| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| John J Reynolds, Sherif F El-Khamisy, Sachin Katyal, Paula Clements, Peter J McKinnon, Keith W Caldecot. Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1. Molecular and cellular biology. vol 29. issue 5. 2009-03-10. PMID:19103743. |
defective dna ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1. |
2009-03-10 |
2023-08-12 |
mouse |
| John J Reynolds, Sherif F El-Khamisy, Sachin Katyal, Paula Clements, Peter J McKinnon, Keith W Caldecot. Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1. Molecular and cellular biology. vol 29. issue 5. 2009-03-10. PMID:19103743. |
ataxia oculomotor apraxia 1 (aoa1) results from mutations in aprataxin, a component of dna strand break repair that removes amp from 5' termini. |
2009-03-10 |
2023-08-12 |
mouse |
| Wei Liu, Vinodh Narayana. Ataxia with oculomotor apraxia. Seminars in pediatric neurology. vol 15. issue 4. 2009-02-19. PMID:19073331. |
ataxia with oculomotor apraxia. |
2009-02-19 |
2023-08-12 |
Not clear |
| Wei Liu, Vinodh Narayana. Ataxia with oculomotor apraxia. Seminars in pediatric neurology. vol 15. issue 4. 2009-02-19. PMID:19073331. |
ataxia-telangiectasia (at) belongs to a group of recessively inherited disorders characterized by progressive ataxia and oculomotor apraxia. |
2009-02-19 |
2023-08-12 |
Not clear |
| Wei Liu, Vinodh Narayana. Ataxia with oculomotor apraxia. Seminars in pediatric neurology. vol 15. issue 4. 2009-02-19. PMID:19073331. |
included in this group are at, ataxia-telangiectasia-like disorder (atld), ataxia with oculomotor apraxia type 1 (aoa 1), ataxia with oculomotor apraxia type 2 (aoa 2), and the recently described aoa3. |
2009-02-19 |
2023-08-12 |
Not clear |
| Wei Liu, Vinodh Narayana. Ataxia with oculomotor apraxia. Seminars in pediatric neurology. vol 15. issue 4. 2009-02-19. PMID:19073331. |
we designate this condition as aoa-wm to call attention to the central demyelination seen in this variety of ataxia with oculomotor apraxia. |
2009-02-19 |
2023-08-12 |
Not clear |
| Ulrich Rass, Ivan Ahel, Stephen C Wes. Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin. The Journal of biological chemistry. vol 283. issue 49. 2009-02-04. PMID:18836178. |
the human neurological disease known as ataxia with oculomotor apraxia 1 is caused by mutations in the aptx gene that encodes aprataxin (aptx) protein. |
2009-02-04 |
2023-08-12 |
human |
| Stefano D'Arrigo, Daria Riva, Sara Bulgheroni, Luisa Chiapparini, Barbara Castellotti, Cinzia Gellera, Chiara Pantaleon. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. Journal of child neurology. vol 23. issue 8. 2008-10-17. PMID:18403580. |
ataxia with oculomotor apraxia type 1 (aoa1): clinical and neuropsychological features in 2 new patients and differential diagnosis. |
2008-10-17 |
2023-08-12 |
Not clear |
| Stefano D'Arrigo, Daria Riva, Sara Bulgheroni, Luisa Chiapparini, Barbara Castellotti, Cinzia Gellera, Chiara Pantaleon. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. Journal of child neurology. vol 23. issue 8. 2008-10-17. PMID:18403580. |
ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. |
2008-10-17 |
2023-08-12 |
Not clear |
| Mathieu Anheim, Marie-Celine Fleury, Jerome Franques, Maria-Ceu Moreira, Jean-Pierre Delaunoy, Dominique Stoppa-Lyonnet, Michel Koenig, Christine Tranchan. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Archives of neurology. vol 65. issue 7. 2008-08-04. PMID:18625865. |
clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. |
2008-08-04 |
2023-08-12 |
Not clear |
| Mathieu Anheim, Marie-Celine Fleury, Jerome Franques, Maria-Ceu Moreira, Jean-Pierre Delaunoy, Dominique Stoppa-Lyonnet, Michel Koenig, Christine Tranchan. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Archives of neurology. vol 65. issue 7. 2008-08-04. PMID:18625865. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive disease caused by setx mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated alpha-fetoprotein (afp) serum level, and occasional oculomotor apraxia. |
