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SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
Known as:
SPG28
, Spastic Paraplegia 28, Autosomal Recessive
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National Institutes of Health
Topic mentions per year
Topic mentions per year
2005-2016
0
2
4
2005
2016
Related topics
Related topics
6 relations
Abnormal pyramidal signs
Autosomal recessive inheritance
Lower limb muscle weakness
Scoliosis, unspecified
(More)
Broader (1)
Paraplegia
Related mentions per year
Related mentions per year
1936-2018
1940
1960
1980
2000
2020
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
Autosomal recessive inheritance
Scoliosis, unspecified
Paraplegia
Abnormal pyramidal signs
Talipes cavus
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast.
Pradeep Kumar Yadav
,
Ram Rajasekharan
The Journal of biological chemistry
2016
The DDHD domain-containing proteins, which belong to the intracellular phospholipase A1 (iPLA1) family, have been predicted to be…Â
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2016
2016
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.
Andrea Mignarri
,
Anna Rubegni
,
+9 authors
Maria Teresa Dotti
Journal of the neurological sciences
2016
Mutations in DDHD1 cause the SPG28 subtype of hereditary spastic paraplegia (HSP). Recent studies suggested that mitochondrial…Â
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2016
2016
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Shiroh Miura
,
Takuya Morikawa
,
+6 authors
Hiroki Shibata
European journal of medical genetics
2016
Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54…Â
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2016
2016
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis
Chujun Wu
,
Dongsheng Fan
Front. Aging Neurosci.
2016
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is…Â
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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
Rocco Liguori
,
Maria Pia Giannoccaro
,
+5 authors
Maria Teresa Bassi
Journal of Neurology
2014
Mutations in DDHD1 gene have been associated with the SPG28 subtype of Hereditary Spastic Paraparesis (HSP). Clinical phenotype…Â
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2007
2007
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
Nizar Elleuch
,
Naima Bouslam
,
+16 authors
Giovanni Stevanin
Neurogenetics
2007
Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly…Â
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2007
2007
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
Stephan Klebe
,
Alexandra Durr
,
+14 authors
Giovanni Stevanin
American journal of medical genetics. Part B…
2007
Thirty-three different loci for hereditary spastic paraplegias (HSP) have been mapped, and 15 responsible genes have been…Â
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2005
2005
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Naima Bouslam
,
Ali Benomar
,
+9 authors
Giovanni Stevanin
Annals of neurology
2005
Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped the…Â
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