| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Brent L Fogel, Ellen Cho, Amanda Wahnich, Fuying Gao, Olivier J Becherel, Xizhe Wang, Francesca Fike, Leslie Chen, Chiara Criscuolo, Giuseppe De Michele, Alessandro Filla, Abigail Collins, Angelika F Hahn, Richard A Gatti, Genevieve Konopka, Susan Perlman, Martin F Lavin, Daniel H Geschwind, Giovanni Coppol. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Human molecular genetics. vol 23. issue 18. 2015-04-23. PMID:24760770. |
mutations in setx cause the recessive disorder ataxia with oculomotor apraxia type 2 (aoa2) and a dominant juvenile form of amyotrophic lateral sclerosis (als4). |
2015-04-23 |
2023-08-13 |
mouse |
| Ricardo H Roda, Carlo Rinaldi, Rajat Singh, Alice B Schindler, Craig Blackston. Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 21. issue 9. 2015-04-08. PMID:24814856. |
ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative dna damage. |
2015-04-08 |
2023-08-13 |
Not clear |
| Ricardo H Roda, Carlo Rinaldi, Rajat Singh, Alice B Schindler, Craig Blackston. Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 21. issue 9. 2015-04-08. PMID:24814856. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive cerebellar ataxia associated with mutations in setx, which encodes the senataxin protein, a dna/rna helicase. |
2015-04-08 |
2023-08-13 |
Not clear |
| Chiara Vantaggiato, Orazio Cantoni, Andrea Guidarelli, Romina Romaniello, Andrea Citterio, Filippo Arrigoni, Chiara Doneda, Marianna Castelli, Giovanni Airoldi, Nereo Bresolin, Renato Borgatti, Maria Teresa Bass. Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. Brain & development. vol 36. issue 8. 2015-03-04. PMID:24183476. |
homozygous and compound heterozygous mutations in setx are associated with aoa2 disease, a recessive form of ataxia with oculomotor apraxia and neuropathy with onset of ataxia between the first and second decade of life. |
2015-03-04 |
2023-08-12 |
Not clear |
| Abrey J Yeo, Olivier J Becherel, John E Luff, Jason K Cullen, Thidathip Wongsurawat, Piroon Jenjaroenpun, Piroon Jenjaroenpoon, Vladimir A Kuznetsov, Peter J McKinnon, Martin F Lavi. R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias. PloS one. vol 9. issue 3. 2015-01-06. PMID:24637776. |
disruption of the setx gene, defective in ataxia oculomotor apraxia type 2 (aoa2) leads to the accumulation of dna/rna hybrids (r-loops), failure of meiotic recombination and infertility in mice. |
2015-01-06 |
2023-08-12 |
mouse |
| So Won Park, Yoon Young Yi, Jung Woo Han, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kan. Wernicke's encephalopathy in a child with high dose thiamine therapy. Korean journal of pediatrics. vol 57. issue 11. 2014-12-31. PMID:25550705. |
wernicke's encephalopathy is an acute neurological disorder characterized by mental confusion, oculomotor dysfunction, and ataxia. |
2014-12-31 |
2023-08-13 |
Not clear |
| Francisco Cardos. Differential diagnosis of Huntington's disease: what the clinician should know. Neurodegenerative disease management. vol 4. issue 1. 2014-11-25. PMID:24640980. |
there are also autosomal-recessive choreas that can be hd phenocopies: friedreich's ataxia, neuroacanthocytosis, several forms of neurodegeneration with brain iron accumulation, ataxia telangiectasia, hd-like 3 and ataxia with oculomotor apraxia. |
2014-11-25 |
2023-08-12 |
Not clear |
| Jeong-Yoon Choi, Young-Min Park, Yeon Sun Woo, Sung Un Kim, Jin-Man Jung, Do-Young Kwo. Perverted head-shaking and positional downbeat nystagmus in pregabalin intoxication. Journal of the neurological sciences. vol 337. issue 1-2. 2014-10-06. PMID:24368013. |
dizziness and ataxia are known adverse effects of pregabalin, but characteristic oculomotor signs in pregabalin intoxication have not been reported. |
2014-10-06 |
2023-08-12 |
Not clear |
| Che-Piao Shen, Wei-Yong Lin, Ting-Fang Lin, Wen-Fu Wang, Chon-Haw Tsai, Ban-Dar Hsu, Chih-Yang Huang, Hsin-Ping Liu, Fuu-Jen Tsa. Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan. The Chinese journal of physiology. vol 57. issue 2. 2014-09-18. PMID:24694197. |
mutations in human senataxin (setx), an ortholog yeast protein of sen1, have been identified to cause the syndrome of ataxia with oculomotor apraxia type 2 (aoa2) and juvenile amyotrophic lateral sclerosis (als4), two types of progressive motor neuron degeneration. |
2014-09-18 |
2023-08-13 |
human |
