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Real-time quaking-induced conversion assays for prions: Applying a sensitive but imperfect test in clinical practice.
Jones SM, Lazar EB, Porter AL, Prusinski CC, Brier MR, Bucelli RC, Day GS. Jones SM, et al. Eur J Neurol. 2023 Jul;30(7):1854-1860. doi: 10.1111/ene.15795. Epub 2023 Apr 3. Eur J Neurol. 2023. PMID: 36940265
Patients with negative RT-QuIC had lower markers of neuronal damage (CSF total tau and protein 14-3-3) and longer symptomatic duration of disease, suggesting that false negative RT-QuIC testing associates with a more indolent course....
Patients with negative RT-QuIC had lower markers of neuronal damage (CSF total tau and protein 14-3-3) and longer symptomatic duration of di …
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
Thiels C, Lücke T, Rothoeft T, Lukas C, Nguyen HP, von Kleist-Retzow JC, Prokisch H, Grimmel M, Haack TB, Hoffjan S. Thiels C, et al. Neuropediatrics. 2024 Apr;55(2):140-145. doi: 10.1055/s-0043-1776013. Epub 2023 Oct 16. Neuropediatrics. 2024. PMID: 37846133 Free article.
The first patient was clinically suspected to have anti-myelin oligodendrocyte glycoprotein-antibody-associated myelitis, but the disease course overall deteriorated despite extensive immunomodulatory therapy. ...
The first patient was clinically suspected to have anti-myelin oligodendrocyte glycoprotein-antibody-associated myelitis, but the disease …