Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG13
Missense Mutations of Human Hsp60: A Computational Analysis to Unveil Their Pathological Significance.
Vitale AM et al.
Frontiers in Genetics, 2020
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.
Yamamoto T et al.
Human Genome Variation, 2018
Data supporting mitochondrial morphological changes by SPG13-associated HSPD1 mutants.
Miyamoto Y et al.
Data in Brief, 2016
Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex.
Bross P et al.
Frontiers in Molecular Biosciences, 2016
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Magen D et al.
American Journal of Human Genetics, 2008
A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.
Hansen J et al.
Journal of Neurology, 2007
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