SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
Semantic Scholar uses AI to extract papers important to this topic.
Deleterious mutations in the serine hydrolase DDHD domain containing 1 (DDHD1) cause the SPG28 subtype of the neurological… Expand DDHD2/KIAA0725p is a mammalian intracellular phospholipase A1 that exhibits phospholipase and lipase activities. Mutation of the… Expand The DDHD domain-containing proteins, which belong to the intracellular phospholipase A1 (iPLA1) family, have been predicted to be… Expand Mutations in DDHD1 cause the SPG28 subtype of hereditary spastic paraplegia (HSP). Recent studies suggested that mitochondrial… Expand Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54… Expand Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is… Expand Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative disorders characterized by progressive… Expand Mutations in DDHD1 gene have been associated with the SPG28 subtype of Hereditary Spastic Paraparesis (HSP). Clinical phenotype… Expand Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified… Expand Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly… Expand