| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Minwoo Lee, Nan Young Kim, Jin Young Huh, Young Eun Kim, Yun Joong Ki. Erratum to: Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report. Journal of clinical neurology (Seoul, Korea). vol 13. issue 1. 2020-10-01. PMID:28079319. |
erratum to: ataxia with oculomotor apraxia type 1 without oculomotor apraxia: a case report. |
2020-10-01 |
2023-08-13 |
Not clear |
| Florian Brugger, Michael Schüpbach, Michel Koenig, René Müri, Stephan Bohlhalter, Alain Kaelin-Lang, Christian P Kamm, Georg Käg. The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2. Movement disorders clinical practice. vol 1. issue 2. 2020-10-01. PMID:30363866. |
the clinical spectrum of ataxia with oculomotor apraxia type 2. |
2020-10-01 |
2023-08-13 |
Not clear |
| Florian Brugger, Michael Schüpbach, Michel Koenig, René Müri, Stephan Bohlhalter, Alain Kaelin-Lang, Christian P Kamm, Georg Käg. The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2. Movement disorders clinical practice. vol 1. issue 2. 2020-10-01. PMID:30363866. |
ataxia with oculomotor apraxia type 2 (aoa2) is an inherited disorder caused by mutations within both alleles of the senataxin gene. |
2020-10-01 |
2023-08-13 |
Not clear |
| Maria Chiara D'Amico, Iole Borrelli, Holta Zhuzhuni, Aurelio D'Amico, Roberta Di Giacomo, Luca Mancinelli, Valeria di Tommaso, Antonio Di Muzio, Marco Onofr. Holmes-Like Tremor in Ataxia With Oculomotor Apraxia Type 2. Movement disorders clinical practice. vol 1. issue 3. 2020-10-01. PMID:30713863. |
holmes-like tremor in ataxia with oculomotor apraxia type 2. |
2020-10-01 |
2023-08-13 |
Not clear |
| Humera Manzoor, Ihtisham Bukhari, Muhammad Wajid, Yuanwei Zhang, Huan Zhang, Norbert Brüggemann, Christine Klein, Qinghua Shi, Sadaf Na. A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1. Journal of clinical neurology (Seoul, Korea). vol 13. issue 3. 2020-09-30. PMID:28516743. |
a novel aptx variant and ataxia with oculomotor apraxia type 1. |
2020-09-30 |
2023-08-13 |
Not clear |
| Huma Tariq, Rashid Imran, Sadaf Na. A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. Journal of clinical neurology (Seoul, Korea). vol 14. issue 4. 2020-09-30. PMID:30198223. |
a novel homozygous variant of setx causes ataxia with oculomotor apraxia type 2. |
2020-09-30 |
2023-08-13 |
Not clear |
| Galina E Rudenskaya, Andrey V Marakhonov, Olga A Shchagina, Ekaterina R Lozier, Elena L Dadali, Irina A Akimova, Nika V Petrova, Fedor A Konovalo. Ataxia with Oculomotor Apraxia Type 4 with Journal of pediatric genetics. vol 8. issue 2. 2020-09-30. PMID:31061747. |
ataxia with oculomotor apraxia type 4 with ataxia with oculomotor apraxia type 4 (aoa4) is a rare autosomal recessive, |
2020-09-30 |
2023-08-13 |
Not clear |
| Parvaneh Karimzadeh, Simin Khayatzadeh Kakhki, Shaghayegh Sadat Esmail Nejad, Masood Houshmand, Mohammad Ghofran. Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation. Iranian journal of child neurology. vol 11. issue 1. 2020-09-29. PMID:28277561. |
ataxia oculomotor apraxia type 1 in the siblings of a family: a novel mutation. |
2020-09-29 |
2023-08-13 |
human |
| Parvaneh Karimzadeh, Simin Khayatzadeh Kakhki, Shaghayegh Sadat Esmail Nejad, Masood Houshmand, Mohammad Ghofran. Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation. Iranian journal of child neurology. vol 11. issue 1. 2020-09-29. PMID:28277561. |
although aoa1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in japanese population, it is reported from all over the world. |
2020-09-29 |
2023-08-13 |
human |
| Aravindhan Veerapandiyan, Stephanie Enner, Venkatraman Thulasi, Xue Min. A Rare Syndrome of Child neurology open. vol 4. 2020-09-29. PMID:28856174. |
in this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. |
2020-09-29 |
2023-08-13 |
Not clear |
| Cansu Söylemez, Ufuk Emre, Osman Özgür Yalin, Aysel Tekeşi. Wernicke's Encephalopathy Accompanying Acute Axonal Polyneuropathy: A Case Report. Noro psikiyatri arsivi. vol 56. issue 2. 2020-09-29. PMID:31223251. |
in addition to the classical symptoms (oculomotor disorder, confusion, and ataxia), acute polyneuropathy is reported to accompany the clinical condition occasionally. |
2020-09-29 |
2023-08-13 |
Not clear |
| Melissa A Paris. The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. Translational science of rare diseases. vol 4. issue 1-2. 2020-09-28. PMID:31763177. |
other universal features include hypotonia with later ataxia and intellectual disability/developmental delay, with additional features consisting of oculomotor apraxia and abnormal respiratory pattern. |
2020-09-28 |
2023-08-13 |
human |