| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Brent L Fogel, Susan Perlma. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology. vol 67. issue 11. 2007-01-08. PMID:17159128. |
novel mutations in the senataxin dna/rna helicase domain in ataxia with oculomotor apraxia 2. |
2007-01-08 |
2023-08-12 |
Not clear |
| Andrew S Gurwood, Jenni Drak. Guillain-Barré syndrome. Optometry (St. Louis, Mo.). vol 77. issue 11. 2007-01-04. PMID:17145565. |
the miller fisher variant of gbs is a distinct syndrome in which the only neurologic deficits are oculomotor palsies, areflexia, and ataxia. |
2007-01-04 |
2023-08-12 |
Not clear |
| Ivan Ahel, Ulrich Rass, Sherif F El-Khamisy, Sachin Katyal, Paula M Clements, Peter J McKinnon, Keith W Caldecott, Stephen C Wes. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature. vol 443. issue 7112. 2006-11-09. PMID:16964241. |
ataxia oculomotor apraxia-1 (aoa1) is a neurological disorder caused by mutations in the gene (aptx) encoding aprataxin. |
2006-11-09 |
2023-08-12 |
mouse |
| Osamu Onoder. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 26. issue 4. 2006-10-25. PMID:16961074. |
at least four disorders, ataxia telangiectasia (at), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh)/ ataxia with oculomotor apraxia type 1 (aoa1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (oma), which is an impairment of saccadic eye movement initiation. |
2006-10-25 |
2023-08-12 |
Not clear |
| Olivier J Becherel, Nuri Gueven, Geoff W Birrell, Valérie Schreiber, Amila Suraweera, Burkhard Jakob, Gisela Taucher-Scholz, Martin F Lavi. Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. Human molecular genetics. vol 15. issue 14. 2006-09-08. PMID:16777843. |
the aptx gene, mutated in patients with the neurological disorder ataxia with oculomotor apraxia type 1 (aoa1), encodes a novel protein aprataxin. |
2006-09-08 |
2023-08-12 |
Not clear |
| Amanda W Kijas, Janelle L Harris, Jonathan M Harris, Martin F Lavi. Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. The Journal of biological chemistry. vol 281. issue 20. 2006-07-21. PMID:16547001. |
ataxia with oculomotor apraxia type 1 (aoa1) is an early onset autosomal recessive spinocerebellar ataxia with a defect in the protein aprataxin, implicated in the response of cells to dna damage. |
2006-07-21 |
2023-08-12 |
Not clear |
| Amre Shahwan, Philip J Byrd, A Malcolm R Taylor, Therese Nestor, Stephanie Ryan, Mary D Kin. Atypical presentation of ataxia-oculomotor apraxia type 1. Developmental medicine and child neurology. vol 48. issue 6. 2006-07-06. PMID:16700949. |
a subgroup of autosomal recessive cerebellar ataxias (arcas) associated with oculomotor apraxia (oma) and other variable features has been reported. |
2006-07-06 |
2023-08-12 |
Not clear |
| C Criscuolo, L Chessa, S Di Giandomenico, P Mancini, F Saccà, G S Grieco, M Piane, F Barbieri, G De Michele, S Banfi, F Pierelli, N Rizzuto, F M Santorelli, L Gallosti, A Filla, C Casal. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology. vol 66. issue 8. 2006-06-05. PMID:16636238. |
ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. |
2006-06-05 |
2023-08-12 |
Not clear |
| C Criscuolo, L Chessa, S Di Giandomenico, P Mancini, F Saccà, G S Grieco, M Piane, F Barbieri, G De Michele, S Banfi, F Pierelli, N Rizzuto, F M Santorelli, L Gallosti, A Filla, C Casal. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology. vol 66. issue 8. 2006-06-05. PMID:16636238. |
ataxia with oculomotor apraxia type 2 (aoa2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (oma), and elevated serum alpha-fetoprotein (afp) levels. |
2006-06-05 |
2023-08-12 |
Not clear |
| I Le Ber, S Rivaud-Péchoux, A Brice, A Dür. [Autosomal recessive cerebellar ataxias with oculomotor apraxia]. Revue neurologique. vol 162. issue 2. 2006-05-02. PMID:16518257. |
[autosomal recessive cerebellar ataxias with oculomotor apraxia]. |
2006-05-02 |
2023-08-12 |
Not clear |
