FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1988-2016
02419882016

Related topics

Related topics

4 relations
Homo sapiensIntracellular TransportLigand BindingMolecular Transport

Related mentions per year

Related mentions per year

1937-2018
19401960198020002020
KIAA0196 wt Allele
Homo sapiens
Intracellular Transport
Ligand Binding
Molecular Transport

Papers overview

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2013
2013
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous. Pure forms are characterized primarily by… (More)
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2012
2012
Hereditary spastic paraplegia caused by a mutation in the VCP gene.
Sir, The hereditary spastic paraplegias constitute a genetically and clinically heterogeneous group of disorders of which the… (More)
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2008
2008
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared… (More)
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Highly Cited
2007
Highly Cited
2007
High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer
The characterization of copy number alteration patterns in breast cancer requires high-resolution genome-wide profiling of a… (More)
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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… (More)
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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… (More)
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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… (More)
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1992
1992
The Institute of Electrical and Electronics Engineers Incorporated
Wednesday, May 7, 2014 8:30 am Breakfast 9:00 am – 12 Noon General Session 9:00 am Meeting called to order Gary Touryan  Welcome… (More)
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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… (More)
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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… (More)
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