| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
ataxia with oculomotor apraxia (aoa1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. |
2021-11-15 |
2023-08-13 |
Not clear |
| Francien A Vogelaar, Rick Brandsma, Natasha M Maurits, Deborah A Siva. Applicability of quantitative oculomotor and SARA assessment in children. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 35. 2021-11-11. PMID:34610562. |
however, quantitative oculomotor assessment is not included in the most frequently used and age-validated ataxia rating scale in children, the scale for the assessment and rating of ataxia (sara). |
2021-11-11 |
2023-08-13 |
Not clear |
| Nicolas Mary, Anne Calgaro, Harmonie Barasc, Nathalie Bonnet, Stéphane Ferchaud, Isabelle Raymond-Letron, Alain Ducos, Alain Pinto. Meiotic Silencing in Pigs: A Case Study in a Translocated Azoospermic Boar. Genes. vol 12. issue 8. 2021-11-08. PMID:34440311. |
additionally, γh2ax signals were observed on apparently synapsed autosomes other than the ssc1 or ssc15, as previously observed in ataxia with oculomotor apraxia type 2 patients or knock-out mice for the senataxin gene. |
2021-11-08 |
2023-08-13 |
mouse |
| T Benke, F Dazinger, R Pechlaner, K Willeit, J Clausen, M Knoflac. Lesion topography of posterior cerebral artery infarcts. Journal of the neurological sciences. vol 428. 2021-10-05. PMID:34371243. |
consistent with this lesion pattern, visual field defects (vfd) were the most frequent signs, followed by sensorimotor signs, dizziness and sopor, cognitive and oculomotor deficits, and ataxia. |
2021-10-05 |
2023-08-13 |
human |
| Mohammed A Al-Muhaizea, Hanouf Aldeeb, Rawan Almass, Hadeel Jaber, Felwa Binhumaid, Laila Alquait, Musaad Abukhalid, Hesham Aldhalaan, Maysoon Alsagob, Albandary Al-Bakheet, Mazhor Aldosary, Hadeel Alkofide, Maha M Alrasheed, Dilek Colak, Namik Kay. Genetics of ataxia telangiectasia in a highly consanguineous population. Annals of human genetics. 2021-09-28. PMID:34582042. |
it usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed movement disorders. |
2021-09-28 |
2023-08-13 |
Not clear |
| Yasuhisa Sakurai, Toshiyuki Kakumoto, Yuto Takenaka, Hideyuki Matsumot. Asymmetric Bálint's syndrome with multimodal agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading due to subcortical hemorrhage in the left parieto-occipito-temporal area. Neurocase. vol 26. issue 6. 2021-09-22. PMID:33103577. |
we report a patient with asymmetric bálint's syndrome (predominantly right-sided oculomotor apraxia and simultanagnosia and optic ataxia for the right hemispace), and multimodal agnosia (apperceptive visual agnosia and bilateral associative tactile agnosia) with accompanying right hemianopia, bilateral agraphesthesia, hemispatial neglect, global alexia with unavailable kinesthetic reading, and lexical agraphia for kanji (japanese morphograms), after hemorrhage in the left parieto-occipito-temporal area. |
2021-09-22 |
2023-08-13 |
Not clear |
| Gulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime G Temel, Mahmut Cerkez Ergore. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes. vol 12. issue 6. 2021-09-21. PMID:34205586. |
here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. |
2021-09-21 |
2023-08-13 |
Not clear |
| A Bargagli, F Rosini, D Zanca, V Serchi, A Ruf. Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 42. issue 7. 2021-07-28. PMID:33770309. |
ataxia with oculomotor apraxia type 2 (aoa2): an eye movement study of two siblings. |
2021-07-28 |
2023-08-13 |
Not clear |
| Craig L Bennett, Albert R La Spad. SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease. Molecular genetics & genomic medicine. 2021-07-15. PMID:34263556. |
setx mutations underlie two inherited neurodegenerative diseases: ataxia with oculomotor apraxia type 2 (aoa2) and amyotrophic lateral sclerosis type 4 (als4). |
2021-07-15 |
2023-08-13 |
Not clear |
| Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbho. Heterozygous deletion in exon 6 of BMJ case reports. vol 14. issue 6. 2021-07-02. PMID:34193451. |
