Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG54
Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54.
Xu X et al.
Frontiers in Pediatrics, 2022
Clinical Manifestations Associated with the Domain-Containing Protein 2 Gene Mutation in an Iranian Family with Spastic Paraplegia 54.
Yari A et al.
Neuro-degenerative Diseases, 2022
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
Nicita F et al.
Journal of Neurology, 2019
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.
Kumar KR et al.
Neurogenetics, 2016
Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.
Kamate M et al.
Annals of Indian Academy of Neurology, 0
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