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Nicole Oubiña Viñas

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#protein folding Open access Aug 2026

Skogholt’s disease: multimodal evidence for choroid plexus–centred clearance failure

In vivo evidence is provided for choroid plexus dysfunction in a maternally inherited disorder with convergent evidence supporting a mitochondrial aetiology, associated with reduced CSF production and impaired blood–CSF barrier transport, substantially altering biomarker profiles in the absence of cortical atrophy or b...

P. Selnes, J. Jarholm, Antón Vila-Sanjurjo et al. · 0 citations

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