Associated Papers
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.
De Pasquale V et al.
Cells, 2020
Inherited diseases caused by mutations in cathepsin protease genes.
Ketterer S et al.
The Febs Journal, 2017
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.
Bras J et al.
Neurobiology of Aging, 2016
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.
van der Zee J et al.
Neurology. Genetics, 2016
Brain imaging in Kufs disease type B: case reports.
Di Fabio R et al.
Bmc Neurology, 2015
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