Associated Papers
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
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H et al.
Scientific Reports, 2014
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH et al.
Journal of Medical Genetics, 2013
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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