编码99聚体重复序列扩增性骨骼肌疾病的多组学解析 - Suppr

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

作者信息

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

机构信息

Department of Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Neurological Institute Carlo Besta, Milan, Italy.

Department of Molecular and Translation Medicine, Unit of Biology and Genetics, University of Brescia, Brescia, Italy.

出版信息

Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25.

DOI:10.1007/s00401-020-02164-4

PMID:32451610

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7360652/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57d7/7360652/69765532faa9/401_2020_2164_Fig1_HTML.jpg

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