| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ronald A M Buijsen, Lodewijk J A Toonen, Sarah L Gardiner, Willeke M C van Roon-Mo. Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 2. 2020-01-09. PMID:30607747. |
all adcas have progressive ataxia as their main clinical feature, frequently accompanied by dysarthria and oculomotor deficits. |
2020-01-09 |
2023-08-13 |
Not clear |
| Olivier J Becherel, Brent L Fogel, Scott I Zeitlin, Hemamali Samaratunga, Jessica Greaney, Hayden Homer, Martin F Lavi. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30778901. |
disruption of spermatogenesis and infertility in ataxia with oculomotor apraxia type 2 (aoa2). |
2019-12-06 |
2023-08-13 |
mouse |
| Olivier J Becherel, Brent L Fogel, Scott I Zeitlin, Hemamali Samaratunga, Jessica Greaney, Hayden Homer, Martin F Lavi. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30778901. |
ataxia with oculomotor apraxia type 2 (aoa2) is a rare autosomal recessive cerebellar ataxia characterized by onset between 10 and 20 years of age and a range of neurological features that include progressive cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia in a majority of patients, and elevated serum alpha-fetoprotein (afp). |
2019-12-06 |
2023-08-13 |
mouse |
| Jin Zheng, Deborah L Croteau, Vilhelm A Bohr, Mansour Akbar. Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells. Nucleic acids research. vol 47. issue 8. 2019-11-25. PMID:30986824. |
ataxia with oculomotor apraxia type 1 (aoa1) is an early onset progressive spinocerebellar ataxia caused by mutation in aprataxin (aptx). |
2019-11-25 |
2023-08-13 |
Not clear |
| Velioglu, Kuzeyli, Zzmenogl. Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. European journal of neurology. vol 5. issue 5. 2019-11-20. PMID:10210881. |
clinical features included ataxia of limbs, gait and stance, cerebellar oculomotor signs. |
2019-11-20 |
2023-08-12 |
Not clear |
| A A Mhanni, J N Hartley, E Harward, E Spriggs, F Boot. Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population. Clinical genetics. vol 89. issue 4. 2019-11-20. PMID:26332941. |
ataxia with oculomotor apraxia type 2 in the canadian aboriginal population. |
2019-11-20 |
2023-08-13 |
Not clear |
| Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, Steffen Uebe, Christian T Thiel, Heinrich Sticht, Martin Berghoff, Corinna Berghoff, Bernal Morera, Michael Meisterernst, André Rei. The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. vol 19. issue 4. 2019-09-25. PMID:30039206. |
it encodes a dna repair protein recently associated with recessive ataxia with oculomotor apraxia type 4 (aoa4) and microcephaly, seizures, and developmental delay (mcsz). |
2019-09-25 |
2023-08-13 |
human |
| Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, Abderrahim M'Zahem, Lamia Ali Pacha, Meriem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Kuntzer, Hans H Jung, Jean-Marie Beis, Jean-Claude Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard Walsh, Sinead Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll-The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, Pierre Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Koenig, Mathieu Anhei. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA neurology. vol 75. issue 4. 2019-09-10. PMID:29356829. |
clinical, biomarker, and molecular delineations and genotype-phenotype correlations of ataxia with oculomotor apraxia type 1. |
2019-09-10 |
2023-08-13 |
Not clear |
| Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, Abderrahim M'Zahem, Lamia Ali Pacha, Meriem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Kuntzer, Hans H Jung, Jean-Marie Beis, Jean-Claude Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard Walsh, Sinead Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll-The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, Pierre Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Koenig, Mathieu Anhei. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA neurology. vol 75. issue 4. 2019-09-10. PMID:29356829. |
ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (aptx) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels. |
2019-09-10 |
2023-08-13 |
Not clear |
| Chiara Di Nuzzo, Fabiana Ruggiero, Francesca Cortese, Ilaria Cova, Alberto Priori, Roberta Ferrucc. Non-invasive Cerebellar Stimulation in Cerebellar Disorders. CNS & neurological disorders drug targets. vol 17. issue 3. 2019-07-11. PMID:29623859. |
