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Cardiology|October 13, 2020
Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric PatientsTatiana Vershinina, Yulia Fomicheva, Alexey Muravyev, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 9, 2020
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophyJanbernd Kirschner, Nina Butoianu, Nathalie Goemans, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 16, 2025
Pilocytic astrocytoma in a child with spinal muscular atrophy treated with onasemnogene abeparvovecDorothea Holzwarth, Gabriele Calaminus, Johannes Friese, et al.
American Journal of Physiology. Cell Physiology|June 24, 2024
The rRNA epitranscriptome and myonuclear SNORD landscape in skeletal muscle fibers contributes to ribosome heterogeneity and is altered by a hypertrophic stimulusMinying Cui, Paulo Jannig, Maral Halladjian, et al.
Human Mutation|July 26, 2006
Variable pathogenic potentials of mutations located in the desmin alpha-helical domainBertrand Goudeau, Fernando Rodrigues-Lima, Dirk Fischer, et al.
Frontiers in Genetics|July 13, 2019
Truncating Variant in <i>Myof</i> Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and CardiomyopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, et al.
Human Mutation|June 3, 2018
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, et al.
Plos One|September 24, 2016
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation SequencingAnna Kostareva, Artem Kiselev, Alexandra Gudkova, et al.
Science (New York, N.Y.)|April 2, 2005
The kinase domain of titin controls muscle gene expression and protein turnoverStephan Lange, Fengqing Xiang, Andrey Yakovenko, et al.
The Journal of Clinical Investigation|July 3, 2025
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasisMenglan He, Mei Ding, Michaela Chocholouskova, et al.
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