| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Brent L Fogel, Susan Perlma. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology. vol 67. issue 11. 2007-01-08. PMID:17159128. |
novel mutations in the senataxin dna/rna helicase domain in ataxia with oculomotor apraxia 2. |
2007-01-08 |
2023-08-12 |
Not clear |
| Andrew S Gurwood, Jenni Drak. Guillain-Barré syndrome. Optometry (St. Louis, Mo.). vol 77. issue 11. 2007-01-04. PMID:17145565. |
the miller fisher variant of gbs is a distinct syndrome in which the only neurologic deficits are oculomotor palsies, areflexia, and ataxia. |
2007-01-04 |
2023-08-12 |
Not clear |
| Ivan Ahel, Ulrich Rass, Sherif F El-Khamisy, Sachin Katyal, Paula M Clements, Peter J McKinnon, Keith W Caldecott, Stephen C Wes. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature. vol 443. issue 7112. 2006-11-09. PMID:16964241. |
ataxia oculomotor apraxia-1 (aoa1) is a neurological disorder caused by mutations in the gene (aptx) encoding aprataxin. |
2006-11-09 |
2023-08-12 |
mouse |
| Osamu Onoder. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 26. issue 4. 2006-10-25. PMID:16961074. |
at least four disorders, ataxia telangiectasia (at), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh)/ ataxia with oculomotor apraxia type 1 (aoa1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (oma), which is an impairment of saccadic eye movement initiation. |
2006-10-25 |
2023-08-12 |
Not clear |
| Olivier J Becherel, Nuri Gueven, Geoff W Birrell, Valérie Schreiber, Amila Suraweera, Burkhard Jakob, Gisela Taucher-Scholz, Martin F Lavi. Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. Human molecular genetics. vol 15. issue 14. 2006-09-08. PMID:16777843. |
the aptx gene, mutated in patients with the neurological disorder ataxia with oculomotor apraxia type 1 (aoa1), encodes a novel protein aprataxin. |
2006-09-08 |
2023-08-12 |
Not clear |
| Amanda W Kijas, Janelle L Harris, Jonathan M Harris, Martin F Lavi. Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. The Journal of biological chemistry. vol 281. issue 20. 2006-07-21. PMID:16547001. |
ataxia with oculomotor apraxia type 1 (aoa1) is an early onset autosomal recessive spinocerebellar ataxia with a defect in the protein aprataxin, implicated in the response of cells to dna damage. |
2006-07-21 |
2023-08-12 |
Not clear |
| Amre Shahwan, Philip J Byrd, A Malcolm R Taylor, Therese Nestor, Stephanie Ryan, Mary D Kin. Atypical presentation of ataxia-oculomotor apraxia type 1. Developmental medicine and child neurology. vol 48. issue 6. 2006-07-06. PMID:16700949. |
a subgroup of autosomal recessive cerebellar ataxias (arcas) associated with oculomotor apraxia (oma) and other variable features has been reported. |
2006-07-06 |
2023-08-12 |
Not clear |
| C Criscuolo, L Chessa, S Di Giandomenico, P Mancini, F Saccà, G S Grieco, M Piane, F Barbieri, G De Michele, S Banfi, F Pierelli, N Rizzuto, F M Santorelli, L Gallosti, A Filla, C Casal. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology. vol 66. issue 8. 2006-06-05. PMID:16636238. |
ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. |
2006-06-05 |
2023-08-12 |
Not clear |