Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG20
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.
Diquigiovanni C et al.
Open Biology, 2023
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F et al.
Human Genetics, 2020
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
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