heterozygous deletion in exon 6 of ataxia with oculomotor apraxia type 2 (aoa2), recently renamed as atx-setx, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. |
2021-07-02 |
2023-08-13 |
Not clear |
| Nidaa A Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdulla M Alzibdeh, Asim N Khanfar, Ahmad M Altantawi, Abdee T Ryalat, Basil Sharrack, Abdalla Awid. Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. Stem cell research. vol 48. 2021-06-21. PMID:32769066. |
generation and characterization of induced pluripotent stem cell (ipsc) line (juctci002-a) from a patient with ataxia with oculomotor apraxia type 1 (aoa1) harboring a homozygous mutation in the aptx gene. |
2021-06-21 |
2023-08-13 |
Not clear |
| Nidaa A Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdulla M Alzibdeh, Asim N Khanfar, Ahmad M Altantawi, Abdee T Ryalat, Basil Sharrack, Abdalla Awid. Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. Stem cell research. vol 48. 2021-06-21. PMID:32769066. |
ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. |
2021-06-21 |
2023-08-13 |
Not clear |
| Bettina Balint, Vittorio Rispoli, Anna Latorre, Kailash P Bhati. Ataxia with Oculomotor Apraxia Type 1-New Mutation, Characteristic Phenotype. Movement disorders clinical practice. vol 6. issue 3. 2021-05-20. PMID:33999976. |
ataxia with oculomotor apraxia type 1-new mutation, characteristic phenotype. |
2021-05-20 |
2023-08-13 |
Not clear |
| Benedetta Storti, Diletta Cereda, Claudia Balducci, Francesco Santangelo, Carlo Ferrarese, Ildebrando Appolloni. Who is really blind in the time of coronavirus: the patient or the doctor? A rare case of Balint's syndrome. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 42. issue 5. 2021-05-14. PMID:33400067. |
selective bilateral lesions of the parietal-occipital lobes can lead to an uncommon and incompletely understood clinical entity, balint' syndrome, which consists of simultanagnosia, oculomotor apraxia, optic ataxia and difficulty in perceiving distances between objects. |
2021-05-14 |
2023-08-13 |
Not clear |
| Mathilde Renaud, Christine Tranchant, Michel Koenig, Mathieu Anhei. Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker. Movement disorders : official journal of the Movement Disorder Society. vol 35. issue 12. 2021-04-27. PMID:33044027. |
alpha-fetoprotein (afp) is a biomarker of several autosomal recessive cerebellar ataxias (arcas), especially ataxia telangiectasia (at) and ataxia with oculomotor apraxia (aoa) type 2 (aoa2). |
2021-04-27 |
2023-08-13 |
Not clear |
| Heike Jacobi, Martina Minnero. [Adult-onset ataxias]. Der Nervenarzt. vol 92. issue 4. 2021-04-09. PMID:33751151. |
early symptoms are usually a progressive ataxia of gait and stance, followed by limb ataxia, cerebellar dysarthria and oculomotor disturbances. |
2021-04-09 |
2023-08-13 |
Not clear |
| Eduardo Freitas, Octávia Costa, Sofia Roch. A New Phenotype of Ataxia With Oculomotor Apraxia Type 4. Cureus. vol 13. issue 2. 2021-03-05. PMID:33654647. |
a new phenotype of ataxia with oculomotor apraxia type 4. |
2021-03-05 |
2023-08-13 |
Not clear |
| Eduardo Freitas, Octávia Costa, Sofia Roch. A New Phenotype of Ataxia With Oculomotor Apraxia Type 4. Cureus. vol 13. issue 2. 2021-03-05. PMID:33654647. |
ataxia with oculomotor apraxia is a rare neurodegenerative subgroup of diseases with manifestations that include cerebellar ataxia, oculomotor apraxia, extrapyramidal features, and sensorimotor neuropathy. |
2021-03-05 |
2023-08-13 |
Not clear |
| Eduardo Freitas, Octávia Costa, Sofia Roch. A New Phenotype of Ataxia With Oculomotor Apraxia Type 4. Cureus. vol 13. issue 2. 2021-03-05. PMID:33654647. |
in 2015, ataxia with oculomotor apraxia type 4 was described in 11 portuguese individuals. |
2021-03-05 |
2023-08-13 |
Not clear |
| Eduardo Freitas, Octávia Costa, Sofia Roch. A New Phenotype of Ataxia With Oculomotor Apraxia Type 4. Cureus. vol 13. issue 2. 2021-03-05. PMID:33654647. |
two new mutations in the pnkp gene were detected in both sisters, confirming the diagnosis of ataxia with oculomotor apraxia. |
2021-03-05 |
2023-08-13 |
Not clear |