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KIAA0196 wt Allele
Known as:
RTSC
, SPG8
, Spastic Paraplegia 8 (Autosomal Dominant) Gene
Â
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…Â
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National Institutes of Health
Topic mentions per year
Topic mentions per year
1988-2016
0
2
4
1988
2016
Related topics
Related topics
4 relations
Homo sapiens
Intracellular Transport
Ligand Binding
Molecular Transport
Related mentions per year
Related mentions per year
1937-2018
1940
1960
1980
2000
2020
KIAA0196 wt Allele
Homo sapiens
Intracellular Transport
Ligand Binding
Molecular Transport
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment
Conceição Bettencourt
,
Huw R Morris
,
Andrew B. Singleton
,
John Hardy
,
Henry Houlden
Journal of Neurology
2013
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous. Pure forms are characterized primarily by…Â
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2012
2012
Hereditary spastic paraplegia caused by a mutation in the VCP gene.
Susanne T de Bot
,
Helenius Jurgen Schelhaas
,
Erik-Jan Kamsteeg
,
Bart. P. C. van de Warrenburg
Brain : a journal of neurology
2012
Sir, The hereditary spastic paraplegias constitute a genetically and clinically heterogeneous group of disorders of which the…Â
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2008
2008
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
Guo-hua Zhao
,
Zheng-mao Hu
,
+7 authors
Bei-sha Tang
Chinese medical journal
2008
BACKGROUND Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared…Â
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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
S. Chin
,
Andrew E. Teschendorff
,
+13 authors
Carlos H. Caldas
Genome Biology
2007
The characterization of copy number alteration patterns in breast cancer requires high-resolution genome-wide profiling of a…Â
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Highly Cited
2007
Highly Cited
2007
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Paul N. Valdmanis
,
Inge Anita Meijer
,
+8 authors
Guy Rouleau
American journal of human genetics
2007
Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eighth HSP locus, SPG8, is on…Â
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2006
2006
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12
Stephan Züchner
,
Melanie E. Kail
,
+5 authors
Allison E. Ashley-Koch
Neurogenetics
2006
Sir: Hereditary spastic paraplegia (SPG) is clinically heterogeneous with both pure and complicated forms. The complicated forms…Â
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2005
2005
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
Peter Hedera
,
O. P. Eldevik
,
Piotr I. Maly
,
Shirley R Rainier
,
John K. Fink
Neuroradiology
2005
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by…Â
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1992
1992
The Institute of Electrical and Electronics Engineers Incorporated
Mark Pfeiffer
IEEE Cement Industry Technical Conference,
1992
Wednesday, May 7, 2014 8:30 am Breakfast 9:00 am – 12 Noon General Session 9:00 am Meeting called to order Gary Touryan ï‚· Welcome…Â
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1988
1988
Efficacy of high-dose methotrexate in childhood acute lymphocytic leukemia: analysis by contemporary risk classifications.
Minnie Abromowitch
,
Judith Ochs
,
C. H. Pui
,
Diane Lynn Fairclough
,
Sean Murphy
,
Gonzalo Rivera
Blood
1988
High-dose methotrexate (HDMTX) added to a basic regimen of chemotherapy proved superior to cranial irradiation and sequentially…Â
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1988
1988
High-dose methotrexate improves clinical outcome in children with acute lymphoblastic leukemia: St. Jude Total Therapy Study X.
Minnie Abromowitch
,
Judith Ochs
,
+7 authors
William E. Evans
Medical and pediatric oncology
1988
High-dose methotrexate (HDMTX, 1,000 mg/m2) and cranial irradiation/sequential chemotherapy (RTSC) were compared for ability to…Â
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