Blood phosphorylated tau 217 (p-tau217) accurately detects Alzheimer’s disease (AD) pathology but is also elevated in amyotrophic lateral sclerosis (ALS), likely reflecting peripheral (big) tau released from muscle. Assays selectively measuring brain-derived (BD-) tau and BD-p-tau217 are therefore needed. We analysed s...
S. Abu-Rumeileh, H. Großkopf, Arthur Guthknecht et al.· Nature Communications· 0 citations
Background Myotonic dystrophy type 2 (DM2) is a frequent yet underdiagnosed muscle disorder. Although muscle MRI is increasingly used in neuromuscular disorders, there is an overt lack of evidence regarding its role in DM2. This study aimed to characterise whole-body muscle involvement using semiquantitative and quanti...
Alexander Mensch, M. Heuschen, L. Barba et al.· Journal of Neurology Neurosu...· 0 citations
Summary Background Diabetes mellitus is a common but incompletely characterised manifestation of mitochondrial diseases (MD). Data on risk factors, clinical course, and treatment recommendations are lacking. Methods In this multinational cohort study, we analysed longitudinal data of patients with a genetically confirm...
Luisa Semmler, B. Büchner, C. Kornblum et al.· EBioMedicine· 0 citations
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