Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG54
Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
Chou YT et al.
Annals of Clinical and Translational Neurology, 2023
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
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.
Inloes JM et al.
Biochemistry, 2018
Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).
Alrayes N et al.
Bmc Research Notes, 2015
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H et al.
Scientific Reports, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G et al.
Science (new York, N.y.), 2014
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
Gonzalez M et al.
European Journal of Human Genetics : Ejhg, 2013
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Schuurs-Hoeijmakers JH et al.
American Journal of Human Genetics, 2012
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