| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Osamu Onoder. [Molecular mechanism for spinocerebellar ataxias]. Rinsho shinkeigaku = Clinical neurology. vol 49. issue 11. 2010-09-02. PMID:20030201. |
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. |
2010-09-02 |
2023-08-12 |
Not clear |
| Masayoshi Tada, Akio Yokoseki, Tatsuya Sato, Takao Makifuchi, Osamu Onoder. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. Advances in experimental medicine and biology. vol 685. 2010-08-20. PMID:20687492. |
early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. |
2010-08-20 |
2023-08-12 |
human |
| A Poretti, F Dietrich Alber, F Brancati, B Dallapiccola, E M Valente, E Boltshause. Normal cognitive functions in joubert syndrome. Neuropediatrics. vol 40. issue 6. 2010-08-12. PMID:20446224. |
we report on a 20-year-old woman with mild clinical signs of js (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (iq=93), verbal (iq=93), and performance intelligence quotient (iq=94). |
2010-08-12 |
2023-08-12 |
Not clear |
| Katsuya Nakamura, Kunihiro Yoshida, Hideo Makishita, Eiko Kitamura, Shiori Hashimoto, Shu-Ichi Iked. A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). Journal of human genetics. vol 54. issue 12. 2010-05-07. PMID:19893583. |
a novel nonsense mutation in a japanese family with ataxia with oculomotor apraxia type 2 (aoa2). |
2010-05-07 |
2023-08-12 |
Not clear |
| Katsuya Nakamura, Kunihiro Yoshida, Hideo Makishita, Eiko Kitamura, Shiori Hashimoto, Shu-Ichi Iked. A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). Journal of human genetics. vol 54. issue 12. 2010-05-07. PMID:19893583. |
we report a 67-year-old japanese woman with ataxia with oculomotor apraxia type 2 (aoa2). |
2010-05-07 |
2023-08-12 |
Not clear |
| Olivier J Becherel, Burkhard Jakob, Amy L Cherry, Nuri Gueven, Markus Fusser, Amanda W Kijas, Cheng Peng, Sachin Katyal, Peter J McKinnon, Junjie Chen, Bernd Epe, Stephen J Smerdon, Gisela Taucher-Scholz, Martin F Lavi. CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. Nucleic acids research. vol 38. issue 5. 2010-04-06. PMID:20008512. |
aprataxin, defective in the neurodegenerative disorder ataxia oculomotor apraxia type 1, resolves abortive dna ligation intermediates during dna repair. |
2010-04-06 |
2023-08-12 |
Not clear |
| M Anheim, M Fleury, B Monga, V Laugel, D Chaigne, G Rodier, E Ginglinger, C Boulay, S Courtois, N Drouot, M Fritsch, J P Delaunoy, D Stoppa-Lyonnet, C Tranchant, M Koeni. 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. Neurogenetics. vol 11. issue 1. 2010-03-22. PMID:19440741. |
a molecular diagnosis could be established for 57 patients; 36 were affected with frda, seven with ataxia plus oculomotor apraxia type 2 (aoa2), four with at, three with ataxia plus oculomotor apraxia type 1 (aoa1), three with marinesco-sjögren syndrome, two with autosomal recessive spastic ataxia of charlevoix-saguenay (arsacs), one with ataxia with vitamin e deficiency (aved) and one with autosomal recessive cerebellar ataxia type 2 (arca2). |
2010-03-22 |
2023-08-12 |
Not clear |
| Giovanni Airoldi, Andrea Guidarelli, Orazio Cantoni, Chris Panzeri, Chiara Vantaggiato, Sara Bonato, Maria Grazia D'Angelo, Sestina Falcone, Clara De Palma, Alessandra Tonelli, Claudia Crimella, Sara Bondioni, Nereo Bresolin, Emilio Clementi, Maria Teresa Bass. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. Neurogenetics. vol 11. issue 1. 2010-03-22. PMID:19593598. |
ataxia with oculomotor apraxia (aoa) type 2 (aoa2 mim 606002) is a recessive subtype of aoa characterized by cerebellar atrophy, oculomotor apraxia, early loss of reflexes, and peripheral neuropathy. |
2010-03-22 |
2023-08-12 |
Not clear |
| Janelle L Harris, Burkhard Jakob, Gisela Taucher-Scholz, Grigory L Dianov, Olivier J Becherel, Martin F Lavi. Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage. Human molecular genetics. vol 18. issue 21. 2010-02-22. PMID:19643912. |
aprataxin, defective in the neurodegenerative disorder ataxia oculomotor apraxia type 1 (aoa1), is a dna repair protein that processes the product of abortive ligations, 5' adenylated dna. |
2010-02-22 |
2023-08-12 |
Not clear |
