| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Grace Yoon, Robyn Westmacott, Lynn Macmillan, Nada Quercia, Pantelitsa Koutsou, Anthi Georghiou, Kyproula Christodoulou, Brenda Banwel. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. BMJ case reports. vol 2009. 2011-11-10. PMID:21686683. |
complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. |
2011-11-10 |
2023-08-12 |
Not clear |
| Grace Yoon, Robyn Westmacott, Lynn Macmillan, Nada Quercia, Pantelitsa Koutsou, Anthi Georghiou, Kyproula Christodoulou, Brenda Banwel. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. BMJ case reports. vol 2009. 2011-11-10. PMID:21686683. |
ataxia with oculomotor apraxia type 1 (aoa1) is a recently described autosomal-recessive neurodegenerative condition of childhood onset. |
2011-11-10 |
2023-08-12 |
Not clear |
| Nathaniel Robb Whaley, Shinsuke Fujioka, Zbigniew K Wszole. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet journal of rare diseases. vol 6. 2011-10-18. PMID:21619691. |
type i autosomal dominant cerebellar ataxia (adca) is a type of spinocerebellar ataxia (sca) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. |
2011-10-18 |
2023-08-12 |
Not clear |
| C Zühlke, F Kreuz, K Bür. [Clinical details and genetics of recessive ataxias]. Der Nervenarzt. vol 82. issue 4. 2011-09-02. PMID:20640395. |
the most frequent of these rare disorders in the caucasian population is friedreich's ataxia followed by ataxias with oculomotor apraxia. |
2011-09-02 |
2023-08-12 |
Not clear |
| J T Sequeira Lopes da Silva, R Almaraz Velarde, F Olgado Ferrero, M Robles Marcos, D Pérez Civantos, J M Ramírez Moreno, L M Luengo Pére. Wernicke's encephalopathy induced by total parental nutrition. Nutricion hospitalaria. vol 25. issue 6. 2011-09-01. PMID:21519777. |
wernicke's encephalopathy is an acute neurological syndrome due to thiamine deficiency, which is characterized by a typical triad of mental status changes, oculomotor dysfunction and ataxia. |
2011-09-01 |
2023-08-12 |
Not clear |
| Chiara Vantaggiato, Sara Bondioni, Giovanni Airoldi, Andrea Bozzato, Giuseppe Borsani, Elena I Rugarli, Nereo Bresolin, Emilio Clementi, Maria Teresa Bass. Senataxin modulates neurite growth through fibroblast growth factor 8 signalling. Brain : a journal of neurology. vol 134. issue Pt 6. 2011-07-29. PMID:21576111. |
senataxin is encoded by the setx gene and is mainly involved in two different neurodegenerative diseases, the dominant juvenile form of amyotrophic lateral sclerosis type 4 and a recessive form of ataxia with oculomotor apraxia type 2. |
2011-07-29 |
2023-08-12 |
Not clear |
| Claudia Crimella, Orazio Cantoni, Andrea Guidarelli, Chiara Vantaggiato, Andrea Martinuzzi, Mara Fiorani, Catia Azzolini, Genny Orso, Nereo Bresolin, Maria Teresa Bass. A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents. Human mutation. vol 32. issue 4. 2011-07-22. PMID:21412945. |
aptx is the gene involved in ataxia with oculomotor apraxia type 1 (aoa1), a recessive disorder with early-onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. |
2011-07-22 |
2023-08-12 |
Not clear |
| Peter Sykora, Deborah L Croteau, Vilhelm A Bohr, David M Wilso. Aprataxin localizes to mitochondria and preserves mitochondrial function. Proceedings of the National Academy of Sciences of the United States of America. vol 108. issue 18. 2011-07-15. PMID:21502511. |
ataxia with oculomotor apraxia 1 is caused by mutation in the aptx gene, which encodes the dna strand-break repair protein aprataxin. |
2011-07-15 |
2023-08-12 |
human |
| Juliette Martin, Marie V St-Pierre, Jean-François Dufou. Hit proteins, mitochondria and cancer. Biochimica et biophysica acta. vol 1807. issue 6. 2011-07-05. PMID:21316334. |
aprataxin forms another discrete branch of the hit superfamily, is implicated in dna repair mechanisms and unlike the hint and fhit members, a defective protein can be conclusively linked to a disease, ataxia with oculomotor apraxia type 1. |
2011-07-05 |
2023-08-12 |
Not clear |
| Saeed A Bohlega, Jameela M Shinwari, Latifa J Al Sharif, Dania S Khalil, Thamer S Alkhairallah, Nada A Al Tassa. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. BMC medical genetics. vol 12. 2011-05-06. PMID:21324166. |
clinical and molecular characterization of ataxia with oculomotor apraxia patients in saudi arabia. |
2011-05-06 |
2023-08-12 |
Not clear |
| Saeed A Bohlega, Jameela M Shinwari, Latifa J Al Sharif, Dania S Khalil, Thamer S Alkhairallah, Nada A Al Tassa. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. BMC medical genetics. vol 12. 2011-05-06. PMID:21324166. |
these include ataxia with oculomotor apraxia type1 (aoa1), ataxia with oculomotor apraxia type 2 (aoa2) and ataxia-telangiectasia-like disease (atld). |
2011-05-06 |
2023-08-12 |
Not clear |
| Saeed A Bohlega, Jameela M Shinwari, Latifa J Al Sharif, Dania S Khalil, Thamer S Alkhairallah, Nada A Al Tassa. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. BMC medical genetics. vol 12. 2011-05-06. PMID:21324166. |
in the present study we describe in detail the clinical features and results of genetic analysis of 9 patients from 4 saudi families with ataxia and oculomotor apraxia. |
2011-05-06 |
2023-08-12 |
Not clear |
| 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 |