Associated Papers
Plasma neurofilament light chain in pediatric hereditary spastic paraplegia.
Sartorelli J et al.
Journal of the Neurological Sciences, 2026
DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.
Saber SH et al.
Nature Metabolism, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.
Messaoud-Khelifi M et al.
Neurogenetics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins.
Jia F et al.
Cell Death and Differentiation, 2024
Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
Chou YT et al.
Annals of Clinical and Translational Neurology, 2023
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL et al.
Brain : a Journal of Neurology, 2022
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
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
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis.
Maruyama T et al.
Cell Death & Disease, 2018
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.
Inloes JM et al.
Biochemistry, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore A et al.
Frontiers in Neurology, 2018
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H et al.
Scientific Reports, 2014
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
Magariello A et al.
European Journal of Neurology, 2014
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
Citterio A et al.
Journal of Neurology, 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