SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
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- The Journal of biological chemistry
The DDHD domain-containing proteins, which belong to the intracellular phospholipase A1 (iPLA1) family, have been predicted to be… (More)
- Journal of the neurological sciences
Mutations in DDHD1 cause the SPG28 subtype of hereditary spastic paraplegia (HSP). Recent studies suggested that mitochondrial… (More)
- European journal of medical genetics
Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54… (More)
- Front. Aging Neurosci.
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is… (More)
Mutations in DDHD1 gene have been associated with the SPG28 subtype of Hereditary Spastic Paraparesis (HSP). Clinical phenotype… (More)
Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly… (More)
Thirty-three different loci for hereditary spastic paraplegias (HSP) have been mapped, and 15 responsible genes have been… (More)
Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped the… (More)