Literature DB >> 17159128

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

Brent L Fogel1, Susan Perlman.   

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Year:  2006        PMID： 17159128     DOI： 10.1212/01.wnl.0000247661.19601.28

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  29 in total

Review 1.  [Clinical details and genetics of recessive ataxias].

Authors:  C Zühlke; F Kreuz; K Bürk
Journal:  Nervenarzt       Date:  2011-04       Impact factor: 1.214

Review 2.  RNA processing pathways in amyotrophic lateral sclerosis.

Authors:  Marka van Blitterswijk; John E Landers
Journal:  Neurogenetics       Date:  2010-03-27       Impact factor: 2.660

3.  Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Authors:  Brent L Fogel; Ji Yong Lee; Jessica Lane; Amanda Wahnich; Sandy Chan; Alden Huang; Greg E Osborn; Eric Klein; Catherine Mamah; Susan Perlman; Daniel H Geschwind; Giovanni Coppola
Journal:  Mov Disord       Date:  2012-01-27       Impact factor: 10.338

4.  Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Authors:  Brent L Fogel; Ellen Cho; Amanda Wahnich; Fuying Gao; Olivier J Becherel; Xizhe Wang; Francesca Fike; Leslie Chen; Chiara Criscuolo; Giuseppe De Michele; Alessandro Filla; Abigail Collins; Angelika F Hahn; Richard A Gatti; Genevieve Konopka; Susan Perlman; Martin F Lavin; Daniel H Geschwind; Giovanni Coppola
Journal:  Hum Mol Genet       Date:  2014-04-23       Impact factor: 6.150

5.  Interpretation of genetic testing: variants of unknown significance.

Authors:  Brent L Fogel
Journal:  Continuum (Minneap Minn)       Date:  2011-04

6.  Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.

Authors:  Ricardo H Roda; Carlo Rinaldi; Rajat Singh; Alice B Schindler; Craig Blackstone
Journal:  J Clin Neurosci       Date:  2014-05-06       Impact factor: 1.961

Review 7.  DNA repair deficiency and neurological disease.

Authors:  Peter J McKinnon
Journal:  Nat Rev Neurosci       Date:  2009-01-15       Impact factor: 34.870

8.  Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).

Authors:  Larissa Arning; Ludger Schöls; Huriye Cin; Manfred Souquet; Jörg T Epplen; Dagmar Timmann
Journal:  Neurogenetics       Date:  2008-07-29       Impact factor: 2.660

9.  Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.

Authors:  Saeed A Bohlega; Jameela M Shinwari; Latifa J Al Sharif; Dania S Khalil; Thamer S Alkhairallah; Nada A Al Tassan
Journal:  BMC Med Genet       Date:  2011-02-16       Impact factor: 2.103

10.  Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.

Authors:  Brent L Fogel; Ji Yong Lee; Susan Perlman
Journal:  Cerebellum       Date:  2009-12       Impact factor: 3.847
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