| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aya Ito, Takanori Yamagata, Masato Mori, Mariko Y Momo. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation. Pediatric neurology. vol 33. issue 1. 2006-01-09. PMID:15876520. |
this study reports two cases of siblings with early-onset ataxia with oculomotor apraxia and hypoalbuminemia, which manifested early onset before 2 years of age with relatively rapid progression and severe dystonia. |
2006-01-09 |
2023-08-12 |
Not clear |
| Chang Y Tsao, George Paulso. Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children. Journal of child neurology. vol 20. issue 7. 2005-10-20. PMID:16159533. |
type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two american children. |
2005-10-20 |
2023-08-12 |
Not clear |
| Chang Y Tsao, George Paulso. Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children. Journal of child neurology. vol 20. issue 7. 2005-10-20. PMID:16159533. |
ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. |
2005-10-20 |
2023-08-12 |
Not clear |
| Chang Y Tsao, George Paulso. Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children. Journal of child neurology. vol 20. issue 7. 2005-10-20. PMID:16159533. |
we report two american children, a sister and a brother, with type 1 ataxia with oculomotor apraxia and aprataxin gene mutations and briefly review type 1 ataxia with oculomotor apraxia. |
2005-10-20 |
2023-08-12 |
Not clear |
| Stefanie Richter, Albena Dimitrova, Matthias Maschke, Elke Gizewski, Andreas Beck, Volker Aurich, Dagmar Timman. Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degeneration. European neurology. vol 54. issue 1. 2005-10-14. PMID:16088175. |
total icars score significantly inversely correlated with the cerebellar volume (r = -0.805, p < 0.0001), correlations between icars subscores and cerebellar volume were significant for upper and lower limb ataxia, ataxia of posture and gait, and dysarthria, but not for the oculomotor subscore. |
2005-10-14 |
2023-08-12 |
Not clear |
| C M Quinzii, A G Kattah, A Naini, H O Akman, V K Mootha, S DiMauro, M Hiran. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology. vol 64. issue 3. 2005-09-19. PMID:15699391. |
in a family with ataxia and coq10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (aptx) mutation that causes ataxia oculomotor apraxia (aoa1 [mim606350]). |
2005-09-19 |
2023-08-12 |
Not clear |
| Muhammad Mahajnah, Lina Basel-Vanagaite, Dov Inbar, Liora Kornreich, Raphael Weitz, Rachel Straussber. Familial cognitive impairment with ataxia with oculomotor apraxia. Journal of child neurology. vol 20. issue 6. 2005-08-16. PMID:15996403. |
familial cognitive impairment with ataxia with oculomotor apraxia. |
2005-08-16 |
2023-08-12 |
Not clear |
| Muhammad Mahajnah, Lina Basel-Vanagaite, Dov Inbar, Liora Kornreich, Raphael Weitz, Rachel Straussber. Familial cognitive impairment with ataxia with oculomotor apraxia. Journal of child neurology. vol 20. issue 6. 2005-08-16. PMID:15996403. |
ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral neuropathy. |
2005-08-16 |
2023-08-12 |
Not clear |
| Muhammad Mahajnah, Lina Basel-Vanagaite, Dov Inbar, Liora Kornreich, Raphael Weitz, Rachel Straussber. Familial cognitive impairment with ataxia with oculomotor apraxia. Journal of child neurology. vol 20. issue 6. 2005-08-16. PMID:15996403. |
diagnosis is based on molecular genetic analysis for mutations of the aprataxin (aptx) gene (chromosome 9p13.1; ataxia with oculomotor apraxia 1). |
2005-08-16 |
2023-08-12 |
Not clear |
| Muhammad Mahajnah, Lina Basel-Vanagaite, Dov Inbar, Liora Kornreich, Raphael Weitz, Rachel Straussber. Familial cognitive impairment with ataxia with oculomotor apraxia. Journal of child neurology. vol 20. issue 6. 2005-08-16. PMID:15996403. |
ataxia with oculomotor apraxia 2 is caused by an unknown gene mutation at locus 9q34. |
2005-08-16 |
2023-08-12 |
Not clear |
| Muhammad Mahajnah, Lina Basel-Vanagaite, Dov Inbar, Liora Kornreich, Raphael Weitz, Rachel Straussber. Familial cognitive impairment with ataxia with oculomotor apraxia. Journal of child neurology. vol 20. issue 6. 2005-08-16. PMID:15996403. |
