| http://purl.uniprot.org/citations/28818478 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28818478 | http://www.w3.org/2000/01/rdf-schema#comment | "Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is involved in the remodelling of phospholipids. We previously described a relatively pure hereditary spastic paraplegia (HSP) phenotype associated with mutations in DDHD1. Here we report a complex form of HSP associated with retinal dystrophy and a pattern of neurodegeneration with brain iron accumulation (NBIA) on brain MRI, due to a novel homozygous mutation in DDHD1. This observation enlarges the clinical spectrum of DDHD1-associated disorders and sheds light on a new aetiology for syndromes associating retinopathy and NBIA. It also emphasizes the role of complex lipids in the retina."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejmg.2017.08.015"xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/author | "Durr A."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/author | "Stevanin G."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/author | "Lamari F."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/author | "Mochel F."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/author | "Touitou V."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/author | "Ewenczyk C."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/author | "Dard R."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/author | "Meyniel C."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/name | "Eur J Med Genet"xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/pages | "639-642"xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/title | "Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation."xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://purl.uniprot.org/core/volume | "60"xsd:string |
| http://purl.uniprot.org/citations/28818478 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28818478 |
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