| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Craig L Bennett, Albert R La Spad. Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration. Advances in neurobiology. vol 20. 2018-10-25. PMID:29916023. |
genetic discoveries have established the importance of setx for neural function, as recessive mutations in the setx gene cause ataxia with oculomotor apraxia type 2 (aoa2) (omim: 606002), which is the third most common form of recessive ataxia, after friedreich's ataxia and ataxia-telangiectasia. |
2018-10-25 |
2023-08-13 |
Not clear |
| Christos Ganos, Jose Bra. Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway. Movement disorders : official journal of the Movement Disorder Society. vol 32. issue 5. 2018-10-11. PMID:28276091. |
ataxia with oculomotor apraxia is associated with the dna damage repair pathway. |
2018-10-11 |
2023-08-13 |
Not clear |
| Mario Manto, Christiane S Hamp. Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia. Handbook of clinical neurology. vol 155. 2018-10-01. PMID:29891071. |
disturbances of thyroid hormone may also impact on cerebellar ataxias of other origin, decompensating or aggravating the pre-existing ataxia manifesting with motor ataxia, oculomotor ataxia, and/or schmahmann syndrome. |
2018-10-01 |
2023-08-13 |
Not clear |
| Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlde. Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. Practical neurology. vol 18. issue 1. 2018-08-20. PMID:29212862. |
ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. |
2018-08-20 |
2023-08-13 |
Not clear |
| Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlde. Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. Practical neurology. vol 18. issue 1. 2018-08-20. PMID:29212862. |
after extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. |
2018-08-20 |
2023-08-13 |
Not clear |
| Sarah Cohen, Nadine Puget, Yea-Lih Lin, Thomas Clouaire, Marion Aguirrebengoa, Vincent Rocher, Philippe Pasero, Yvan Canitrot, Gaëlle Legub. Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations. Nature communications. vol 9. issue 1. 2018-05-09. PMID:29416069. |
ataxia with oculomotor apraxia 2 (aoa-2) and amyotrophic lateral sclerosis (als4) are neurological disorders caused by mutations in the gene encoding for senataxin (setx), a putative rna:dna helicase involved in transcription and in the maintenance of genome integrity. |
2018-05-09 |
2023-08-13 |
Not clear |
| Carlo Canepa, Ben Burton, Abdul Muhit. An elusive ciliopathy: Joubert syndrome. BMJ case reports. vol 2017. 2018-04-09. PMID:28667057. |
neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular reflex, (4) mild ataxia and (5) mild hypotonia. |
2018-04-09 |
2023-08-13 |
Not clear |
| Sarah Anne Cooper, Michael O'Sulliva. Here, there and everywhere: higher visual function and the dorsal visual stream. Practical neurology. vol 16. issue 3. 2018-03-29. PMID:26786007. |
here, we consider the dorsal stream disorders of perception (simultanagnosia, akinetopsia) along with their consequences on action (eg, optic ataxia and oculomotor apraxia, along with balint's syndrome). |
2018-03-29 |
2023-08-13 |
human |
| Nicoline Schiess, David S Zee, Khurram A Siddiqui, Miklos Szolics, Ayman W El-Hatta. Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. Journal of neurogenetics. vol 31. issue 1-2. 2018-03-16. PMID:28552035. |
the phenotypic and genetic spectrum of ataxia with oculomotor apraxia (aoa) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. |
2018-03-16 |
2023-08-13 |
Not clear |
| Makito Hirano, Ryusuke Matsumura, Yusaku Nakamura, Kazumasa Saigoh, Hikaru Sakamoto, Shuichi Ueno, Hiroya Inoue, Susumu Kusunok. Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene. Journal of the neurological sciences. vol 378. 2018-03-14. PMID:28566184. |
early onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh)/ataxia with oculomotor apraxia 1 (aoa1) is an autosomal recessive disorder caused by mutations in the aptx gene. |
2018-03-14 |
2023-08-13 |
Not clear |
| Jingga Inlora, M Reza Sailani, Hamidreza Khodadadi, Ahmad Teymurinezhad, Shinichi Takahashi, Jonathan A Bernstein, Masoud Garshasbi, Michael P Snyde. Identification of a novel mutation in the Cold Spring Harbor molecular case studies. vol 3. issue 6. 2018-01-01. PMID:28652255. |
to this end, we conducted whole-exome sequencing (wes) on a large consanguineous iranian family with hereditary ataxia and oculomotor apraxia. |
2018-01-01 |
2023-08-13 |
Not clear |
| Saumitra Dey Choudhury, Ancy Vs, Zeeshan Mushtaq, Vimlesh Kuma. Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation. Synapse (New York, N.Y.). vol 71. issue 5. 2017-12-22. PMID:28245518. |
mutations in senataxin (setx) gene causes two types of neurological disorders, amyotrophic lateral sclerosis (als4) and ataxia with oculomotor apraxia type 2 (aoa2). |
2017-12-22 |
2023-08-13 |
human |