, Anna A., Møgelvang, Rasmus, Poulsen, Nanna S., Dunø, Morten, Bundgaard, Henning, Vissing, John
Published in Frontiers in neurology (27.07.2021)
Published in Frontiers in neurology (27.07.2021)
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Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants
Fornander, Freja, Solheim, Tuva Åsatun, Eisum, Anne-Sofie Vibæk, Poulsen, Nanna Scharff, Andersen, Annarita Ghosh, Dahlqvist, Julia Rebecka, Dunø, Morten, Vissing, John
Published in Frontiers in neurology (03.09.2021)
Published in Frontiers in neurology (03.09.2021)
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Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)
Diness, Birgitte Rode, Palmquist, Rachel Nina, Norling, Rikke, Hove, Hanne, Bundgaard, Henning, Hertz, Jens Michael, Kondziella, Daniel, Krieger, Derk, Dunø, Morten, Grønborg, Sabine
Published in Journal of the neurological sciences (15.08.2020)
Published in Journal of the neurological sciences (15.08.2020)
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Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
Toft, Anders, Birk, Steffen, Ballegaard, Martin, Dunø, Morten, Hjermind, Lena E., Nielsen, Jørgen E., Svenstrup, Kirsten
Published in Journal of neurology (01.03.2019)
Published in Journal of neurology (01.03.2019)
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High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
Rasmussen, Astrid, Hildonen, Mathis, Vissing, John, Duno, Morten, Tümer, Zeynep, Birkedal, Ulf
Published in Genes (28.05.2022)
Published in Genes (28.05.2022)
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Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report
Nersesjan, Vardan, Hansen, Klaus, Krag, Thomas, Duno, Morten, Jeppesen, Tina D
Published in BMC neurology (22.10.2019)
Published in BMC neurology (22.10.2019)
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Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population
Rosenberg, Thomas, Nørby, Søren, Schwartz, Marianne, Saillard, Juliette, Magalhães, Paulo J, Leroy, David, Kann, Erik C, Duno, Morten
Published in Investigative ophthalmology & visual science (01.03.2016)
Published in Investigative ophthalmology & visual science (01.03.2016)
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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform
Vaeth, Signe, Christensen, Rikke, Dunø, Morten, Lildballe, Dorte Launholt, Thorsen, Kasper, Vissing, John, Svenstrup, Kirsten, Hertz, Jens Michael, Andersen, Henning, Jensen, Uffe Birk
Published in European journal of medical genetics (01.01.2019)
Published in European journal of medical genetics (01.01.2019)
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Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity
Naume, Marie Mostue, Zhao, Qiaolin, Haslund-Krog, Sissel Sundell, Krag, Thomas, Winter, Brenda C.M. de, Revsbech, Karoline Lolk, Vissing, John, Holst, Helle, Møller, Morten Hylander, Hornsyld, Tessa Munkeboe, Dunø, Morten, Hoei-Hansen, Christina Engel, Born, Alfred Peter, Bo Jensen, Per, Cathrine Ørngreen, Mette
Published in Neuromuscular disorders : NMD (01.01.2024)
Published in Neuromuscular disorders : NMD (01.01.2024)
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DNA methylation signature classification of rare disorders using publicly available methylation data
Hildonen, Mathis, Ferilli, Marco, Hjortshøj, Tina Duelund, Dunø, Morten, Risom, Lotte, Bak, Mads, Ek, Jakob, Møller, Rikke S., Ciolfi, Andrea, Tartaglia, Marco, Tümer, Zeynep
Published in Clinical genetics (01.06.2023)
Published in Clinical genetics (01.06.2023)
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Increased risk of sudden death in untreated primary carnitine deficiency
Rasmussen, Jan, Dunø, Morten, Lund, Allan M., Steuerwald, Ulrike, Hansen, Steen‐Holger, Joensen, Høgni D., Køber, Lars, Nielsen, Olav W.
Published in Journal of inherited metabolic disease (01.03.2020)
Published in Journal of inherited metabolic disease (01.03.2020)
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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibæk, Maria, Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, Peter, Striano, Pasquale, Zara, Federico, Kleiss, Rebecca, Simpson, Michael, Muhle, Hiltrud, Nikanorova, Marina, Jepsen, Birgit, Tommerup, Niels, Stephani, Ulrich, Guerrini, Renzo, Duno, Morten, Hjalgrim, Helle, Pal, Deb, Helbig, Ingo, Møller, Rikke Steensbjerre, Craiu, DC, Caglayan, HS, Talvik, T, Weber, YG, Barisic, N
Published in Epilepsia (Copenhagen) (01.12.2015)
Published in Epilepsia (Copenhagen) (01.12.2015)
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