| Craig L Bennett, Yingzhang Chen, Marissa Vignali, Russell S Lo, Amanda G Mason, Asli Unal, Nabiha P Huq Saifee, Stanley Fields, Albert R La Spad. Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide. PloS one. vol 8. issue 11. 2014-08-18. PMID:24244371. |
senataxin is a large 303 kda protein linked to neuron survival, as recessive mutations cause ataxia with oculomotor apraxia type 2 (aoa2), and dominant mutations cause amyotrophic lateral sclerosis type 4 (als4). |
2014-08-18 |
2023-08-12 |
human |
| Stefan Kipfer, Simon Jung, Johannes R Lemke, Anna Kipfer-Kauer, Jeremy P Howell, Alain Kaelin-Lang, Thomas Nyffeler, Klemens Gutbrod, Angela Abicht, René M Mür. Novel CACNA1A mutation(s) associated with slow saccade velocities. Journal of neurology. vol 260. issue 12. 2014-08-06. PMID:24046065. |
beside the growing number of descriptions of novel cacna1a mutations with episodic ataxia type 2 phenotype; there are only rare reports on interictal oculomotor signs other than nystagmus. |
2014-08-06 |
2023-08-12 |
Not clear |
| Martin F Lavin, Abrey J Yeo, Olivier J Bechere. Senataxin protects the genome: Implications for neurodegeneration and other abnormalities. Rare diseases (Austin, Tex.). vol 1. 2014-07-08. PMID:25003001. |
ataxia oculomotor apraxia type 2 (aoa2) is a rare autosomal recessive disorder characterized by cerebellar atrophy, peripheral neuropathy, loss of purkinje cells and elevated α-fetoprotein. |
2014-07-08 |
2023-08-13 |
mouse |
| Marie Y Davis, C Dirk Keene, Phillip D Swanson, Conor Sheehy, Thomas D Bir. Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. Journal of the neurological sciences. vol 335. issue 1-2. 2014-07-07. PMID:24090759. |
ataxia telangiectasia (at) and ataxia oculomotor apraxia type 2 (aoa2) are autosomal recessive ataxias caused by mutations in genes involved in maintaining dna integrity. |
2014-07-07 |
2023-08-12 |
Not clear |
| Adrián Tóth, Gabriella Aradi, György Várallyay, Zsuzsanna Arányi, Dániel Bereczki, Ildikó Vastag. [Wernicke's encephalopathy induced by the use of diet pills and unbalanced diet]. Orvosi hetilap. vol 155. issue 12. 2014-05-22. PMID:24631935. |
authors report the case of a 23-year-old woman who developed oculomotor dysfunction, encephalopathy and ataxia as a result of an extreme diet and use of diet pills. |
2014-05-22 |
2023-08-12 |
Not clear |
| Kathleen Claes, Julie Depuydt, A Malcolm R Taylor, James I Last, Annelot Baert, Peter Schietecatte, Veerle Vandersickel, Bruce Poppe, Kim De Leeneer, Marc D'Hooghe, Anne Vra. Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. Neuromolecular medicine. vol 15. issue 3. 2014-04-15. PMID:23632773. |
our patient presented with mild dystonia, moderately dysarthric speech, increased serum α-fetoprotein but no ataxia nor telangiectasias, no nystagmus or oculomotor dyspraxia. |
2014-04-15 |
2023-08-12 |
Not clear |
| Zsuzsanna Soós, Mónika Salamon, Roland Oláh, Anna Czégeni, Ferenc Salamon, András Folyovich, Gábor Winkle. [Wernicke encephalopathy accompanying linitis plastica]. Orvosi hetilap. vol 155. issue 1. 2014-03-28. PMID:24379094. |
in the classical form it is characterized by a typical triad (confusion, oculomotor disturbance and ataxia), however, in the majority of the cases only confusion is present. |
2014-03-28 |
2023-08-12 |
human |
| Nicole I Wolf, Michel Koeni. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. Handbook of clinical neurology. vol 113. 2014-03-27. PMID:23622410. |
in several of the hereditary ataxias, the causative gene plays an important role in dna repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type i and ii. |
2014-03-27 |
2023-08-12 |
Not clear |
| Neil Datta, Anna Hohle. A new SETX mutation producing AOA2 in two siblings. The International journal of neuroscience. vol 123. issue 9. 2014-03-19. PMID:23566282. |
in this paper, we document two cases of a new setx mutation (820:a>g) combined with an established recessive setx mutation (5927:t>g) causing ataxia with oculomotor apraxia type 2 (aoa2). |
2014-03-19 |
2023-08-12 |
Not clear |
| Suman Jayadev, Thomas D Bir. Hereditary ataxias: overview. Genetics in medicine : official journal of the American College of Medical Genetics. vol 15. issue 9. 2014-03-10. PMID:23538602. |
autosomal recessive ataxias usually have onset in childhood; the most common subtypes are -friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1, and ataxia with oculomotor apraxia type 2. |
2014-03-10 |
2023-08-12 |
Not clear |
| 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. |
saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. |
2014-03-03 |
2023-08-12 |
human |