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KIAA0196 wt Allele

Known as: RTSC, SPG8, Spastic Paraplegia 8 (Autosomal Dominant) Gene 
Human KIAA0196 wild-type allele is located in the vicinity of 8q24.13 and is approximately 68 kb in length. This allele, which encodes WASH complex… Expand
National Institutes of Health

Related topics

Related topics

4 relations
Homo sapiensIntracellular TransportLigand BindingMolecular Transport

Papers overview

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2014
2014
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
OBJECTIVE Substantial clinical, pathological, and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and… Expand
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2013
2013
Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene
SPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HSP), with only six SPG8 families described so far. Our… Expand
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Highly Cited
2007
Highly Cited
2007
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eighth HSP locus, SPG8, is on… Expand
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2006
2006
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12
Sir: Hereditary spastic paraplegia (SPG) is clinically heterogeneous with both pure and complicated forms. The complicated forms… Expand
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2005
2005
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by… Expand
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2002
2002
Functional differences between flounder and rat thiazide-sensitive Na-Cl cotransporter.
The purpose of the present study was to determine the major functional, pharmacological, and regulatory properties of the… Expand
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2002
2002
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.
Hereditary spastic paraplegia (HSP) includes a heterogeneous group of degenerative disorders of the central motor system… Expand
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1999
1999
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.
OBJECTIVE To map the gene responsible for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) in a large affected… Expand
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1988
1988
High-dose methotrexate improves clinical outcome in children with acute lymphoblastic leukemia: St. Jude Total Therapy Study X.
High-dose methotrexate (HDMTX, 1,000 mg/m2) and cranial irradiation/sequential chemotherapy (RTSC) were compared for ability to… Expand
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1988
1988
Efficacy of high-dose methotrexate in childhood acute lymphocytic leukemia: analysis by contemporary risk classifications.
High-dose methotrexate (HDMTX) added to a basic regimen of chemotherapy proved superior to cranial irradiation and sequentially… Expand
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