| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Andrea De Amicis, Maria Piane, Francesca Ferrari, Maurizio Fanciulli, Domenico Delia, Luciana Chess. Role of senataxin in DNA damage and telomeric stability. DNA repair. vol 10. issue 2. 2011-05-02. PMID:21112256. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. |
2011-05-02 |
2023-08-12 |
Not clear |
| D H'mida-Ben Brahim, A M'zahem, M Assoum, Y Bouhlal, F Fattori, M Anheim, L Ali-Pacha, F Ferrat, M Chaouch, C Lagier-Tourenne, N Drouot, C Thibaut, T Benhassine, Y Sifi, D Stoppa-Lyonnet, K N'Guyen, J Poujet, A Hamri, F Hentati, R Amouri, F M Santorelli, M Tazir, M Koeni. Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. Journal of neurology. vol 258. issue 1. 2011-04-25. PMID:20798953. |
we identified six families homozygous for regions containing the autosomal recessive spastic ataxia of charlevoix-saguenay (arsacs) gene, two families homozygous for the ataxia-telangiectasia gene (atm), two families homozygous for the ataxia with oculomotor apraxia type 1 (aoa1) gene, and one family homozygous for the aoa type 2 (aoa2) gene. |
2011-04-25 |
2023-08-12 |
Not clear |
| M Schabe. [Miller-Fisher syndrome and the spectrum of oculomotor palsies with anti-GQ1b antibodies]. Klinische Monatsblatter fur Augenheilkunde. vol 227. issue 11. 2011-04-25. PMID:21077017. |
the author reports his experience with his own case of miller-fisher syndrome (mfs) and discusses the spectrum of gq 1b-positive oculomotor nerve diseases, including mfs, bickerstaff's brainstem encephalitis, guillain-barré syndrome, ophthalmoplegia without ataxia and isolated oculomotor palsies. |
2011-04-25 |
2023-08-12 |
Not clear |
| José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, Carlos Tordesillas, Pedro Modrego, Isabel Alonso, Jorge Pinto-Bast. Sensory neuronopathy in ataxia with oculomotor apraxia type 2. Journal of the neurological sciences. vol 298. issue 1-2. 2011-01-28. PMID:20869730. |
sensory neuronopathy in ataxia with oculomotor apraxia type 2. |
2011-01-28 |
2023-08-12 |
Not clear |
| José Gazulla, Isabel Benavente, Isabel Pérez López-Fraile, Carlos Tordesillas, Pedro Modrego, Isabel Alonso, Jorge Pinto-Bast. Sensory neuronopathy in ataxia with oculomotor apraxia type 2. Journal of the neurological sciences. vol 298. issue 1-2. 2011-01-28. PMID:20869730. |
the objective of this article has been to describe the presence of a sensory neuronopathy in a patient harbouring ataxia with oculomotor apraxia type 2 (aoa2). |
2011-01-28 |
2023-08-12 |
Not clear |
| Isabelle Iltis, Diane Hutter, Khalaf O Bushara, H Brent Clark, Myron Gross, Lynn E Eberly, Christopher M Gomez, Gülin O. (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. Brain research. vol 1358. 2011-01-18. PMID:20713024. |
(1)h mr spectroscopy in friedreich's ataxia and ataxia with oculomotor apraxia type 2. |
2011-01-18 |
2023-08-12 |
Not clear |
| Isabelle Iltis, Diane Hutter, Khalaf O Bushara, H Brent Clark, Myron Gross, Lynn E Eberly, Christopher M Gomez, Gülin O. (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. Brain research. vol 1358. 2011-01-18. PMID:20713024. |
friedreich's ataxia (frda) and ataxia with oculomotor apraxia type 2 (aoa2) are the two most frequent forms of autosomal recessive cerebellar ataxias. |
2011-01-18 |
2023-08-12 |
Not clear |
| James M Daley, Thomas E Wilson, Dindial Ramota. Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair. DNA repair. vol 9. issue 6. 2010-11-05. PMID:20399152. |
mutations in aprataxin cause the neurodegenerative syndrome ataxia oculomotor apraxia type 1. |
2010-11-05 |
2023-08-12 |
Not clear |
| Osamu Onoder. [Molecular mechanism for spinocerebellar ataxias]. Rinsho shinkeigaku = Clinical neurology. vol 49. issue 11. 2010-09-02. PMID:20030201. |
we have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ ataxia with oculomotor apraxia type 1 (eaoh/aoa1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at dna 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends. |
2010-09-02 |
2023-08-12 |
Not clear |
| Masayoshi Tada, Akio Yokoseki, Tatsuya Sato, Takao Makifuchi, Osamu Onoder. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. Advances in experimental medicine and biology. vol 685. 2010-08-20. PMID:20687492. |
early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. |
2010-08-20 |
2023-08-12 |
human |
| A Poretti, F Dietrich Alber, F Brancati, B Dallapiccola, E M Valente, E Boltshause. Normal cognitive functions in joubert syndrome. Neuropediatrics. vol 40. issue 6. 2010-08-12. PMID:20446224. |
