PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients
Author:
Funder
Ministero della Salute
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-023-11729-8.pdf
Reference15 articles.
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2. Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA (2020) Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Acta Neuropathol 140(2):231–235. https://doi.org/10.1007/s00401-020-02164-4
3. Bosma M (2016) Lipid droplet dynamics in skeletal muscle. Exp Cell Res 340(2):180–186. https://doi.org/10.1016/j.yexcr.2015.10.023
4. Sztalryd C, Brasaemle DL (2017) The perilipin family of lipid droplet proteins: gatekeepers of intracellular lipolysis. Biochim Biophys Acta 1862(10 Pt B):1221–1232. https://doi.org/10.1016/j.bbalip.2017.07.009
5. Pourteymour S, Lee S, Langleite TM, Eckardt K, Hjorth M, Bindesbøll C, Dalen KT, Birkeland KI, Drevon CA, Holen T, Norheim F (2015) Perilipin 4 in human skeletal muscle: localization and effect of physical activity. Physiol Rep 3(8):e12481. https://doi.org/10.14814/phy2.12481
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