| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Muriel Panouillères, Solène Frismand, Olivier Sillan, Christian Urquizar, Alain Vighetto, Denis Pélisson, Caroline Tiliket. Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. Cerebellum (London, England). vol 12. issue 4. 2014-03-03. PMID:23475383. |
ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent autosomal recessive cerebellar ataxias. |
2014-03-03 |
2023-08-12 |
human |
| Percy Tumbale, Jessica S Williams, Matthew J Schellenberg, Thomas A Kunkel, R Scott William. Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity. Nature. vol 506. issue 7486. 2014-02-18. PMID:24362567. |
this involves a-form rna binding, proper protein folding and conformational changes, all of which are affected by heritable aptx mutations in ataxia with oculomotor apraxia 1. |
2014-02-18 |
2023-08-12 |
human |
| Anne Noreau, Cynthia V Bourassa, Anna Szuto, Annie Levert, Sylvia Dobrzeniecka, Julie Gauthier, Sylvie Forlani, Alexandra Durr, Mathieu Anheim, Giovanni Stevanin, Alexis Brice, Jean-Pierre Bouchard, Patrick A Dion, Nicolas Dupré, Guy A Roulea. SYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA neurology. vol 70. issue 10. 2014-02-14. PMID:23959263. |
autosomal recessive cerebellar ataxia type i, also known as recessive ataxia of beauce, is a slowly progressive ataxia that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging. |
2014-02-14 |
2023-08-12 |
Not clear |
| Lorenzo Nanetti, Simona Cavalieri, Viviana Pensato, Alessandra Erbetta, Davide Pareyson, Marta Panzeri, Giovanna Zorzi, Carlo Antozzi, Isabella Moroni, Cinzia Gellera, Alfredo Brusco, Caterina Mariott. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet journal of rare diseases. vol 8. 2014-01-02. PMID:23941260. |
ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (a-t, atm gene), ataxia with oculomotor apraxia type 1 (aoa1, aptx gene) and type 2 (aoa2, setx gene). |
2014-01-02 |
2023-08-12 |
Not clear |
| Patricia Richard, Shuang Feng, James L Manle. A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage. Genes & development. vol 27. issue 20. 2013-12-13. PMID:24105744. |
senataxin (setx) is an rna/dna helicase implicated in transcription termination and the dna damage response and is mutated in two distinct neurological disorders: aoa2 (ataxia oculomotor apraxia 2) and als4 (amyotrophic lateral sclerosis 4). |
2013-12-13 |
2023-08-12 |
Not clear |
| M F Alexandre, S Rivaud-Péchoux, G Challe, A Durr, B Gaymar. Functional consequences of oculomotor disorders in hereditary cerebellar ataxias. Cerebellum (London, England). vol 12. issue 3. 2013-12-04. PMID:23239280. |
functional consequences of oculomotor disorders in hereditary cerebellar ataxias. |
2013-12-04 |
2023-08-12 |
human |
| Solène Frismand, Hannoun Salem, Muriel Panouilleres, Denis Pélisson, Stéphane Jacobs, Alain Vighetto, François Cotton, Caroline Tiliket. MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus. NeuroImage. Clinical. vol 2. 2013-11-01. PMID:24179805. |
ataxia with oculomotor apraxia type 2 (aoa2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. |
2013-11-01 |
2023-08-12 |
human |
| Solène Frismand, Hannoun Salem, Muriel Panouilleres, Denis Pélisson, Stéphane Jacobs, Alain Vighetto, François Cotton, Caroline Tiliket. MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus. NeuroImage. Clinical. vol 2. 2013-11-01. PMID:24179805. |
the percentage of atrophy was the highest for the vermis, consistent with patients' oculomotor presentation, and for the anterior lobe, consistent with kinetic limb ataxia. |
2013-11-01 |
2023-08-12 |
human |
| Solène Frismand, Hannoun Salem, Muriel Panouilleres, Denis Pélisson, Stéphane Jacobs, Alain Vighetto, François Cotton, Caroline Tiliket. MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus. NeuroImage. Clinical. vol 2. 2013-11-01. PMID:24179805. |
this study suggests that patients with ataxia with oculomotor apraxia type 2 present mri patterns consistent with their clinical presentation. |
2013-11-01 |
2023-08-12 |
human |
| Morten Scheibye-Knudsen, Karsten Scheibye-Alsing, Chandrika Canugovi, Deborah L Croteau, Vilhelm A Boh. A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging. Aging. vol 5. issue 3. 2013-10-01. PMID:23524341. |
as a proof of principle cockayne syndrome, ataxia with oculomotor apraxia 1 (aoa1), spinocerebellar ataxia with axonal neuropathy 1 (scan1) and ataxia-telangiectasia have recently been shown to have mitochondrial dysfunction and those diseases showed strong association with mitochondrial disorders. |
2013-10-01 |
2023-08-12 |
human |
| Nor Azian Abdul Murad, Jason K Cullen, Matthew McKenzie, Michael T Ryan, David Thorburn, Nuri Gueven, Junya Kobayashi, Geoff Birrell, Jian Yang, Thilo Dörk, Olivier Becherel, Padraic Grattan-Smith, Martin F Lavi. Mitochondrial dysfunction in a novel form of autosomal recessive ataxia. Mitochondrion. vol 13. issue 3. 2013-09-10. PMID:23178371. |
included in this group is a novel form of ataxia with oculomotor apraxia characterised by sensitivity to dna damaging agents, a defect in p53 stabilisation, oxidative stress and resistance to apoptosis. |
2013-09-10 |
2023-08-12 |
Not clear |
| Silvia Clausi, Maria De Luca, Francesca R Chiricozzi, Anna M Tedesco, Carlo Casali, Marco Molinari, Maria G Leggi. Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2. Cortex; a journal devoted to the study of the nervous system and behavior. vol 49. issue 3. 2013-09-09. PMID:22480402. |
ataxia with oculomotor apraxia type 2 is a rare and early-disabling neurodegenerative disease, part of a subgroup of autosomal recessive cerebellar ataxia, in which oculomotor symptoms (e.g., increased saccade latency and hypometria) and executive function deficits have been described. |
2013-09-09 |
2023-08-12 |
Not clear |
| Silvia Clausi, Maria De Luca, Francesca R Chiricozzi, Anna M Tedesco, Carlo Casali, Marco Molinari, Maria G Leggi. Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2. Cortex; a journal devoted to the study of the nervous system and behavior. vol 49. issue 3. 2013-09-09. PMID:22480402. |
the aim of this study was to evaluate the impact of oculomotor symptoms on cognitive performance and, in particular, over reading in 2 italian siblings affected by ataxia with oculomotor apraxia type 2. |
2013-09-09 |
2023-08-12 |
Not clear |
| Abdul Qayyum Rana, Osama A Khan, Raza Aktha. Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene. Annals of Indian Academy of Neurology. vol 16. issue 2. 2013-08-19. PMID:23956581. |
ataxia oculomotor apraxia type 1 (aoa1), an autosomal recessive ataxia, results from a mutation on the aprataxin gene (aptx). |
2013-08-19 |
2023-08-12 |
Not clear |
| Larissa Arning, Jörg T Epplen, Elisa Rahikkala, Corinna Hendrich, Albert C Ludolph, Anne-Dorte Sperfel. The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases. Neurogenetics. vol 14. issue 1. 2013-08-05. PMID:23129421. |
mutations in the senataxin (setx) gene can cause amyotrophic lateral sclerosis 4 (als4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. |
2013-08-05 |
2023-08-12 |
Not clear |
| Olivier J Becherel, Abrey J Yeo, Alissa Stellati, Evelyn Y H Heng, John Luff, Amila M Suraweera, Rick Woods, Jean Fleming, Dianne Carrie, Kristine McKinney, Xiaoling Xu, Chuxia Deng, Martin F Lavi. Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing. PLoS genetics. vol 9. issue 4. 2013-06-25. PMID:23593030. |
senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (aoa2), plays an important role in maintaining genome integrity by coordination of transcription, dna replication, and the dna damage response. |
2013-06-25 |
2023-08-12 |
human |
| Nayereh Nouri, Narges Nouri, Omid Aryani, Behnam Kamalidehghan, Maryam Sedghi, Massoud Houshman. A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease. Iranian biomedical journal. vol 16. issue 4. 2013-06-21. PMID:23183622. |
a novel mutation in the aprataxin (aptx) gene in an iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(aoa1) disease. |
2013-06-21 |
2023-08-12 |
Not clear |
| Nayereh Nouri, Narges Nouri, Omid Aryani, Behnam Kamalidehghan, Maryam Sedghi, Massoud Houshman. A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease. Iranian biomedical journal. vol 16. issue 4. 2013-06-21. PMID:23183622. |
ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. |
2013-06-21 |
2023-08-12 |
Not clear |
| Rithwick Rajagopal, Randall Bateman, Gregory P Van Staver. Visual involvement in corticobasal syndrome. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. vol 32. issue 4. 2013-05-17. PMID:21926916. |
visual findings primarily manifest as oculomotor apraxia, but significant cognitive impairment may result in the inability to process visuospatial information and can result in simultagnosia and visuomotor ataxia. |
2013-05-17 |
2023-08-12 |
Not clear |
| G E Rudenskaia, M V Kurkina, E Iu Zakharov. [Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 112. issue 10. 2013-04-24. PMID:23250602. |
[ataxia with oculomotor apraxia: clinical-genetic characteristics and dna-diagnostic]. |
2013-04-24 |
2023-08-12 |
Not clear |