Literature DB >> 18202221

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

G Yoon, R Westmacott, L MacMillan, N Quercia, P Koutsou, A Georghiou, K Christodoulou, B Banwell.   

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Year:  2008        PMID： 18202221     DOI： 10.1136/jnnp.2007.127233

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  4 in total

1.  Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1.

Authors:  Martin Paucar; Isabel Alonso; Mats Eriksson; Stanislav Beniaminov; Paula Coutinho; Per Svenningsson
Journal:  Mov Disord Clin Pract       Date:  2014-12-10

2.  Aprataxin localizes to mitochondria and preserves mitochondrial function.

Authors:  Peter Sykora; Deborah L Croteau; Vilhelm A Bohr; David M Wilson
Journal:  Proc Natl Acad Sci U S A       Date:  2011-04-18       Impact factor: 11.205

3.  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

4.  Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

Authors:  Rick van Minkelen; Miriam Guitart; Conxita Escofet; Grace Yoon; Peter Elfferich; Galhana M Bolman; Robert van der Helm; Raoul van de Graaf; Ans M W van den Ouweland
Journal:  BMC Med Genet       Date:  2015-08-19       Impact factor: 2.103
  4 in total

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