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SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)

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

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Related topics

6 relations
Abnormal pyramidal signsAutosomal recessive inheritanceLower limb muscle weaknessScoliosis, unspecified
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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… Expand
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2018
2018
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis
DDHD2/KIAA0725p is a mammalian intracellular phospholipase A1 that exhibits phospholipase and lipase activities. Mutation of the… Expand
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2016
2016
Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast*
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
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28
Mutations in DDHD1 cause the SPG28 subtype of hereditary spastic paraplegia (HSP). Recent studies suggested that mitochondrial… Expand
2016
2016
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
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
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… Expand
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Review
2015
Review
2015
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative disorders characterized by progressive… Expand
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2014
2014
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
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
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified… Expand
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… Expand
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