| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Yves Agid, Michel Koenig, Giovanni Stevanin, Alexis Brice, Alexandra Dür. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain : a journal of neurology. vol 127. issue Pt 4. 2004-05-20. PMID:14736755. |
frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. |
2004-05-20 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Yves Agid, Michel Koenig, Giovanni Stevanin, Alexis Brice, Alexandra Dür. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain : a journal of neurology. vol 127. issue Pt 4. 2004-05-20. PMID:14736755. |
ataxia with oculomotor apraxia type 2 (aoa2) is a newly described autosomal recessive cerebellar ataxia (arca) defined by genetic location to 9q34 of three families sharing gait ataxia, oculomotor apraxia and/or elevated alpha-foetoprotein (afp) levels. |
2004-05-20 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui, Yves Agid, Michel Koenig, Giovanni Stevanin, Alexis Brice, Alexandra Dür. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain : a journal of neurology. vol 127. issue Pt 4. 2004-05-20. PMID:14736755. |
this study shows for the first time that aoa2 can be found in europe, north africa and the west indies, and its relative frequency represents approximately 8% of non-friedreich arca, which is more frequent than ataxia telangiectasia and ataxia with oculomotor apraxia type 1 (aoa1), in our series of adult patients. |
2004-05-20 |
2023-08-12 |
Not clear |
| Michel Koeni. Rare forms of autosomal recessive neurodegenerative ataxia. Seminars in pediatric neurology. vol 10. issue 3. 2004-03-08. PMID:14653406. |
examples of ataxia with sensory-motor polyneuropathy include ataxia with oculomotor apraxia 1 and 2 and spinocerebellar ataxia with neuropathy 1. |
2004-03-08 |
2023-08-12 |
Not clear |
| Takao Hashimoto, Osamu Sasaki, Kunihiro Yoshida, Yo-ichi Takei, Shu-ichi Iked. Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6. Movement disorders : official journal of the Movement Disorder Society. vol 18. issue 10. 2004-02-23. PMID:14534930. |
we report on a family with ataxia type 6 (sca6) showing peculiar oculomotor symptoms. |
2004-02-23 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Kuntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay, Christian Tannier, Jean-Marie Beis, Alexis Brice, Michel Koenig, Alexandra Dür. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain : a journal of neurology. vol 126. issue Pt 12. 2003-12-12. PMID:14506070. |
ataxia with ocular motor apraxia type 1 (aoa1) is an autosomal recessive cerebellar ataxia (arca) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. |
2003-12-12 |
2023-08-12 |
Not clear |
| Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Kuntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay, Christian Tannier, Jean-Marie Beis, Alexis Brice, Michel Koenig, Alexandra Dür. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain : a journal of neurology. vol 126. issue Pt 12. 2003-12-12. PMID:14506070. |
the presence of chorea, sensorimotor neuropathy, oculomotor anomalies, biological abnormalities, cerebellar atrophy on mri and absence of the babinski sign can help to distinguish aoa1 from friedreich's ataxia on a clinical basis. |
2003-12-12 |
2023-08-12 |
Not clear |
| Ergun Y Uc, Robert L Rodnitzk. Juvenile parkinsonism. Seminars in pediatric neurology. vol 10. issue 1. 2003-11-19. PMID:12785749. |
in most cases of jp, parkinsonism is accompanied by other neurologic features, such as dystonia, cognitive impairment, seizures, oculomotor and visual dysfunction, and ataxia. |
2003-11-19 |
2023-08-12 |
Not clear |