Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

Overview of attention for article published in Biomarker Research, January 2023

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Addressing inter-individual variability in CSF levels of brain-derived proteins across neurodegenerative diseases

Preprint in medRxiv (May 2024)

Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis

Article in Animal Genetics (December 2023)

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1

Article in Molecular Genetics and Metabolism (July 2023)

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