| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Veronica Bernard, Martina Minnerop, Katrin Bürk, Friedmar Kreuz, Gabriele Gillessen-Kaesbach, Christine Zühlk. Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. BMC medical genetics. vol 10. 2009-09-24. PMID:19744353. |
exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. |
2009-09-24 |
2023-08-12 |
Not clear |
| Veronica Bernard, Martina Minnerop, Katrin Bürk, Friedmar Kreuz, Gabriele Gillessen-Kaesbach, Christine Zühlk. Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. BMC medical genetics. vol 10. 2009-09-24. PMID:19744353. |
the autosomal recessively inherited ataxia with oculomotor apraxia 2 (aoa2) is a neurodegenerative disorder characterized by juvenile or adolescent age of onset, gait ataxia, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum afp levels. |
2009-09-24 |
2023-08-12 |
Not clear |
| Francesc Palau, Carmen Espinó. Autosomal recessive cerebellar ataxias. Orphanet journal of rare diseases. vol 1. 2009-09-22. PMID:17112370. |
these diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin e deficiency (aved), aprataxin in ataxia with oculomotor apraxia (aoa1), and senataxin in ataxia with oculomotor apraxia (aoa2). |
2009-09-22 |
2023-08-12 |
Not clear |
| Josef Finstere. Ataxias with autosomal, X-chromosomal or maternal inheritance. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. vol 36. issue 4. 2009-09-01. PMID:19650351. |
the autosomal recessive ataxias are separated into friedreich ataxia, ataxia due to vitamin e deficiency, ataxia due to abeta-lipoproteinemia, refsum disease, late-onset tay-sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia 1 and 2, spastic ataxia of charlevoix-saguenay, cayman ataxia, marinesco-sjögren syndrome, and autosomal recessive mitochondrial ataxias (ar-cpeo, sando, scae, ahs, iosca, memsa, lbsl coq-deficiency, pdc-deficiency). |
2009-09-01 |
2023-08-12 |
Not clear |
| V Bernard, S Stricker, F Kreuz, M Minnerop, G Gillessen-Kaesbach, C Zühlk. Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. Neuropediatrics. vol 39. issue 6. 2009-08-13. PMID:19569000. |
ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. |
2009-08-13 |
2023-08-12 |
Not clear |
| V Bernard, S Stricker, F Kreuz, M Minnerop, G Gillessen-Kaesbach, C Zühlk. Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. Neuropediatrics. vol 39. issue 6. 2009-08-13. PMID:19569000. |
ataxia with oculomotor apraxia type 2 (aoa2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the senataxin gene ( setx). |
2009-08-13 |
2023-08-12 |
Not clear |
| Sherif F El-Khamisy, Sachin Katyal, Poorvi Patel, Limei Ju, Peter J McKinnon, Keith W Caldecot. Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin. DNA repair. vol 8. issue 6. 2009-08-06. PMID:19303373. |
ataxia oculomotor apraxia-1 (aoa1) is an autosomal recessive neurodegenerative disease that results from mutations of aprataxin (aptx). |
2009-08-06 |
2023-08-12 |
mouse |
| Sascha Hering, Clemens Achmüller, Andrea Köhler, Werner Poewe, Raine Schneider, Sylvia M Boesc. Phenotype variability in spinocerebellar ataxia type 2: a longitudinal family survey and a case featuring an unusual benign course of disease. Movement disorders : official journal of the Movement Disorder Society. vol 24. issue 5. 2009-07-28. PMID:19224595. |
although all sca2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the scale for the assessment and rating of ataxia after a disease duration of 13 years. |
2009-07-28 |
2023-08-12 |
Not clear |
| D Timmann, B Brandauer, J Hermsdörfer, W Ilg, J Konczak, M Gerwig, E R Gizewski, B Schoc. Lesion-symptom mapping of the human cerebellum. Cerebellum (London, England). vol 7. issue 4. 2009-05-18. PMID:18949530. |
one example are correlations with clinical data which are in good accordance with the known functional compartmentalisation of the cerebellum in three sagittal zones: in patients with cerebellar cortical degeneration ataxia of stance and gait was correlated with atrophy of the medial (and intermediate) cerebellum, oculomotor disorders with the medial, dysarthria with the intermediate and limb ataxia with atrophy of the intermediate and lateral cerebellum. |
2009-05-18 |
2023-08-12 |
human |
| M Tazir, L Ali-Pacha, A M'Zahem, J P Delaunoy, M Fritsch, S Nouioua, T Benhassine, S Assami, D Grid, J M Vallat, A Hamri, M Koeni. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. Journal of the neurological sciences. vol 278. issue 1-2. 2009-05-04. PMID:19141356. |
ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. |
2009-05-04 |
2023-08-12 |
Not clear |
| Osamu Onoder. [Molecular mechanism for spinocerebellar ataxias]. Rinsho shinkeigaku = Clinical neurology. vol 49. issue 1. 2009-04-07. PMID:19227889. |
we have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (eaoh/aoa1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at dna 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends. |
2009-04-07 |
2023-08-12 |
Not clear |
| b' A F Ciss\\xc3\\xa9, N Camara, L L Diallo, Y Morel, S Kon\\xc3\\xa9, M I Camara, M L Koumbassa, D Tafsir, D Soumah, B S Djigu\\xc3\\xa9, O B Camara, M Barry, S A Bangoura, S Kourouma, L Da Silva, A Ciss\\xc3\\xa. [Gayet-Wernicke\'s encephalopathy. A study of 13 cases observed in a refugee population hospitalized at the Conakry Teaching Hospital]. Bulletin de la Societe de pathologie exotique (1990). vol 101. issue 5. 2009-03-24. PMID:19192610.' |
11 presented the classical triad: oculomotor signs, cerebral ataxia and state of confusion and in 2 patients, only 2 symptoms were noted. |
2009-03-24 |
2023-08-12 |
Not clear |
| 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 |