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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
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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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2016
2016
The DDHD domain-containing lipases belong to the intracellular phospholipase A1 (iPLA1) family. Phospholipases have been… 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
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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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