Articles with "chchd10 linked" as a keyword



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Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy

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Published in 2022 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2022.793937

Abstract: Objective To characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms. Methods We collected serum samples from a cohort of 49 patients… read more here.

Keywords: creatine; chchd10 linked; linked spinal; serum ... See more keywords