Associated Papers
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG28
A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literature.
Pinheiro RG et al.
Parkinsonism & Related Disorders, 2024
Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia.
Morikawa T et al.
Bioscience Reports, 2021
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Miura S et al.
European Journal of Medical Genetics, 2016
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.
Wu C et al.
Frontiers in Aging Neuroscience, 2016
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