| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Stefano D'Arrigo, Daria Riva, Sara Bulgheroni, Luisa Chiapparini, Barbara Castellotti, Cinzia Gellera, Chiara Pantaleon. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. Journal of child neurology. vol 23. issue 8. 2008-10-17. PMID:18403580. |
ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. |
2008-10-17 |
2023-08-12 |
Not clear |
| Mathieu Anheim, Marie-Celine Fleury, Jerome Franques, Maria-Ceu Moreira, Jean-Pierre Delaunoy, Dominique Stoppa-Lyonnet, Michel Koenig, Christine Tranchan. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Archives of neurology. vol 65. issue 7. 2008-08-04. PMID:18625865. |
clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. |
2008-08-04 |
2023-08-12 |
Not clear |
| Mathieu Anheim, Marie-Celine Fleury, Jerome Franques, Maria-Ceu Moreira, Jean-Pierre Delaunoy, Dominique Stoppa-Lyonnet, Michel Koenig, Christine Tranchan. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Archives of neurology. vol 65. issue 7. 2008-08-04. PMID:18625865. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive disease caused by setx mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated alpha-fetoprotein (afp) serum level, and occasional oculomotor apraxia. |
2008-08-04 |
2023-08-12 |
Not clear |
| Paola Porcedda, Valentina Turinetto, Alfredo Brusco, Simona Cavalieri, Erica Lantelme, Luca Orlando, Umberto Ricardi, Antonio Amoroso, Dario Gregori, Claudia Giachin. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry. Part A : the journal of the International Society for Analytical Cytology. vol 73. issue 6. 2008-07-15. PMID:18431795. |
to further evaluate the specificity and sensitivity of the test, we analyzed cells from 19 patients suspected of having a-t, and from one friedreich ataxia, one ataxia with oculomotor apraxia type 2, and one nijmegen breakage syndrome patients. |
2008-07-15 |
2023-08-12 |
Not clear |
| Paola Porcedda, Valentina Turinetto, Alfredo Brusco, Simona Cavalieri, Erica Lantelme, Luca Orlando, Umberto Ricardi, Antonio Amoroso, Dario Gregori, Claudia Giachin. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry. Part A : the journal of the International Society for Analytical Cytology. vol 73. issue 6. 2008-07-15. PMID:18431795. |
the friedreich ataxia patient, the ataxia with oculomotor apraxia type 2 patient and the nijmegen breakage syndrome patient were classified as non-a-t. |
2008-07-15 |
2023-08-12 |
Not clear |
| Elena Salvatore, Andrea Varrone, Chiara Criscuolo, Pietro Mancini, Valeria Sansone, Caterina Strisciuglio, Domenico Cicala, Valencia Scarano, Marco Salvatore, Sabina Pappatà, Giuseppe De Michele, Alessandro Fill. Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. Journal of neurology. vol 255. issue 1. 2008-05-14. PMID:18004640. |
nigrostriatal involvement in ataxia with oculomotor apraxia type 1. |
2008-05-14 |
2023-08-12 |
human |
| Elena Salvatore, Andrea Varrone, Chiara Criscuolo, Pietro Mancini, Valeria Sansone, Caterina Strisciuglio, Domenico Cicala, Valencia Scarano, Marco Salvatore, Sabina Pappatà, Giuseppe De Michele, Alessandro Fill. Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. Journal of neurology. vol 255. issue 1. 2008-05-14. PMID:18004640. |
ataxia with oculomotor apraxia type 1 (aoa1) is a rare autosomal recessive neurodegenerative disease, recently associated with mutations in the aprataxin gene. |
2008-05-14 |
2023-08-12 |
human |
| Paschalis Nicolaou, Anthi Georghiou, Christina Votsi, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Kyproula Christodoulo. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. BMC medical genetics. vol 9. 2008-04-25. PMID:18405395. |
senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of ataxia (arca), termed as ataxia with oculomotor apraxia, type 2 (aoa2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (afp). |
2008-04-25 |
2023-08-12 |
Not clear |
| M S Zaki, A Abdel-Aleem, G Abdel-Salam, S E Marsh, J L Silhavy, A J Barkovich, M E Ross, S N Saleem, W B Dobyns, J G Gleeso. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. vol 70. issue 7. 2008-03-06. PMID:18268248. |
joubert syndrome and related cerebellar disorders (jsrd) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. |
2008-03-06 |
2023-08-12 |
Not clear |
