| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |