| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
aoa are autosomal recessive ataxias with a common feature of oculomotor apraxia (oa) - inability to coordinate eye movements. |
2013-04-24 |
2023-08-12 |
Not clear |
| Monia Benhamed Hammer, Ghada El Euch-Fayache, Houda Nehdi, Dalel Saidi, Amira Nasri, Fatma Nabli, Yosr Bouhlal, Wieme Maamouri-Hicheri, Fayçal Hentati, Rim Amour. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. Diagnostic molecular pathology : the American journal of surgical pathology, part B. vol 21. issue 4. 2013-04-23. PMID:23111195. |
clinical and molecular findings of ataxia with oculomotor apraxia type 2 (aoa2) in 5 tunisian families. |
2013-04-23 |
2023-08-12 |
Not clear |
| Monia Benhamed Hammer, Ghada El Euch-Fayache, Houda Nehdi, Dalel Saidi, Amira Nasri, Fatma Nabli, Yosr Bouhlal, Wieme Maamouri-Hicheri, Fayçal Hentati, Rim Amour. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. Diagnostic molecular pathology : the American journal of surgical pathology, part B. vol 21. issue 4. 2013-04-23. PMID:23111195. |
ataxia with oculomotor apraxia type 2 (aoa2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the setx gene. |
2013-04-23 |
2023-08-12 |
Not clear |
| John J Reynolds, Grant S Stewar. A single strand that links multiple neuropathologies in human disease. Brain : a journal of neurology. vol 136. issue Pt 1. 2013-04-23. PMID:23365091. |
in particular, defects in the repair of dna single strand breaks, one of the most commonly occurring types of dna lesion, have been associated with three neuropathological diseases: ataxia oculomotor apraxia 1, spinocerebellar ataxia with neuronal neuropathy 1 and microcephaly, early-onset, intractable seizures and developmental delay. |
2013-04-23 |
2023-08-12 |
human |
| Özlem Yüce, Stephen C Wes. Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. Molecular and cellular biology. vol 33. issue 2. 2013-02-21. PMID:23149945. |
senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the dna damage response. |
2013-02-21 |
2023-08-12 |
human |
| Özlem Yüce, Stephen C Wes. Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. Molecular and cellular biology. vol 33. issue 2. 2013-02-21. PMID:23149945. |
the neurodegenerative disorder ataxia with oculomotor apraxia 2 (aoa-2) is caused by defects in senataxin, a putative rna/dna helicase thought to be involved in the termination of transcription at rna polymerase pause sites. |
2013-02-21 |
2023-08-12 |
human |
| Amaya Alzu, Rodrigo Bermejo, Martina Begnis, Chiara Lucca, Daniele Piccini, Walter Carotenuto, Marco Saponaro, Alessandra Brambati, Andrea Cocito, Marco Foiani, Giordano Liber. Senataxin associates with replication forks to protect fork integrity across RNA-polymerase-II-transcribed genes. Cell. vol 151. issue 4. 2013-01-16. PMID:23141540. |
our data, besides unmasking a key role for senataxin in coordinating replication with transcription, provide a framework for understanding the pathological mechanisms caused by senataxin deficiencies and leading to the severe neurodegenerative diseases ataxia with oculomotor apraxia type 2 and amyotrophic lateral sclerosis 4. |
2013-01-16 |
2023-08-12 |
Not clear |
| Heike Jacobi, Till-Karsten Hauser, Paola Giunti, Christoph Globas, Peter Bauer, Tanja Schmitz-Hübsch, László Baliko, Alessandro Filla, Caterina Mariotti, Maria Rakowicz, Perine Charles, Pascale Ribai, Sandra Szymanski, Jon Infante, Bart P C van de Warrenburg, Alexandra Dürr, Dagmar Timmann, Sylvia Boesch, Roberto Fancellu, Rafal Rola, Chantal Depondt, Ludger Schöls, Elzbieta Zdzienicka, Jun-Suk Kang, Susanne Ratzka, Berry Kremer, Dennis A Stephenson, Béla Melegh, Massimo Pandolfo, Sophie Tezenas du Montcel, Johannes Borkert, Jörg B Schulz, Thomas Klockgethe. Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum (London, England). vol 11. issue 1. 2012-12-04. PMID:21701895. |
to assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (scas), we analysed the baseline data of the eurosca natural history study, a multicentric cohort study of 526 patients with either spinocerebellar ataxia type 1, 2, 3 or 6. |
2012-12-04 |
2023-08-12 |
Not clear |
| E Chidlovskii, A Tahar, G Deschasse, P Couturie. [Wernicke's encephalopathy associated with pellagra encephalopathy: rare and unusual complication in an elderly woman hospitalized for aspiration pneumonia]. La Revue de medecine interne. vol 33. issue 8. 2012-11-29. PMID:22703872. |
wernicke's encephalopathy caused by thiamine deficiency is typically characterised by a mental-status change, oculomotor dysfunction and an ataxia. |
2012-11-29 |
2023-08-12 |
Not clear |
| A Awada, S Al Rajeh, O Bademosi, H Ismai. Pattern of degenerative ataxias in the eastern province of Saudi Arabia. Annals of Saudi medicine. vol 13. issue 2. 2012-10-02. PMID:17588019. |
uncommon types such as ataxia with hypogonadotropic hypogonadism and ataxia with oculomotor apraxia were encountered. |
2012-10-02 |
2023-08-12 |
Not clear |
| Peter Klivényi, Dezso Nemeth, Tamas Sefcsik, Karolina Janacsek, Ildiko Hoffmann, Gabor Peter Haden, Zsuzsa Londe, Laszlo Vecse. Cognitive functions in ataxia with oculomotor apraxia type 2. Frontiers in neurology. vol 3. 2012-10-02. PMID:23015802. |
cognitive functions in ataxia with oculomotor apraxia type 2. |
2012-10-02 |
2023-08-12 |
Not clear |
| Peter Klivényi, Dezso Nemeth, Tamas Sefcsik, Karolina Janacsek, Ildiko Hoffmann, Gabor Peter Haden, Zsuzsa Londe, Laszlo Vecse. Cognitive functions in ataxia with oculomotor apraxia type 2. Frontiers in neurology. vol 3. 2012-10-02. PMID:23015802. |
ataxia with oculomotor apraxia type 2 (aoa2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (afp) levels. |
2012-10-02 |
2023-08-12 |
Not clear |