2008-08-04 |
2023-08-12 |
Not clear |
| Paola Porcedda, Valentina Turinetto, Alfredo Brusco, Simona Cavalieri, Erica Lantelme, Luca Orlando, Umberto Ricardi, Antonio Amoroso, Dario Gregori, Claudia Giachin. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry. Part A : the journal of the International Society for Analytical Cytology. vol 73. issue 6. 2008-07-15. PMID:18431795. |
to further evaluate the specificity and sensitivity of the test, we analyzed cells from 19 patients suspected of having a-t, and from one friedreich ataxia, one ataxia with oculomotor apraxia type 2, and one nijmegen breakage syndrome patients. |
2008-07-15 |
2023-08-12 |
Not clear |
| Paola Porcedda, Valentina Turinetto, Alfredo Brusco, Simona Cavalieri, Erica Lantelme, Luca Orlando, Umberto Ricardi, Antonio Amoroso, Dario Gregori, Claudia Giachin. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry. Part A : the journal of the International Society for Analytical Cytology. vol 73. issue 6. 2008-07-15. PMID:18431795. |
the friedreich ataxia patient, the ataxia with oculomotor apraxia type 2 patient and the nijmegen breakage syndrome patient were classified as non-a-t. |
2008-07-15 |
2023-08-12 |
Not clear |
| Elena Salvatore, Andrea Varrone, Chiara Criscuolo, Pietro Mancini, Valeria Sansone, Caterina Strisciuglio, Domenico Cicala, Valencia Scarano, Marco Salvatore, Sabina Pappatà, Giuseppe De Michele, Alessandro Fill. Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. Journal of neurology. vol 255. issue 1. 2008-05-14. PMID:18004640. |
nigrostriatal involvement in ataxia with oculomotor apraxia type 1. |
2008-05-14 |
2023-08-12 |
human |
| Elena Salvatore, Andrea Varrone, Chiara Criscuolo, Pietro Mancini, Valeria Sansone, Caterina Strisciuglio, Domenico Cicala, Valencia Scarano, Marco Salvatore, Sabina Pappatà, Giuseppe De Michele, Alessandro Fill. Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. Journal of neurology. vol 255. issue 1. 2008-05-14. PMID:18004640. |
ataxia with oculomotor apraxia type 1 (aoa1) is a rare autosomal recessive neurodegenerative disease, recently associated with mutations in the aprataxin gene. |
2008-05-14 |
2023-08-12 |
human |
| Paschalis Nicolaou, Anthi Georghiou, Christina Votsi, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Kyproula Christodoulo. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. BMC medical genetics. vol 9. 2008-04-25. PMID:18405395. |
senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of ataxia (arca), termed as ataxia with oculomotor apraxia, type 2 (aoa2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (afp). |
2008-04-25 |
2023-08-12 |
Not clear |
| M S Zaki, A Abdel-Aleem, G Abdel-Salam, S E Marsh, J L Silhavy, A J Barkovich, M E Ross, S N Saleem, W B Dobyns, J G Gleeso. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. vol 70. issue 7. 2008-03-06. PMID:18268248. |
joubert syndrome and related cerebellar disorders (jsrd) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. |
2008-03-06 |
2023-08-12 |
Not clear |
| G Yoon, R Westmacott, L MacMillan, N Quercia, P Koutsou, A Georghiou, K Christodoulou, B Banwel. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. Journal of neurology, neurosurgery, and psychiatry. vol 79. issue 2. 2008-02-06. PMID:18202221. |
complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. |
2008-02-06 |
2023-08-12 |
Not clear |
| David R Lynch, Corey D Braastad, Narasimhan Naga. Ovarian failure in ataxia with oculomotor apraxia type 2. American journal of medical genetics. Part A. vol 143A. issue 15. 2008-01-16. PMID:17593543. |
ovarian failure in ataxia with oculomotor apraxia type 2. |
2008-01-16 |
2023-08-12 |
Not clear |
| David R Lynch, Corey D Braastad, Narasimhan Naga. Ovarian failure in ataxia with oculomotor apraxia type 2. American journal of medical genetics. Part A. vol 143A. issue 15. 2008-01-16. PMID:17593543. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive disorder associated with mutations in the senataxin (setx) gene. |
2008-01-16 |
2023-08-12 |
Not clear |