Associated Papers
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Kaminska K et al.
American Journal of Human Genetics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG48
Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.
Carrasco Salas P et al.
The International Journal of Neuroscience, 2022
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