| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers. Cerebellum (London, England). 2023-04-28. PMID:37117990. |
in this consensus paper of the ataxia global initiative working group on digital oculomotor biomarkers, based on a systematic literature review, we propose harmonized methodology and measurement parameters for the quantitative assessment of oculomotor function in natural-history studies and clinical trials in hereditary ataxia. |
2023-04-28 |
2023-08-14 |
human |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers. Cerebellum (London, England). 2023-04-28. PMID:37117990. |
standardization of quantitative oculomotor assessments will facilitate their implementation, interpretation, and validation in clinical trials, and ultimately advance our understanding of the evolution of oculomotor network dysfunction in hereditary ataxias. |
2023-04-28 |
2023-08-14 |
human |
| Azharul Islam, Anirban Chakraborty, Stefano Gambardella, Rosa Campopiano, Altaf H Sarker, Istvan Boldogh, Tapas Hazr. Functional analysis of a conserved site mutation in the DNA processing enzyme PNKP leading to Ataxia with Oculomotor Apraxia type 4 (AOA4) in humans. The Journal of biological chemistry. 2023-04-15. PMID:37061005. |
functional analysis of a conserved site mutation in the dna processing enzyme pnkp leading to ataxia with oculomotor apraxia type 4 (aoa4) in humans. |
2023-04-15 |
2023-08-14 |
Not clear |
| Azharul Islam, Anirban Chakraborty, Stefano Gambardella, Rosa Campopiano, Altaf H Sarker, Istvan Boldogh, Tapas Hazr. Functional analysis of a conserved site mutation in the DNA processing enzyme PNKP leading to Ataxia with Oculomotor Apraxia type 4 (AOA4) in humans. The Journal of biological chemistry. 2023-04-15. PMID:37061005. |
recent reports have shown that mutation at a conserved glutamine (gln) in pnkp leads to late-onset ataxia with oculomotor apraxia type 4 (aoa4) in humans, and embryonic lethality in pigs. |
2023-04-15 |
2023-08-14 |
Not clear |
| Mehri Salari, Masoud Etemadifar, Ronak Rashedi, Sayna Mardan. A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias. Cerebellum (London, England). 2023-03-31. PMID:37000369. |
the main search keywords were ocular motor, oculomotor, eye movement, eye motility, and ocular motility, along with each ataxia subtype. |
2023-03-31 |
2023-08-14 |
Not clear |
| Marina A Shurupova, Alexander V Latano. Oculomotor Impairments in Children After Posterior Fossa Tumors Treatment. Cerebellum (London, England). 2023-03-31. PMID:37000368. |
also, we investigated the relationship between oculomotor functions and ataxia measured with international cooperative ataxia rating scale (icars). |
2023-03-31 |
2023-08-14 |
Not clear |
| Marc Rodrigo-Gisbert, Arnau Llaurado, Andres Baucells, Cristina Auger, Victoria Gonzále. Clinical Reasoning: An 82-Year-Old Woman With Subacute Ophthalmoparesis and Ataxia. Neurology. 2023-03-29. PMID:36990717. |
we present a case of an 82-year-old female with subacute altered mental status, oculomotor disturbances, and ataxia. |
2023-03-29 |
2023-08-14 |
Not clear |
| Rikiya Imamura, Mizuki Saito, Mikio Shimada, Junya Kobayashi, Masamichi Ishiai, Yoshihisa Matsumot. APTX acts in DNA double-strand break repair in a manner distinct from XRCC4. Journal of radiation research. 2023-03-20. PMID:36940705. |
aprataxin (aptx), the product of the causative gene for hereditary neurogenerative syndromes ataxia-oculomotor apraxia 1 and early onset ataxia with oculomotor apraxia and hypoalbuminemia, has an enzymatic activity of removing adenosine monophosphate from dna 5'-end, which arises from abortive ligation by dna ligases. |
2023-03-20 |
2023-08-14 |
human |
| Petra Aboulhosn, Andrew Ryu, Azadeh Shafieesabet, Anusha Lekshminarayanan, Sohni Husain, Kathryn O'Connor, Saarah D'Souza, Shannon O'Neill, Eric L Altschule. Partial Balint's syndrome and left homonymous hemianopsia presenting after resection of a right occipito-parietal glioblastoma. Neurocase. 2023-02-16. PMID:36794351. |
he presented with symptoms of horizontal oculomotor apraxia, contralateral optic ataxia and left homonymous hemianopsia. |
2023-02-16 |
2023-08-14 |
Not clear |
| Petra Aboulhosn, Andrew Ryu, Azadeh Shafieesabet, Anusha Lekshminarayanan, Sohni Husain, Kathryn O'Connor, Saarah D'Souza, Shannon O'Neill, Eric L Altschule. Partial Balint's syndrome and left homonymous hemianopsia presenting after resection of a right occipito-parietal glioblastoma. Neurocase. 2023-02-16. PMID:36794351. |
