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SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)

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

Papers overview

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2018
2018
Deleterious mutations in the serine hydrolase DDHD domain containing 1 (DDHD1) cause the SPG28 subtype of the neurological… Expand
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2018
2018
DDHD2/KIAA0725p is a mammalian intracellular phospholipase A1 that exhibits phospholipase and lipase activities. Mutation of the… Expand
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2016
2016
The DDHD domain-containing proteins, which belong to the intracellular phospholipase A1 (iPLA1) family, have been predicted to be… Expand
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2016
2016
Mutations in DDHD1 cause the SPG28 subtype of hereditary spastic paraplegia (HSP). Recent studies suggested that mitochondrial… Expand
2016
2016
Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54… Expand
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2016
2016
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is… Expand
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Review
2015
Review
2015
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative disorders characterized by progressive… Expand
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2014
2014
Mutations in DDHD1 gene have been associated with the SPG28 subtype of Hereditary Spastic Paraparesis (HSP). Clinical phenotype… Expand
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Highly Cited
2009
Highly Cited
2009
Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified… Expand
2007
2007
Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly… Expand
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