Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

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

Text availability

Article attribute

Article type

Publication date

PubMed (OMIM) for id: 54840

36 results

Results by year

Filters applied: . Clear all
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