we diagnosed this patient with partial bálint's syndrome (bs)- oculomotor apraxia, optic ataxia but not simultanagnosia. |
2023-02-16 |
2023-08-14 |
Not clear |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes. Cerebellum (London, England). 2023-01-14. PMID:36640220. |
quantitative oculomotor assessment in hereditary ataxia: discriminatory power, correlation with severity measures, and recommended parameters for specific genotypes. |
2023-01-14 |
2023-08-14 |
Not clear |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes. Cerebellum (London, England). 2023-01-14. PMID:36640220. |
characterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. |
2023-01-14 |
2023-08-14 |
Not clear |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes. Cerebellum (London, England). 2023-01-14. PMID:36640220. |
recurrent correlations across many ataxias (sca2/3/17, frda, npc) suggest saccadic eye movements as potentially generic quantitative oculomotor outcome. |
2023-01-14 |
2023-08-14 |
Not clear |
| Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh, Laura B Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A Tarnutze. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes. Cerebellum (London, England). 2023-01-14. PMID:36640220. |
this work aids in understanding the current knowledge of quantitative oculomotor parameters in hereditary ataxias, and identifies gaps for validation as potential trial outcome measures in specific ataxia genotypes. |
2023-01-14 |
2023-08-14 |
Not clear |
| Shuaishuai Chen, Juping Du, Huihua Jiang, Weibo Zhao, Na Wang, Anna Ying, Jun Li, Shiyong Chen, Bo Shen, Yuanlin Zho. Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review. Frontiers in molecular neuroscience. vol 15. 2022-11-28. PMID:36438189. |
ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in setx gene, and literature review. |
2022-11-28 |
2023-08-14 |
Not clear |
| Shuaishuai Chen, Juping Du, Huihua Jiang, Weibo Zhao, Na Wang, Anna Ying, Jun Li, Shiyong Chen, Bo Shen, Yuanlin Zho. Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review. Frontiers in molecular neuroscience. vol 15. 2022-11-28. PMID:36438189. |
autosomal recessive inherited ataxia with oculomotor apraxia type 2 (aoa2), caused by |
2022-11-28 |
2023-08-14 |
Not clear |
| Raidah Albaradie, Alanoud Alharbi, Gada Alsaffar, Bayader Alhamad, Shahid Bashi. Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review. Experimental and therapeutic medicine. vol 24. issue 6. 2022-11-16. PMID:36382100. |
ataxia with oculomotor apraxia type 1 associated with mutation in the aptx gene: a case study and literature review. |
2022-11-16 |
2023-08-14 |
Not clear |
| Raidah Albaradie, Alanoud Alharbi, Gada Alsaffar, Bayader Alhamad, Shahid Bashi. Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review. Experimental and therapeutic medicine. vol 24. issue 6. 2022-11-16. PMID:36382100. |
ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal recessive disease presenting with early-onset and slowly progressing cerebellar ataxia, areflexia and peripheral axonal neuropathy. |
2022-11-16 |
2023-08-14 |
Not clear |
| Hamed Azami, Zhuoqing Chang, Steven E Arnold, Guillermo Sapiro, Anoopum S Gupt. Detection of Oculomotor Dysmetria From Mobile Phone Video of the Horizontal Saccades Task Using Signal Processing and Machine Learning Approaches. IEEE access : practical innovations, open solutions. vol 10. 2022-11-07. PMID:36339795. |
these results show that the combination of signal processing and machine learning approaches applied to iphone video of saccades, allow for extraction of information pertaining to oculomotor dysmetria in ataxia. |
2022-11-07 |
2023-08-14 |
human |
| Hamed Azami, Zhuoqing Chang, Steven E Arnold, Guillermo Sapiro, Anoopum S Gupt. Detection of Oculomotor Dysmetria From Mobile Phone Video of the Horizontal Saccades Task Using Signal Processing and Machine Learning Approaches. IEEE access : practical innovations, open solutions. vol 10. 2022-11-07. PMID:36339795. |
overall, this inexpensive and scalable approach for capturing important oculomotor information may be a useful component of a screening tool for ataxia and could allow frequent at-home assessments of oculomotor function in natural history studies and clinical trials. |
2022-11-07 |
2023-08-14 |
human |