| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| G E Rudenskaia, M V Kurkina, E Iu Zakharov. [Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 112. issue 10. 2013-04-24. PMID:23250602. |
aoa are autosomal recessive ataxias with a common feature of oculomotor apraxia (oa) - inability to coordinate eye movements. |
2013-04-24 |
2023-08-12 |
Not clear |
| Monia Benhamed Hammer, Ghada El Euch-Fayache, Houda Nehdi, Dalel Saidi, Amira Nasri, Fatma Nabli, Yosr Bouhlal, Wieme Maamouri-Hicheri, Fayçal Hentati, Rim Amour. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. Diagnostic molecular pathology : the American journal of surgical pathology, part B. vol 21. issue 4. 2013-04-23. PMID:23111195. |
clinical and molecular findings of ataxia with oculomotor apraxia type 2 (aoa2) in 5 tunisian families. |
2013-04-23 |
2023-08-12 |
Not clear |
| Monia Benhamed Hammer, Ghada El Euch-Fayache, Houda Nehdi, Dalel Saidi, Amira Nasri, Fatma Nabli, Yosr Bouhlal, Wieme Maamouri-Hicheri, Fayçal Hentati, Rim Amour. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. Diagnostic molecular pathology : the American journal of surgical pathology, part B. vol 21. issue 4. 2013-04-23. PMID:23111195. |
ataxia with oculomotor apraxia type 2 (aoa2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the setx gene. |
2013-04-23 |
2023-08-12 |
Not clear |
| John J Reynolds, Grant S Stewar. A single strand that links multiple neuropathologies in human disease. Brain : a journal of neurology. vol 136. issue Pt 1. 2013-04-23. PMID:23365091. |
in particular, defects in the repair of dna single strand breaks, one of the most commonly occurring types of dna lesion, have been associated with three neuropathological diseases: ataxia oculomotor apraxia 1, spinocerebellar ataxia with neuronal neuropathy 1 and microcephaly, early-onset, intractable seizures and developmental delay. |
2013-04-23 |
2023-08-12 |
human |
| Özlem Yüce, Stephen C Wes. Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. Molecular and cellular biology. vol 33. issue 2. 2013-02-21. PMID:23149945. |
senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the dna damage response. |
2013-02-21 |
2023-08-12 |
human |
| Özlem Yüce, Stephen C Wes. Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. Molecular and cellular biology. vol 33. issue 2. 2013-02-21. PMID:23149945. |
the neurodegenerative disorder ataxia with oculomotor apraxia 2 (aoa-2) is caused by defects in senataxin, a putative rna/dna helicase thought to be involved in the termination of transcription at rna polymerase pause sites. |
2013-02-21 |
2023-08-12 |
human |
| Amaya Alzu, Rodrigo Bermejo, Martina Begnis, Chiara Lucca, Daniele Piccini, Walter Carotenuto, Marco Saponaro, Alessandra Brambati, Andrea Cocito, Marco Foiani, Giordano Liber. Senataxin associates with replication forks to protect fork integrity across RNA-polymerase-II-transcribed genes. Cell. vol 151. issue 4. 2013-01-16. PMID:23141540. |
our data, besides unmasking a key role for senataxin in coordinating replication with transcription, provide a framework for understanding the pathological mechanisms caused by senataxin deficiencies and leading to the severe neurodegenerative diseases ataxia with oculomotor apraxia type 2 and amyotrophic lateral sclerosis 4. |
2013-01-16 |
2023-08-12 |
Not clear |
| Heike Jacobi, Till-Karsten Hauser, Paola Giunti, Christoph Globas, Peter Bauer, Tanja Schmitz-Hübsch, László Baliko, Alessandro Filla, Caterina Mariotti, Maria Rakowicz, Perine Charles, Pascale Ribai, Sandra Szymanski, Jon Infante, Bart P C van de Warrenburg, Alexandra Dürr, Dagmar Timmann, Sylvia Boesch, Roberto Fancellu, Rafal Rola, Chantal Depondt, Ludger Schöls, Elzbieta Zdzienicka, Jun-Suk Kang, Susanne Ratzka, Berry Kremer, Dennis A Stephenson, Béla Melegh, Massimo Pandolfo, Sophie Tezenas du Montcel, Johannes Borkert, Jörg B Schulz, Thomas Klockgethe. Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum (London, England). vol 11. issue 1. 2012-12-04. PMID:21701895. |
to assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (scas), we analysed the baseline data of the eurosca natural history study, a multicentric cohort study of 526 patients with either spinocerebellar ataxia type 1, 2, 3 or 6. |
2012-12-04 |
2023-08-12 |
Not clear |
| E Chidlovskii, A Tahar, G Deschasse, P Couturie. [Wernicke's encephalopathy associated with pellagra encephalopathy: rare and unusual complication in an elderly woman hospitalized for aspiration pneumonia]. La Revue de medecine interne. vol 33. issue 8. 2012-11-29. PMID:22703872. |
wernicke's encephalopathy caused by thiamine deficiency is typically characterised by a mental-status change, oculomotor dysfunction and an ataxia. |
2012-11-29 |
2023-08-12 |
Not clear |
| A Awada, S Al Rajeh, O Bademosi, H Ismai. Pattern of degenerative ataxias in the eastern province of Saudi Arabia. Annals of Saudi medicine. vol 13. issue 2. 2012-10-02. PMID:17588019. |
uncommon types such as ataxia with hypogonadotropic hypogonadism and ataxia with oculomotor apraxia were encountered. |
2012-10-02 |
2023-08-12 |
Not clear |
| Peter Klivényi, Dezso Nemeth, Tamas Sefcsik, Karolina Janacsek, Ildiko Hoffmann, Gabor Peter Haden, Zsuzsa Londe, Laszlo Vecse. Cognitive functions in ataxia with oculomotor apraxia type 2. Frontiers in neurology. vol 3. 2012-10-02. PMID:23015802. |
cognitive functions in ataxia with oculomotor apraxia type 2. |
2012-10-02 |
2023-08-12 |
Not clear |
| Peter Klivényi, Dezso Nemeth, Tamas Sefcsik, Karolina Janacsek, Ildiko Hoffmann, Gabor Peter Haden, Zsuzsa Londe, Laszlo Vecse. Cognitive functions in ataxia with oculomotor apraxia type 2. Frontiers in neurology. vol 3. 2012-10-02. PMID:23015802. |
ataxia with oculomotor apraxia type 2 (aoa2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (afp) levels. |
2012-10-02 |
2023-08-12 |
Not clear |
| 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 |