| 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: 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 |
| Xuan Wu, Nan Dong, Zhensheng Liu, Tieyu Tang, Meirong Li. Case report: A novel Frontiers in neurology. vol 13. 2022-09-19. PMID:36119692. |
case report: a novel ataxia with oculomotor apraxia type 1 (aoa1) is a rare genetic disorder and is inherited in an autosomal recessive manner. |
2022-09-19 |
2023-08-14 |
Not clear |
| Sophia Caldas Gonzaga da Costa, Flávio C de Rezende-Filho, Júlian Leticia de Freitas, Paula Camila Alves de Assis Pereira Matos, Bruno Della-Ripa, Marcondes Cavalcante França, Wilson Marques, Mariana Santos, Igor Vasconcelos Barros Cronemberger, Thiago Cardoso Vale, Fernando Kok, Isabel Alonso, José Luiz Pedroso, Orlando G P Barsottin. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Movement disorders : official journal of the Movement Disorder Society. 2022-04-15. PMID:35426160. |
clinical and genetic characterization of brazilian patients with ataxia and oculomotor apraxia. |
2022-04-15 |
2023-08-13 |
Not clear |
| Sophia Caldas Gonzaga da Costa, Flávio C de Rezende-Filho, Júlian Leticia de Freitas, Paula Camila Alves de Assis Pereira Matos, Bruno Della-Ripa, Marcondes Cavalcante França, Wilson Marques, Mariana Santos, Igor Vasconcelos Barros Cronemberger, Thiago Cardoso Vale, Fernando Kok, Isabel Alonso, José Luiz Pedroso, Orlando G P Barsottin. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Movement disorders : official journal of the Movement Disorder Society. 2022-04-15. PMID:35426160. |
ataxia with oculomotor apraxia (aoa) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. |
2022-04-15 |
2023-08-13 |
Not clear |
| Panagiotis Kassavetis, Diego Kaski, Tim Anderson, Mark Hallet. Eye Movement Disorders in Movement Disorders. Movement disorders clinical practice. vol 9. issue 3. 2022-04-11. PMID:35402641. |
in ataxia, nystagmus is common, but other findings such as oculomotor apraxia, supranuclear gaze palsy, impaired fixation, or saccadic pursuit can contribute to diagnoses such as ataxia with oculomotor apraxia, niemann-pick type c, or ataxia telangiectasia. |
2022-04-11 |
2023-08-13 |
Not clear |
| Mariana Santos, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, José Barros, José Brás, Jorge Sequeiros, Rita Guerreir. Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia. Cells. vol 11. issue 6. 2022-03-25. PMID:35326432. |
a phenotypic classification was performed, considering the main clinical syndromes: spastic ataxia, ataxia and neuropathy, ataxia and oculomotor apraxia (aoa), ataxia and dystonia, and ataxia with cognitive impairment. |
2022-03-25 |
2023-08-13 |
Not clear |
| Ping-I Chiang, Ting-Wei Liao, Chiung-Mei Che. A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review. Brain sciences. vol 12. issue 2. 2022-02-25. PMID:35203940. |
ataxia with oculomotor apraxia type 2 (aoa2), also known as autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (scan2) (omim #606002), is a neurodegenerative disorder characterized by early-onset progressive cerebellar ataxia, polyneuropathy, and elevated levels of alpha-fetoprotein. |
2022-02-25 |
2023-08-13 |
Not clear |
| Simra Javaid, Amanda Lindenberg, Rajashree Srinivasa. Can the ketogenic diet lead to Wernicke's encephalopathy? Journal of pediatric rehabilitation medicine. 2022-02-11. PMID:35147570. |
the classic triad of mental status changes, oculomotor abnormality, and ataxia is observed in only 16-21% of all pediatric presentations. |
2022-02-11 |
2023-08-13 |
Not clear |
| Radhakrishnan Kanagaraj, Richard Mitter, Theodoros Kantidakis, Matthew M Edwards, Anaid Benitez, Probir Chakravarty, Beiyuan Fu, Olivier Becherel, Fengtang Yang, Martin F Lavin, Amnon Koren, Aengus Stewart, Stephen C Wes. Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2. Proceedings of the National Academy of Sciences of the United States of America. vol 119. issue 4. 2022-01-19. PMID:35042798. |
integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2. |
2022-01-19 |
2023-08-13 |
Not clear |
| Aristides Hadjinicolaou, Kathie J Ngo, Daniel Y Conway, John P Provias, Steven K Baker, Lauren I Brady, Craig L Bennett, Albert R La Spada, Brent L Fogel, Grace Yoo. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta neuropathologica communications. vol 9. issue 1. 2021-12-19. PMID:34922620. |
pathogenic variants in setx cause two distinct neurological diseases, a loss-of-function recessive disorder, ataxia with oculomotor apraxia type 2 (aoa2), and a dominant gain-of-function motor neuron disorder, amyotrophic lateral sclerosis type 4 (als4). |
2021-12-19 |
2023-08-13 |
mouse |
| Michael D Perry, Martin J Evans, Philip J Byrd, Malcolm R Taylo. Biallelic Mutation of Journal of pediatric genetics. vol 10. issue 4. 2021-12-03. PMID:34849277. |
biallelic mutation of ataxia with oculomotor apraxia type 2 (aoa2) is a slowly progressive, autosomal recessive disease characterized by the triad of ataxia, oculomotor apraxia, and sensorimotor neuropathy. |
2021-12-03 |
2023-08-13 |
Not clear |
| G N Subramanian, M Lavin, H A Home. Premature ovarian ageing following heterozygous loss of Senataxin. Molecular human reproduction. vol 27. issue 2. 2021-11-17. PMID:33337500. |
homozygous mutation of setx leads to the neurodegenerative disorder, ataxia oculomotor apraxia type 2 (aoa2). |
2021-11-17 |
2023-08-13 |
mouse |
| José Luiz Pedroso, Thiago Cardoso Vale, Sophia Caldas Gonzaga da Costa, Mariana Santos, Isabel Alonso, Orlando Graziani Povoas Barsottin. Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome. Tremor and other hyperkinetic movements (New York, N.Y.). vol 10. 2021-11-15. PMID:33101765. |
complex movement disorders in ataxia with oculomotor apraxia type 1: beyond the cerebellar syndrome. |
2021-11-15 |
2023-08-13 |
Not clear |