| Y Bouhlal, G El-Euch-Fayeche, R Amouri, F Hentat. Distinct phenotypes within autosomal recessive ataxias not linked to already known loci. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 24. issue 2. 2006-04-21. PMID:16550933. |
a genetic linkage study was performed with markers spanning the friedreich ataxia, spastic ataxia of the charlevoix-saguenay, autosomal recessive ataxia associated with isolated vitamin e deficiency, ataxia with oculomotor apraxia, infantile onset spinocerebellar ataxia, ataxia with hearing loss and optic atrophy, at, atld, spinocerebellar ataxia with axonal neuropathy, cayman ataxia, cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, salla syndrome, marinesco-sjögren and the childhood spinocerebellar ataxia loci. |
2006-04-21 |
2023-08-12 |
human |
| Y Bouhlal, G El-Euch-Fayeche, R Amouri, F Hentat. Distinct phenotypes within autosomal recessive ataxias not linked to already known loci. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 24. issue 2. 2006-04-21. PMID:16550933. |
out of the 20 families, 4 showed linkage to the spastic ataxia of the charlevoix-saguenay locus, one to the friedreich ataxia locus and one to the ataxia with oculomotor apraxia locus. |
2006-04-21 |
2023-08-12 |
human |
| Rie Oda, Tsuyoshi Takemoto, Motoharu Kawai, Hiroshi Yamashit. [Study of oculomotor disorders in spinocerebellar ataxia genotype]. Nihon Jibiinkoka Gakkai kaiho. vol 109. issue 1. 2006-04-13. PMID:16480004. |
we compared the degree of lower extremity ataxia with the degree of oculomotor disorder by using eye tracking tests (ett) and optokinetic pattern tests (okp). |
2006-04-13 |
2023-08-12 |
Not clear |
| Rie Oda, Tsuyoshi Takemoto, Motoharu Kawai, Hiroshi Yamashit. [Study of oculomotor disorders in spinocerebellar ataxia genotype]. Nihon Jibiinkoka Gakkai kaiho. vol 109. issue 1. 2006-04-13. PMID:16480004. |
this means that sca3 and sca6 tend to have oculomotor disorder precedes extremity ataxia. |
2006-04-13 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Alexis Brice, Alexandra Dür. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Current neurology and neuroscience reports. vol 5. issue 5. 2006-01-20. PMID:16131425. |
new autosomal recessive cerebellar ataxias with oculomotor apraxia. |
2006-01-20 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Alexis Brice, Alexandra Dür. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Current neurology and neuroscience reports. vol 5. issue 5. 2006-01-20. PMID:16131425. |
it includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (aoa1) and type 2 (aoa2). |
2006-01-20 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Alexis Brice, Alexandra Dür. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Current neurology and neuroscience reports. vol 5. issue 5. 2006-01-20. PMID:16131425. |
recently, the genes for two new autosomal recessive cerebellar ataxias with oculomotor apraxia, aoa1 and aoa2, were identified. |
2006-01-20 |
2023-08-12 |
Not clear |
| C Espinós-Armero, P González-Cabo, F Palau-Martíne. [Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]. Revista de neurologia. vol 41. issue 7. 2006-01-12. PMID:16193447. |
other forms are much less common, and include abetaliproteinemia, ataxia with vitamin e deficiency (aved), ataxia with oculomotor apraxia types 1 (aoa1) and 2 (aoa2), early onset cerebellar ataxia with retained reflexes, charlevoix-saguenay spastic ataxia, and joubert syndrome. |
2006-01-12 |
2023-08-12 |
Not clear |
| 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. |
early-onset ataxia with oculomotor apraxia with a novel aptx mutation. |
2006-01-09 |
2023-08-12 |
Not clear |
| 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. |
early-onset ataxia with oculomotor apraxia and hypoalbuminemia is an autosomal recessive cerebellar ataxia characterized by oculomotor apraxia, peripheral neuropathy, and hypoalbuminemia. |
2006-01-09 |
2023-08-12 |
Not clear |