| G Yoon, R Westmacott, L MacMillan, N Quercia, P Koutsou, A Georghiou, K Christodoulou, B Banwel. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. Journal of neurology, neurosurgery, and psychiatry. vol 79. issue 2. 2008-02-06. PMID:18202221. |
complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. |
2008-02-06 |
2023-08-12 |
Not clear |
| David R Lynch, Corey D Braastad, Narasimhan Naga. Ovarian failure in ataxia with oculomotor apraxia type 2. American journal of medical genetics. Part A. vol 143A. issue 15. 2008-01-16. PMID:17593543. |
ovarian failure in ataxia with oculomotor apraxia type 2. |
2008-01-16 |
2023-08-12 |
Not clear |
| David R Lynch, Corey D Braastad, Narasimhan Naga. Ovarian failure in ataxia with oculomotor apraxia type 2. American journal of medical genetics. Part A. vol 143A. issue 15. 2008-01-16. PMID:17593543. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive disorder associated with mutations in the senataxin (setx) gene. |
2008-01-16 |
2023-08-12 |
Not clear |
| A G Bassuk, Y Z Chen, S D Batish, N Nagan, P Opal, P F Chance, C L Bennet. In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. Neurogenetics. vol 8. issue 1. 2008-01-09. PMID:17096168. |
senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (aoa2) and (2) juvenile amyotrophic lateral sclerosis 4 (als4). |
2008-01-09 |
2023-08-12 |
Not clear |
| Moreno Ferrarini, Giovanna Squintani, Tiziana Cavallaro, Sergio Ferrari, Nicolo' Rizzuto, Gian Maria Fabriz. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. Journal of the neurological sciences. vol 260. issue 1-2. 2007-12-06. PMID:17572444. |
ataxia oculomotor apraxia type 1 (aoa1) is the most common form of autosomal recessive ataxia in japan, and the second in portugal after friedreich ataxia. |
2007-12-06 |
2023-08-12 |
Not clear |
| N Gueven, O J Becherel, O Howe, P Chen, J-F Haince, M-E Ouellet, G G Poirier, N Waterhouse, M Fusser, B Epe, J M de Murcia, G de Murcia, C H McGowan, R Parton, C Mothersill, P Grattan-Smith, M F Lavi. A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. Cell death and differentiation. vol 14. issue 6. 2007-11-27. PMID:17347666. |
a novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. |
2007-11-27 |
2023-08-12 |
Not clear |
| N Gueven, O J Becherel, O Howe, P Chen, J-F Haince, M-E Ouellet, G G Poirier, N Waterhouse, M Fusser, B Epe, J M de Murcia, G de Murcia, C H McGowan, R Parton, C Mothersill, P Grattan-Smith, M F Lavi. A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. Cell death and differentiation. vol 14. issue 6. 2007-11-27. PMID:17347666. |
several different autosomal recessive genetic disorders characterized by ataxia with oculomotor apraxia (aoa) have been identified with the unifying feature of defective dna damage recognition and/or repair. |
2007-11-27 |
2023-08-12 |
Not clear |
| Ulrich Rass, Ivan Ahel, Stephen C Wes. Defective DNA repair and neurodegenerative disease. Cell. vol 130. issue 6. 2007-11-01. PMID:17889645. |
this review focuses on studies defining the molecular defects associated with several human neurological disorders, particularly ataxia with oculomotor apraxia 1 (aoa1) and spinocerebellar ataxia with axonal neuropathy 1 (scan1). |
2007-11-01 |
2023-08-12 |
human |
| Amila Suraweera, Olivier J Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fusser, Bernd Epe, Nuri Gueven, Martin F Lavi. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. The Journal of cell biology. vol 177. issue 6. 2007-09-12. PMID:17562789. |
senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative dna damage. |
2007-09-12 |
2023-08-12 |
human |
| Amila Suraweera, Olivier J Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fusser, Bernd Epe, Nuri Gueven, Martin F Lavi. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. The Journal of cell biology. vol 177. issue 6. 2007-09-12. PMID:17562789. |
a defective response to dna damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxia-telangiectasia. |
2007-09-12 |
2023-08-12 |
human |
| Amila Suraweera, Olivier J Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fusser, Bernd Epe, Nuri Gueven, Martin F Lavi. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. The Journal of cell biology. vol 177. issue 6. 2007-09-12. PMID:17562789. |
we report that senataxin, defective in ataxia oculomotor apraxia (aoa) type 2, is a nuclear protein involved in the dna damage response. |
2007-09-12 |
2023-08-12 |
human |