Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG45
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Verdura E et al.
Annals of Clinical and Translational Neurology, 2020
31854126 (PubMed )
Supplement: ACN3-7-105-s001.docx
Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability.
Naseer MI et al.
Frontiers in Genetics, 2020
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.
Elsaid MF et al.
Bmc Medical Genetics, 2017
Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.
Darvish H et al.
Npj Genomic Medicine, 2017
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