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SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1

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

Papers overview

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Review
2018
Review
2018
An estimated 105 DNA lesions occur daily in the mammalian genome as a consequence of spontaneous decay, replication errors, and… Expand
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Highly Cited
2013
Highly Cited
2013
Senataxin (SETX) is an RNA/DNA helicase implicated in transcription termination and the DNA damage response and is mutated in two… Expand
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Highly Cited
2012
Highly Cited
2012
BACKGROUND The newly developed i-SCAN application can theoretically maximize the effectiveness of colonoscopy. However, the… Expand
Highly Cited
2009
Highly Cited
2009
While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal… Expand
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Highly Cited
2009
Highly Cited
2009
Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia… Expand
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Review
2006
Review
2006
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and… Expand
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Highly Cited
2004
Highly Cited
2004
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative… Expand
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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… Expand
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Highly Cited
2001
Highly Cited
2001
Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late… Expand
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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… Expand
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