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SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)

Known as: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, SPG28 
National Institutes of Health

Related topics

Related topics

6 relations
Abnormal pyramidal signsAutosomal recessive inheritanceLower limb muscle weaknessScoliosis, unspecified

Broader (1)

Paraplegia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase.
Deleterious mutations in the serine hydrolase DDHD domain containing 1 (DDHD1) cause the SPG28 subtype of the neurological… 
2016
2016
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28
2016
2016
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is… 
2016
2016
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
2016
2016
DDHD domain-containing lipases: Targets for the treatment of rare diseases.
The DDHD domain-containing lipases belong to the intracellular phospholipase A1 (iPLA1) family. Phospholipases have been… 
2007
2007
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly… 
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