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Pediatric Cardiology|April 10, 2012
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypesAlexandra Gudkova, Anna Kostareva, Gunnar Sjoberg, et al.
Journal of Muscle Research and Cell Motility|June 20, 2008
Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondriaAnna Kostareva, Gunnar Sjöberg, Joseph Bruton, et al.
Molecular Genetics and Metabolism|May 19, 2015
Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific mannerAnna Malashicheva, Maria Bogdanova, Arsenii Zabirnyk, et al.
The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|April 20, 2024
Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in SwedenThomas Sejersen, Sophie Graham, Anne-Berit Ekström, et al.
Muscle & Nerve|January 23, 2016
A protocol to develop clinical guidelines for inclusion-body myositisKatherine L Jones, Thomas Sejersen, Anthony A Amato, et al.
Frontiers in Genetics|January 23, 2019
Time- and Ventricular-Specific Expression Profiles of Genes Encoding Z-Disk Proteins in Pressure Overload Model of Left Ventricular HypertrophyAnastasia Knyazeva, Alexander Krutikov, Alexey Golovkin, et al.
Advances in Therapy|February 20, 2026
Medical Absenteeism and Premature Death in Spinal Muscular Atrophy in Sweden: A Population-Based Matched Register Study of People of Working AgeThomas Sejersen, Anne-Berit Ekström, Anna-Karin Kroksmark, et al.
Genes|October 20, 2020
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with <i>ALPK3</i> Homozygous and Compound Heterozygous VariantsJohn Jorholt, Yulia Formicheva, Tatyana Vershinina, et al.
Orphanet Journal of Rare Diseases|December 9, 2025
Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD surveyTeresinha Evangelista, Houda Ali, Charlotte Handberg, et al.
Journal of Medical Economics|June 1, 2022
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel studyErik Landfeldt, Rongrong Zhang, Anne-Marie Childs, et al.
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