| Brent L Fogel, Ji Yong Lee, Susan Perlma. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum (London, England). vol 8. issue 4. 2010-02-19. PMID:19727998. |
aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. |
2010-02-19 |
2023-08-12 |
Not clear |
| Brent L Fogel, Ji Yong Lee, Susan Perlma. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum (London, England). vol 8. issue 4. 2010-02-19. PMID:19727998. |
ataxia with oculomotor apraxia type 2 (aoa2) is caused by a diversity of mutations within the coding region of the senataxin gene. |
2010-02-19 |
2023-08-12 |
Not clear |
| M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J P Delaunoy, M Fritsch, L Arning, M Synofzik, L Schöls, J Sequeiros, C Goizet, C Marelli, I Le Ber, J Koht, J Gazulla, J De Bleecker, M Mukhtar, N Drouot, L Ali-Pacha, T Benhassine, M Chbicheb, A M'Zahem, A Hamri, B Chabrol, J Pouget, R Murphy, M Watanabe, P Coutinho, M Tazir, A Durr, A Brice, C Tranchant, M Koeni. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain : a journal of neurology. vol 132. issue Pt 10. 2010-02-03. PMID:19696032. |
ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. |
2010-02-03 |
2023-08-12 |
Not clear |
| M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J P Delaunoy, M Fritsch, L Arning, M Synofzik, L Schöls, J Sequeiros, C Goizet, C Marelli, I Le Ber, J Koht, J Gazulla, J De Bleecker, M Mukhtar, N Drouot, L Ali-Pacha, T Benhassine, M Chbicheb, A M'Zahem, A Hamri, B Chabrol, J Pouget, R Murphy, M Watanabe, P Coutinho, M Tazir, A Durr, A Brice, C Tranchant, M Koeni. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain : a journal of neurology. vol 132. issue Pt 10. 2010-02-03. PMID:19696032. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (afp) serum level. |
2010-02-03 |
2023-08-12 |
Not clear |
| Amila Suraweera, YiChieh Lim, Rick Woods, Geoff W Birrell, Talat Nasim, Olivier J Becherel, Martin F Lavi. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. Human molecular genetics. vol 18. issue 18. 2009-12-03. PMID:19515850. |
functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. |
2009-12-03 |
2023-08-12 |
Not clear |
| Amila Suraweera, YiChieh Lim, Rick Woods, Geoff W Birrell, Talat Nasim, Olivier J Becherel, Martin F Lavi. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. Human molecular genetics. vol 18. issue 18. 2009-12-03. PMID:19515850. |
ataxia oculomotor apraxia type 2 (aoa2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. |
2009-12-03 |
2023-08-12 |
Not clear |
| Tobias Haack, Douglas Friday, Andreas Bender, Arndt Rolfs, Thomas Klopstoc. Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. Journal of neurology. vol 256. issue 9. 2009-11-02. PMID:19377860. |
ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. |
2009-11-02 |
2023-08-12 |
Not clear |
| José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, Pedro Modrego, Michel Koeni. Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2. Muscle & nerve. vol 40. issue 3. 2009-10-06. PMID:19618424. |
sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2. |
2009-10-06 |
2023-08-12 |
Not clear |
| José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, Pedro Modrego, Michel Koeni. Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2. Muscle & nerve. vol 40. issue 3. 2009-10-06. PMID:19618424. |
two siblings with ataxia with oculomotor apraxia type 2 (aoa2) exhibited electrophysiological findings suggestive of a sensorimotor neuronopathy, and primary ovarian failure was detected in one of them. |
2009-10-06 |
2023-08-12 |
Not clear |
| John J Reynolds, Sherif F El-Khamisy, Keith W Caldecot. Short-patch single-strand break repair in ataxia oculomotor apraxia-1. Biochemical Society transactions. vol 37. issue Pt 3. 2009-09-29. PMID:19442253. |
short-patch single-strand break repair in ataxia oculomotor apraxia-1. |
2009-09-29 |
2023-08-12 |
Not clear |
| John J Reynolds, Sherif F El-Khamisy, Keith W Caldecot. Short-patch single-strand break repair in ataxia oculomotor apraxia-1. Biochemical Society transactions. vol 37. issue Pt 3. 2009-09-29. PMID:19442253. |
aoa1 (ataxia oculomotor apraxia-1) results from mutations in aprataxin, a component of dna strand break repair that removes amp from 5'-termini. |
2009-09-29 |
2023-08-12 |
Not clear |