we report on a 20-year-old woman with mild clinical signs of js (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (iq=93), verbal (iq=93), and performance intelligence quotient (iq=94). |
2010-08-12 |
2023-08-12 |
Not clear |
| Katsuya Nakamura, Kunihiro Yoshida, Hideo Makishita, Eiko Kitamura, Shiori Hashimoto, Shu-Ichi Iked. A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). Journal of human genetics. vol 54. issue 12. 2010-05-07. PMID:19893583. |
a novel nonsense mutation in a japanese family with ataxia with oculomotor apraxia type 2 (aoa2). |
2010-05-07 |
2023-08-12 |
Not clear |
| Katsuya Nakamura, Kunihiro Yoshida, Hideo Makishita, Eiko Kitamura, Shiori Hashimoto, Shu-Ichi Iked. A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). Journal of human genetics. vol 54. issue 12. 2010-05-07. PMID:19893583. |
we report a 67-year-old japanese woman with ataxia with oculomotor apraxia type 2 (aoa2). |
2010-05-07 |
2023-08-12 |
Not clear |
| Olivier J Becherel, Burkhard Jakob, Amy L Cherry, Nuri Gueven, Markus Fusser, Amanda W Kijas, Cheng Peng, Sachin Katyal, Peter J McKinnon, Junjie Chen, Bernd Epe, Stephen J Smerdon, Gisela Taucher-Scholz, Martin F Lavi. CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. Nucleic acids research. vol 38. issue 5. 2010-04-06. PMID:20008512. |
aprataxin, defective in the neurodegenerative disorder ataxia oculomotor apraxia type 1, resolves abortive dna ligation intermediates during dna repair. |
2010-04-06 |
2023-08-12 |
Not clear |
| M Anheim, M Fleury, B Monga, V Laugel, D Chaigne, G Rodier, E Ginglinger, C Boulay, S Courtois, N Drouot, M Fritsch, J P Delaunoy, D Stoppa-Lyonnet, C Tranchant, M Koeni. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics. vol 11. issue 1. 2010-03-22. PMID:19440741. |
a molecular diagnosis could be established for 57 patients; 36 were affected with frda, seven with ataxia plus oculomotor apraxia type 2 (aoa2), four with at, three with ataxia plus oculomotor apraxia type 1 (aoa1), three with marinesco-sjögren syndrome, two with autosomal recessive spastic ataxia of charlevoix-saguenay (arsacs), one with ataxia with vitamin e deficiency (aved) and one with autosomal recessive cerebellar ataxia type 2 (arca2). |
2010-03-22 |
2023-08-12 |
Not clear |
| Giovanni Airoldi, Andrea Guidarelli, Orazio Cantoni, Chris Panzeri, Chiara Vantaggiato, Sara Bonato, Maria Grazia D'Angelo, Sestina Falcone, Clara De Palma, Alessandra Tonelli, Claudia Crimella, Sara Bondioni, Nereo Bresolin, Emilio Clementi, Maria Teresa Bass. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. Neurogenetics. vol 11. issue 1. 2010-03-22. PMID:19593598. |
ataxia with oculomotor apraxia (aoa) type 2 (aoa2 mim 606002) is a recessive subtype of aoa characterized by cerebellar atrophy, oculomotor apraxia, early loss of reflexes, and peripheral neuropathy. |
2010-03-22 |
2023-08-12 |
Not clear |
| Janelle L Harris, Burkhard Jakob, Gisela Taucher-Scholz, Grigory L Dianov, Olivier J Becherel, Martin F Lavi. Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage. Human molecular genetics. vol 18. issue 21. 2010-02-22. PMID:19643912. |
aprataxin, defective in the neurodegenerative disorder ataxia oculomotor apraxia type 1 (aoa1), is a dna repair protein that processes the product of abortive ligations, 5' adenylated dna. |
2010-02-22 |
2023-08-12 |
Not clear |
| Brent L Fogel, Ji Yong Lee, Susan Perlma. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum (London, England). vol 8. issue 4. 2010-02-19. PMID:19727998. |
aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. |
2010-02-19 |
2023-08-12 |
Not clear |
| Brent L Fogel, Ji Yong Lee, Susan Perlma. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum (London, England). vol 8. issue 4. 2010-02-19. PMID:19727998. |
ataxia with oculomotor apraxia type 2 (aoa2) is caused by a diversity of mutations within the coding region of the senataxin gene. |
2010-02-19 |
2023-08-12 |
Not clear |
| M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J P Delaunoy, M Fritsch, L Arning, M Synofzik, L Schöls, J Sequeiros, C Goizet, C Marelli, I Le Ber, J Koht, J Gazulla, J De Bleecker, M Mukhtar, N Drouot, L Ali-Pacha, T Benhassine, M Chbicheb, A M'Zahem, A Hamri, B Chabrol, J Pouget, R Murphy, M Watanabe, P Coutinho, M Tazir, A Durr, A Brice, C Tranchant, M Koeni. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain : a journal of neurology. vol 132. issue Pt 10. 2010-02-03. PMID:19696032. |
ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. |
2010-02-03 |
2023-08-12 |
Not clear |