| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| A G Bassuk, Y Z Chen, S D Batish, N Nagan, P Opal, P F Chance, C L Bennet. In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. Neurogenetics. vol 8. issue 1. 2008-01-09. PMID:17096168. |
senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (aoa2) and (2) juvenile amyotrophic lateral sclerosis 4 (als4). |
2008-01-09 |
2023-08-12 |
Not clear |
| Moreno Ferrarini, Giovanna Squintani, Tiziana Cavallaro, Sergio Ferrari, Nicolo' Rizzuto, Gian Maria Fabriz. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. Journal of the neurological sciences. vol 260. issue 1-2. 2007-12-06. PMID:17572444. |
ataxia oculomotor apraxia type 1 (aoa1) is the most common form of autosomal recessive ataxia in japan, and the second in portugal after friedreich ataxia. |
2007-12-06 |
2023-08-12 |
Not clear |
| N Gueven, O J Becherel, O Howe, P Chen, J-F Haince, M-E Ouellet, G G Poirier, N Waterhouse, M Fusser, B Epe, J M de Murcia, G de Murcia, C H McGowan, R Parton, C Mothersill, P Grattan-Smith, M F Lavi. A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. Cell death and differentiation. vol 14. issue 6. 2007-11-27. PMID:17347666. |
a novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. |
2007-11-27 |
2023-08-12 |
Not clear |
| N Gueven, O J Becherel, O Howe, P Chen, J-F Haince, M-E Ouellet, G G Poirier, N Waterhouse, M Fusser, B Epe, J M de Murcia, G de Murcia, C H McGowan, R Parton, C Mothersill, P Grattan-Smith, M F Lavi. A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. Cell death and differentiation. vol 14. issue 6. 2007-11-27. PMID:17347666. |
several different autosomal recessive genetic disorders characterized by ataxia with oculomotor apraxia (aoa) have been identified with the unifying feature of defective dna damage recognition and/or repair. |
2007-11-27 |
2023-08-12 |
Not clear |
| Ulrich Rass, Ivan Ahel, Stephen C Wes. Defective DNA repair and neurodegenerative disease. Cell. vol 130. issue 6. 2007-11-01. PMID:17889645. |
this review focuses on studies defining the molecular defects associated with several human neurological disorders, particularly ataxia with oculomotor apraxia 1 (aoa1) and spinocerebellar ataxia with axonal neuropathy 1 (scan1). |
2007-11-01 |
2023-08-12 |
human |
| Amila Suraweera, Olivier J Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fusser, Bernd Epe, Nuri Gueven, Martin F Lavi. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. The Journal of cell biology. vol 177. issue 6. 2007-09-12. PMID:17562789. |
senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative dna damage. |
2007-09-12 |
2023-08-12 |
human |
| Amila Suraweera, Olivier J Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fusser, Bernd Epe, Nuri Gueven, Martin F Lavi. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. The Journal of cell biology. vol 177. issue 6. 2007-09-12. PMID:17562789. |
a defective response to dna damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxia-telangiectasia. |
2007-09-12 |
2023-08-12 |
human |
| Amila Suraweera, Olivier J Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fusser, Bernd Epe, Nuri Gueven, Martin F Lavi. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. The Journal of cell biology. vol 177. issue 6. 2007-09-12. PMID:17562789. |
we report that senataxin, defective in ataxia oculomotor apraxia (aoa) type 2, is a nuclear protein involved in the dna damage response. |
2007-09-12 |
2023-08-12 |
human |
| Makito Hirano, Hirohide Asai, Takao Kiriyama, Yoshiko Furiya, Takaaki Iwamoto, Tomohisa Nishiwaki, Aya Yamamoto, Toshio Mori, Satoshi Uen. Short half-lives of ataxia-associated aprataxin proteins in neuronal cells. Neuroscience letters. vol 419. issue 2. 2007-08-01. PMID:17485165. |
early-onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh)/ataxia with oculomotor apraxia type 1 (aoa1) is caused by mutations in the gene encoding aprataxin (aptx). |
2007-08-01 |
2023-08-12 |
Not clear |
| Tetsuya Takahashi, Masayoshi Tada, Shuichi Igarashi, Akihide Koyama, Hidetoshi Date, Akio Yokoseki, Atsushi Shiga, Yutaka Yoshida, Shoji Tsuji, Masatoyo Nishizawa, Osamu Onoder. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Nucleic acids research. vol 35. issue 11. 2007-07-27. PMID:17519253. |
aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (eaoh/aoa1), the clinical symptoms of which are predominantly neurological. |
2007-07-27 |
2023-08-12 |
human |
| C Eboué, C Carlier-Guérin, V de La Sayette, J-Y Grall, M Herlicovie. [A rare complication of vomiting in pregnancy: Wernicke's encephalopathy]. Journal de gynecologie, obstetrique et biologie de la reproduction. vol 35. issue 8 Pt 1. 2007-07-12. PMID:17151540. |
the diagnosis is clinical with the triad (found in 60% of cases) of mental confusion, oculomotor disorders and ataxia. |
2007-07-12 |
2023-08-12 |
Not clear |
| David M Wilson, Mark P Mattso. Neurodegeneration: nicked to death. Current biology : CB. vol 17. issue 2. 2007-07-02. PMID:17240329. |
ataxia oculomotor apraxia-1 is a neurological disorder that arises from mutations in the gene encoding the protein aprataxin. |
2007-07-02 |
2023-08-12 |
Not clear |
| Yasuhiko Baba, Ryan J Uitti, Kevin B Boylan, Yoshinari Uehara, Tatsuo Yamada, Matthew J Farrer, Elizabeth Couchon, Sat Dev Batish, Zbigniew K Wszole. Aprataxin (APTX) gene mutations resembling multiple system atrophy. Parkinsonism & related disorders. vol 13. issue 3. 2007-06-26. PMID:17049295. |
mutations of the aprataxin (aptx) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh), also called ataxia with oculomotor apraxia type 1. |
2007-06-26 |
2023-08-12 |
Not clear |
| N Gueven, P Chen, J Nakamura, O J Becherel, A W Kijas, P Grattan-Smith, M F Lavi. A subgroup of spinocerebellar ataxias defective in DNA damage responses. Neuroscience. vol 145. issue 4. 2007-06-22. PMID:17224243. |
a subgroup of human autosomal recessive ataxias is also characterized by disturbances of eye movement or oculomotor apraxia. |
2007-06-22 |
2023-08-12 |
human |
| N Gueven, P Chen, J Nakamura, O J Becherel, A W Kijas, P Grattan-Smith, M F Lavi. A subgroup of spinocerebellar ataxias defective in DNA damage responses. Neuroscience. vol 145. issue 4. 2007-06-22. PMID:17224243. |
these include ataxia telangiectasia (a-t); ataxia telangiectasia like disorder (atld); ataxia oculomotor apraxia type 1 (aoa1) and ataxia oculomotor apraxia type 2 (aoa2). |
2007-06-22 |
2023-08-12 |
human |
| Thomas Benk. Peduncular hallucinosis: a syndrome of impaired reality monitoring. Journal of neurology. vol 253. issue 12. 2007-06-13. PMID:17006630. |
frequent clinical symptoms were oculomotor disturbances, impaired arousal, dysarthria and ataxia. |
2007-06-13 |
2023-08-12 |
Not clear |
| Ulrich Rass, Ivan Ahel, Stephen C Wes. Actions of aprataxin in multiple DNA repair pathways. The Journal of biological chemistry. vol 282. issue 13. 2007-05-10. PMID:17276982. |
mutations in the aptx gene lead to a neurological disorder known as ataxia oculomotor apraxia-1. |
2007-05-10 |
2023-08-12 |
Not clear |
| Makito Hirano, Aya Yamamoto, Toshio Mori, Li Lan, Taka-aki Iwamoto, Masashi Aoki, Keiji Shimada, Yoshiko Furiya, Shingo Kariya, Hirohide Asai, Akira Yasui, Tomohisa Nishiwaki, Kyoko Imoto, Nobuhiko Kobayashi, Takao Kiriyama, Tetsuya Nagata, Noboru Konishi, Yasuto Itoyama, Satoshi Uen. DNA single-strand break repair is impaired in aprataxin-related ataxia. Annals of neurology. vol 61. issue 2. 2007-04-06. PMID:17315206. |
early-onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh)/ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal recessive form of cerebellar ataxia. |
2007-04-06 |
2023-08-12 |
Not clear |
| François Gros-Louis, Nicolas Dupré, Patrick Dion, Michael A Fox, Sandra Laurent, Steve Verreault, Joshua R Sanes, Jean-Pierre Bouchard, Guy A Roulea. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nature genetics. vol 39. issue 1. 2007-02-21. PMID:17159980. |
causative genes have been identified for a few autosomal recessive ataxias: friedreich's ataxia, ataxia with vitamin e deficiency, ataxia telangiectasia, recessive spastic ataxia of charlevoix-saguenay and ataxia with oculomotor apraxia type 1 (refs. |
2007-02-21 |
2023-08-12 |
Not clear |
| I Le Ber, O Dubourg, J-F Benoist, C Jardel, F Mochel, M Koenig, A Brice, A Lombès, A Dür. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology. vol 68. issue 4. 2007-02-21. PMID:17242337. |
muscle coenzyme q10 deficiencies in ataxia with oculomotor apraxia 1. |
2007-02-21 |
2023-08-12 |
Not clear |