| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Giuliana Grimaldi, Mario Mant. Topography of cerebellar deficits in humans. Cerebellum (London, England). vol 11. issue 2. 2012-09-19. PMID:21240580. |
the cerebellar syndrome includes combinations of oculomotor disturbances, dysarthria and other speech deficits, ataxia of limbs, ataxia of stance and gait, as well as often more subtle cognitive/behavioral impairments. |
2012-09-19 |
2023-08-12 |
human |
| Nada Al Tassan, Dania Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed, Samaher Alahmed, Saeed Bohleg. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Human mutation. vol 33. issue 2. 2012-05-14. PMID:22065524. |
a missense mutation in pik3r5 gene in a family with ataxia and oculomotor apraxia. |
2012-05-14 |
2023-08-12 |
Not clear |
| Nada Al Tassan, Dania Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed, Samaher Alahmed, Saeed Bohleg. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Human mutation. vol 33. issue 2. 2012-05-14. PMID:22065524. |
ataxia with oculomotor apraxia type 2 (aoa2) is an autosomal recessive form of ataxia caused by mutations in the setx gene. |
2012-05-14 |
2023-08-12 |
Not clear |
| Percy Tumbale, C Denise Appel, Rolf Kraehenbuehl, Patrick D Robertson, Jessica S Williams, Joe Krahn, Ivan Ahel, R Scott William. Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease. Nature structural & molecular biology. vol 18. issue 11. 2012-01-20. PMID:21984210. |
structural and mutational data support a wedge-pivot-cut hit-znf catalytic mechanism for 5'-adenylate adduct recognition and removal and suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie aptx dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (aoa1). |
2012-01-20 |
2023-08-12 |
Not clear |
| Barbara Castellotti, Caterina Mariotti, Marco Rimoldi, Roberto Fancellu, Massimo Plumari, Sara Caimi, Graziella Uziel, Nardo Nardocci, Isabella Moroni, Giovanna Zorzi, Davide Pareyson, Daniela Di Bella, Stefano Di Donato, Franco Taroni, Cinzia Geller. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics. vol 12. issue 3. 2011-12-19. PMID:21465257. |
ataxia with oculomotor apraxia type1 (aoa1): novel and recurrent aprataxin mutations, coenzyme q10 analyses, and clinical findings in italian patients. |
2011-12-19 |
2023-08-12 |
human |
| Barbara Castellotti, Caterina Mariotti, Marco Rimoldi, Roberto Fancellu, Massimo Plumari, Sara Caimi, Graziella Uziel, Nardo Nardocci, Isabella Moroni, Giovanna Zorzi, Davide Pareyson, Daniela Di Bella, Stefano Di Donato, Franco Taroni, Cinzia Geller. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics. vol 12. issue 3. 2011-12-19. PMID:21465257. |
ataxia with oculomotor apraxia type1 (aoa1, mim 208920) is a rare autosomal recessive disease caused by mutations in the aptx gene. |
2011-12-19 |
2023-08-12 |
human |
| J Larry Parker, Maria Santiag. Oculomotor aspects of the hereditary cerebellar ataxias. Handbook of clinical neurology. vol 103. 2011-12-06. PMID:21827881. |
oculomotor aspects of the hereditary cerebellar ataxias. |
2011-12-06 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Alexandra Dürr, Alexis Bric. Autosomal recessive cerebellar ataxias with oculomotor apraxia. Handbook of clinical neurology. vol 103. 2011-12-06. PMID:21827898. |
autosomal recessive cerebellar ataxias with oculomotor apraxia. |
2011-12-06 |
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. |
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 |