Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients-Reference-Cited by-同舟云学术

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

Published:2011-04-05 Issue:3 Volume:12 Page:193-201
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Castellotti Barbara,Mariotti Caterina,Rimoldi Marco,Fancellu Roberto,Plumari Massimo,Caimi Sara,Uziel Graziella,Nardocci Nardo,Moroni Isabella,Zorzi Giovanna,Pareyson Davide,Di Bella Daniela,Di Donato Stefano,Taroni Franco,Gellera Cinzia

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-011-0281-x.pdf

Reference35 articles.

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3. Clements P, Breslin C, Deeks E, Byrd P, Ju L, Bieganowski P, Brenner C, Moreira M, Taylor A, Caldecott K (2004) The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. DNA Repair (Amst) 3:1493–1502

4. Cogan DG (1953) A type of congenital ocular motor apraxia presenting jerky head movements. Am J Ophthalmol 36:433–441

5. Criscuolo C, Mancini P, Saccà F, De Michele G, Monticelli A, Santoro L, Scarano V, Banfi S, Filla A (2004) Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. Neurology 63:2173–2175

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