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Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
J Cell Mol Med. 2024 Apr;28(8):e18122. doi: 10.1111/jcmm.18122.
J Cell Mol Med. 2024.
PMID: 38652110
Free PMC article.
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
Braun F, Hentschel A, Sickmann A, Marteau T, Hertel S, Förster F, Prokisch H, Wagner M, Wortmann S, Della Marina A, Kölbel H, Roos A, Schara-Schmidt U.
Braun F, et al.
Int J Mol Sci. 2021 Jul 22;22(15):7835. doi: 10.3390/ijms22157835.
Int J Mol Sci. 2021.
PMID: 34360601
Free PMC article.
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