SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1

Known as: Ataxia with Oculomotor Apraxia, Ataxia-ocular apraxia 2, SCAN2 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1998-2018
01219982018

Papers overview

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2013
2013
Senataxin (SETX) is an RNA/DNA helicase implicated in transcription termination and the DNA damage response and is mutated in two… (More)
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2012
2012
BACKGROUND The newly developed i-SCAN application can theoretically maximize the effectiveness of colonoscopy. However, the… (More)
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2009
2009
Ataxia with oculomotor apraxia (AOA) type 2 (AOA2 MIM 606002) is a recessive subtype of AOA characterized by cerebellar atrophy… (More)
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2008
2008
The ARP2/3 complex, a highly conserved nucleator of F-actin polymerization, and its activator, the SCAR complex, have been shown… (More)
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Highly Cited
2007
Highly Cited
2007
A defective response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including… (More)
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2006
2006
The Arp2/3 complex, a highly conserved nucleator of F-actin polymerization, is essential for a variety of eukaryotic cellular… (More)
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2003
2003
The Wiskott-Aldrich Syndrome (WAS) is a disease associated with mutations in the WAS gene and characterised by developmental… (More)
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Highly Cited
2001
Highly Cited
2001
Friedreich ataxia (FRDA), the most common autosomal recessive neurodegenerative disease among Europeans and people of European… (More)
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2001
2001
Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND The actin-related proteins Arp2 and Arp3 are part of a seven-protein complex which is localized in the lamellipodia of… (More)
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