the molecular genetic analysis demonstrated the aptx mutation w279x at locus 9p13.3 (ataxia with oculomotor apraxia 1 disease), and psychologic studies showed mild cognitive impairment. |
2005-08-16 |
2023-08-12 |
Not clear |
| Muhammad Mahajnah, Lina Basel-Vanagaite, Dov Inbar, Liora Kornreich, Raphael Weitz, Rachel Straussber. Familial cognitive impairment with ataxia with oculomotor apraxia. Journal of child neurology. vol 20. issue 6. 2005-08-16. PMID:15996403. |
we suggest that mentation can be compromised in ataxia with oculomotor apraxia 1. |
2005-08-16 |
2023-08-12 |
Not clear |
| C Criscuolo, P Mancini, F Saccà, G De Michele, A Monticelli, L Santoro, V Scarano, S Banfi, A Fill. Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. Neurology. vol 63. issue 11. 2005-08-04. PMID:15596775. |
ataxia with oculomotor apraxia type 1 in southern italy: late onset and variable phenotype. |
2005-08-04 |
2023-08-12 |
Not clear |
| C Criscuolo, P Mancini, F Saccà, G De Michele, A Monticelli, L Santoro, V Scarano, S Banfi, A Fill. Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. Neurology. vol 63. issue 11. 2005-08-04. PMID:15596775. |
ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. |
2005-08-04 |
2023-08-12 |
Not clear |
| Heather F Seidle, Pawel Bieganowski, Charles Brenne. Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin. The Journal of biological chemistry. vol 280. issue 22. 2005-07-12. PMID:15790557. |
alleles carrying any of eight recessive mutations associated with ataxia and oculomotor apraxia encode proteins with huge losses in protein stability and enzymatic activity, consistent with a null phenotype. |
2005-07-12 |
2023-08-12 |
Not clear |
| Heather F Seidle, Pawel Bieganowski, Charles Brenne. Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin. The Journal of biological chemistry. vol 280. issue 22. 2005-07-12. PMID:15790557. |
the mild presentation allele, aptx-k197q, associated with ataxia but not oculomotor apraxia, encodes a protein with a mild defect in stability and activity, while enzyme encoded by the atypical presentation allele, aptx-r199h, retained substantial function, consistent with altered and not loss of activity. |
2005-07-12 |
2023-08-12 |
Not clear |
| Chiara Criscuolo, Pietro Mancini, Valeria Menchise, Francesco Saccà, Giuseppe De Michele, Sandro Banfi, Alessandro Fill. Very late onset in ataxia oculomotor apraxia type I. Annals of neurology. vol 57. issue 5. 2005-06-24. PMID:15852392. |
very late onset in ataxia oculomotor apraxia type i. |
2005-06-24 |
2023-08-12 |
Not clear |
| Antoine Duquette, Katel Roddier, Julia McNabb-Baltar, Isabelle Gosselin, Anik St-Denis, Marie-Josée Dicaire, Lina Loisel, Damian Labuda, Luc Marchand, Jean Mathieu, Jean-Pierre Bouchard, Bernard Brai. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Annals of neurology. vol 57. issue 3. 2005-04-25. PMID:15732101. |
all cases have a homogeneous phenotype consisting of a progressive ataxia appearing between 2 and 20 (mean age, 14.8) years of age with associated dysarthria, saccadic ocular pursuit, distal amyotrophy, sensory and motor neuropathy, and increased alpha-fetoprotein levels but absence of oculomotor apraxia. |
2005-04-25 |
2023-08-12 |
Not clear |
| Helen H Chun, Richard A Gatt. Ataxia-telangiectasia, an evolving phenotype. DNA repair. vol 3. issue 8-9. 2005-02-14. PMID:15279807. |
with the aid of molecular testing, a-t can now be distinguished from other autosomal recessive cerebellar ataxias (arcas) such as friedreich ataxia, mre11 deficiency (at-like disease), and the oculomotor apraxias 1 (aprataxin deficiency) and 2 (senataxin deficiency). |
2005-02-14 |
2023-08-12 |
Not clear |
| Hao Luo, Doug W Chan, Tao Yang, Maria Rodriguez, Benjamin Ping-Chi Chen, Mei Leng, Jung-Jung Mu, David Chen, Zhou Songyang, Yi Wang, Jun Qi. A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment. Molecular and cellular biology. vol 24. issue 19. 2004-11-01. PMID:15367657. |
one complex contains known enzymes that are important for ssbr, including dna ligase 3 (dnl3), polynucleotide kinase 3'-phosphatase, and polymerase beta; the other is a new complex that contains dnl3 and the ataxia with oculomotor apraxia type 1 (aoa) gene product aprataxin. |
2004-11-01 |
2023-08-12 |
Not clear |