in the presence of cerebellar dysfunction, several movement disorders, such as kinetic tremor, ataxia of gait, limb dysmetria and oculomotor deficits, become progressively more disabling in daily life, and no pharmacological treatments currently exist. |
2019-07-11 |
2023-08-13 |
human |
| L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anhei. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. Scientific reports. vol 7. issue 1. 2019-07-03. PMID:29127364. |
comparing ataxias with oculomotor apraxia: a multimodal study of aoa1, aoa2 and at focusing on video-oculography and alpha-fetoprotein. |
2019-07-03 |
2023-08-13 |
human |
| L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anhei. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. Scientific reports. vol 7. issue 1. 2019-07-03. PMID:29127364. |
whether the recessive ataxias, ataxia with oculomotor apraxia type 1 (aoa1) and 2 (aoa2) and ataxia telangiectasia (at), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. |
2019-07-03 |
2023-08-13 |
human |
| L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anhei. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. Scientific reports. vol 7. issue 1. 2019-07-03. PMID:29127364. |
our findings are that aoa1, aoa2 and at form a particular group characterized by ataxia with complex oculomotor disturbances and elevated afp for which the final diagnosis is relying on genetic analysis. |
2019-07-03 |
2023-08-13 |
human |
| G E Rudenskaya, E I Surkova, F A Konovalo. [Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 118. issue 3. 2019-06-10. PMID:29652299. |
[ataxia with oculomotor apraxia type 4 detected by next-generation sequencing]. |
2019-06-10 |
2023-08-13 |
Not clear |
| G E Rudenskaya, E I Surkova, F A Konovalo. [Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 118. issue 3. 2019-06-10. PMID:29652299. |
ataxias with oculomotor apraxia (aoa) belong to autosomal recessive ataxias. |
2019-06-10 |
2023-08-13 |
Not clear |
| G E Rudenskaya, E I Surkova, F A Konovalo. [Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 118. issue 3. 2019-06-10. PMID:29652299. |
he presented with ataxia since 2 years and deterioration in 8 years, oculomotor apraxia, dystonic hyperkinesia, dysarthria, polyneuropathy, borderline/mildly impaired intelligence, cerebellar atrophy on mri and moderate hypercholesterolemia. |
2019-06-10 |
2023-08-13 |
Not clear |
| C Mancini, E Giorgio, A Rubegni, L Pradotto, S Bagnoli, E Rubino, P Prontera, S Cavalieri, E Di Gregorio, M Ferrero, E Pozzi, E Riberi, P Ferrero, P Nigro, A Mauro, M Zibetti, A Tessa, M Barghigiani, A Antenora, F Sirchia, S Piacentini, G Silvestri, G De Michele, A Filla, L Orsi, F M Santorelli, A Brusc. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. European journal of neurology. vol 26. issue 1. 2019-06-03. PMID:30098094. |
hereditary ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndromes associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. |
2019-06-03 |
2023-08-13 |
Not clear |
| Solène Ronsin, Salem Hannoun, Stéphane Thobois, Philippe Petiot, Alain Vighetto, François Cotton, Caroline Tiliket. A new MRI marker of ataxia with oculomotor apraxia. European journal of radiology. vol 110. 2019-03-04. PMID:30599859. |
a new mri marker of ataxia with oculomotor apraxia. |
2019-03-04 |
2023-08-13 |
Not clear |
| Tülay Kamaşak, Sibel Kul, Mustafa Tuşat, Nezir Ozgun, Ali Cans. A Case of Wernicke Encephalopathy Developing After Ileal Bypass Surgery. Pediatric emergency care. vol 34. issue 12. 2019-01-11. PMID:29596284. |
wernicke encephalopathy is an acute neurological problem resulting from thiamine deficiency and manifesting with mental confusion, oculomotor dysfunction, and ataxia. |
2019-01-11 |
2023-08-13 |
Not clear |
| W Ilg, M Branscheidt, A Butala, P Celnik, L de Paola, F B Horak, L Schöls, H A G Teive, A P Vogel, D S Zee, D Timman. Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice. Cerebellum (London, England). vol 17. issue 5. 2018-11-06. PMID:29656311. |
the authors agree that detailed clinical examination reveals core features of ataxia (i.e., dysarthria, truncal, gait and limb ataxia, oculomotor dysfunction) and is sufficient for formulating a differential diagnosis. |
2018-11-06 |
2023-08-13 |
Not clear |