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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1992 1
1994 1
1995 1
1998 2
2000 3
2001 7
2002 2
2003 1
2004 6
2005 3
2006 2
2007 2
2009 2
2010 1
2011 1
2013 1
2014 1
2015 1
2024 0

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PubMed (OMIM) for id: 54840

36 results

Results by year

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Page 1
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C. Castellotti B, et al. Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5. Neurogenetics. 2011. PMID: 21465257
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M. Anheim M, et al. Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14. Neurogenetics. 2010. PMID: 19440741
DNA single-strand break repair is impaired in aprataxin-related ataxia.
Hirano M, Yamamoto A, Mori T, Lan L, Iwamoto TA, Aoki M, Shimada K, Furiya Y, Kariya S, Asai H, Yasui A, Nishiwaki T, Imoto K, Kobayashi N, Kiriyama T, Nagata T, Konishi N, Itoyama Y, Ueno S. Hirano M, et al. Ann Neurol. 2007 Feb;61(2):162-74. doi: 10.1002/ana.21078. Ann Neurol. 2007. PMID: 17315206
Very late onset in ataxia oculomotor apraxia type I.
Criscuolo C, Mancini P, Menchise V, Saccà F, De Michele G, Banfi S, Filla A. Criscuolo C, et al. Ann Neurol. 2005 May;57(5):777. doi: 10.1002/ana.20463. Ann Neurol. 2005. PMID: 15852392 Free article. No abstract available.
36 results