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Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

Alessandra Ruggieri, Sergey Naumenko, Martin A. Smith, Eliana Iannibelli, Flavia Blàsevich, Cinzia Bragato, Sara Gibertini, Kirston Barton, Matthias Vorgerd, Katrin Marcus, Peixiang Wang, Lorenzo Maggi, Renato Mantegazza, James J. Dowling, Rudolf A. Kley, Marina Mora, Berge A. Minassian

2020Acta Neuropathologica41 citationsDOIOpen Access PDF

Topics & Concepts

Skeletal muscleMuscle diseaseTrinucleotide repeat expansionCoding (social sciences)Computational biologyBiologyDiseaseGeneticsAnatomyMedicinePathologyGeneMathematicsStatisticsAlleleGenetic Neurodegenerative DiseasesCardiomyopathy and Myosin StudiesMuscle Physiology and Disorders
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease | Litcius