Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG20
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.
Liang H et al.
Annals of the New York Academy of Sciences, 2020
A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome.
Khoshaeen A et al.
Journal of Genetics, 2020
Novel SPG20 mutation in an extended family with Troyer syndrome.
Bizzari S et al.
Metabolic Brain Disease, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Three cases of Troyer syndrome in two families of Filipino descent.
Butler S et al.
American Journal of Medical Genetics. Part A, 2016
Hereditary spastic paraplegia protein spartin is an FK506-binding protein identified by mRNA display.
Tokunaga M et al.
Chemistry & Biology, 2013
Developmental and degenerative features in a complicated spastic paraplegia.
Manzini MC et al.
Annals of Neurology, 2010
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