| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
with these clinical cases, we attempt to raise awareness of the possibility of different phenotypes of this rare disease, expanding the spectrum of manifestations of ataxia with oculomotor apraxia type 4. |
2021-03-05 |
2023-08-13 |
Not clear |
| Pierre Cabaraux, Jordi Gandini, Shinji Kakei, Mario Manto, Hiroshi Mitoma, Hirokazu Tanak. Dysmetria and Errors in Predictions: The Role of Internal Forward Model. International journal of molecular sciences. vol 21. issue 18. 2021-02-26. PMID:32962256. |
the terminology of cerebellar dysmetria embraces a ubiquitous symptom in motor deficits, oculomotor symptoms, and cognitive/emotional symptoms occurring in cerebellar ataxias. |
2021-02-26 |
2023-08-13 |
human |
| Padma John Pramila, Pavithra Mannam, Ari George Chacko, Rohit Ninan Benjami. Progressive midbrain clefts after head trauma and decompressive surgery: a report of two patients. BMJ case reports. vol 14. issue 2. 2021-02-22. PMID:33526531. |
this report describes two patients with acute-onset ptosis, oculomotor dysfunction, ataxia and drowsiness, referable to the midbrain tegmentum. |
2021-02-22 |
2023-08-13 |
Not clear |
| Huma Tariq, Iqra Tariq, Thomas Bourinaris, Henry Houlden, Sadaf Na. Some pathogenic SETX variants are partially conserved during evolution. Gene. vol 771. 2021-01-21. PMID:33333218. |
variants in setx have been implicated in recessively and dominantly inherited disorders, ataxia with oculomotor apraxia type 2 (aoa2 omim# 606002) and amyotrophic lateral sclerosis (als4, omim# 602433) respectively, in humans. |
2021-01-21 |
2023-08-13 |
Not clear |
| Huma Tariq, Iqra Tariq, Thomas Bourinaris, Henry Houlden, Sadaf Na. Some pathogenic SETX variants are partially conserved during evolution. Gene. vol 771. 2021-01-21. PMID:33333218. |
we report two novel bi-allelic pathogenic variants in setx in patients suffering from ataxia with oculomotor apraxia type 2, extending the allelic spectrum of the gene variants. |
2021-01-21 |
2023-08-13 |
Not clear |
| Meriam Benzalim, Soumaya Arharas, Soumaya Alj, Youssef Elouardi, Mohamed Khallouk. Gayet Wernicke's encephalopathy with cortical damage following a subtotal gastrectomy: An uncommon association. Radiology case reports. vol 16. issue 1. 2020-11-19. PMID:33204379. |
classically it manifests by confusion with oculomotor disorders and ataxia. |
2020-11-19 |
2023-08-13 |
Not clear |
| Kaima Tsukada, Yoshihisa Matsumoto, Mikio Shimad. Linker region is required for efficient nuclear localization of polynucleotide kinase phosphatase. PloS one. vol 15. issue 9. 2020-11-05. PMID:32970693. |
mutations in pnkp gene causes inherited diseases, such as microcephaly and seizure (mcsz) by neural developmental failure and ataxia with oculomotor apraxia 4 (aoa4) and charcot-marie-tooth disease 2b2 (cmt2b2) by neurodegeneration. |
2020-11-05 |
2023-08-13 |
Not clear |
| Nidaa A Ababneh, Dema Ali, Ban Al-Kurdi, Malik Sallam, Abdulla M Alzibdeh, Bareqa Salah, Abdee T Ryalat, Belal Azab, Basil Sharrack, Abdalla Awid. Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. PloS one. vol 15. issue 8. 2020-10-09. PMID:32750061. |
ataxia with oculomotor apraxia type 1 (aoa1) is a rare autosomal recessive cerebellar ataxia, caused by mutations in the aptx gene. |
2020-10-09 |
2023-08-13 |
Not clear |