| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Rosa Campopiano, Rosangela Ferese, Fabio Buttari, Cinzia Femiano, Diego Centonze, Francesco Fornai, Francesca Biagioni, Maria Antonietta Chiaravalloti, Mauro Magnani, Emiliano Giardina, Anna Ruzzo, Stefano Gambardell. A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4. Frontiers in neurology. vol 10. 2020-09-28. PMID:32010037. |
a novel homozygous variant in the fork-head-associated domain of polynucleotide kinase phosphatase in a patient affected by late-onset ataxia with oculomotor apraxia type 4. |
2020-09-28 |
2023-08-13 |
Not clear |
| Rosa Campopiano, Rosangela Ferese, Fabio Buttari, Cinzia Femiano, Diego Centonze, Francesco Fornai, Francesca Biagioni, Maria Antonietta Chiaravalloti, Mauro Magnani, Emiliano Giardina, Anna Ruzzo, Stefano Gambardell. A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4. Frontiers in neurology. vol 10. 2020-09-28. PMID:32010037. |
ataxia with oculomotor apraxia (aoa) is a clinical syndrome featuring a group of genetic diseases including at least four separate autosomal-recessive cerebellar ataxias. |
2020-09-28 |
2023-08-13 |
Not clear |
| Ilona Kalasova, Richard Hailstone, Janin Bublitz, Jovel Bogantes, Winfried Hofmann, Alejandro Leal, Hana Hanzlikova, Keith W Caldecot. Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair. Nucleic acids research. vol 48. issue 12. 2020-09-08. PMID:32504494. |
hereditary mutations in polynucleotide kinase-phosphatase (pnkp) result in a spectrum of neurological pathologies ranging from neurodevelopmental dysfunction in microcephaly with early onset seizures (mcsz) to neurodegeneration in ataxia oculomotor apraxia-4 (aoa4) and charcot-marie-tooth disease (cmt2b2). |
2020-09-08 |
2023-08-13 |
Not clear |
| Marta Gatti, Stefania Magri, Lorenzo Nanetti, Elisa Sarto, Daniela Di Bella, Ettore Salsano, Chiara Pantaleoni, Caterina Mariotti, Franco Taron. From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations. American journal of medical genetics. Part A. vol 179. issue 11. 2020-08-04. PMID:31436889. |
pathogenic variants in polynucleotide kinase 3'-phosphatase (pnkp) gene have been associated with two distinct clinical presentations: autosomal recessive microcephaly, seizures, and developmental delay (mcsz; mim 613402) and ataxia with oculomotor apraxia type 4 (aoa4; mim 616267). |
2020-08-04 |
2023-08-13 |
Not clear |
| S R Catford, M K O'Bryan, R I McLachlan, M B Delatycki, L Rombaut. Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. Reproductive biomedicine online. vol 38. issue 6. 2020-07-10. PMID:30642639. |
germ cell arrest associated with asetx mutation in ataxia oculomotor apraxia type 2. |
2020-07-10 |
2023-08-13 |
mouse |
| S R Catford, M K O'Bryan, R I McLachlan, M B Delatycki, L Rombaut. Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. Reproductive biomedicine online. vol 38. issue 6. 2020-07-10. PMID:30642639. |
ataxia with oculomotor apraxia type 2 (aoa2) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar atrophy, peripheral neuropathy and oculomotor apraxia. |
2020-07-10 |
2023-08-13 |
mouse |
| Christopher D Stephen, Jeremy D Schmahman. Eye Movement Abnormalities Are Ubiquitous in the Spinocerebellar Ataxias. Cerebellum (London, England). vol 18. issue 6. 2020-04-10. PMID:31175630. |
oculomotor abnormalities may be the sole motor manifestation of early and/or premanifest disease; however, not all ataxia rating scales include oculomotor assessment. |
2020-04-10 |
2023-08-13 |
Not clear |
| Christopher D Stephen, Jeremy D Schmahman. Eye Movement Abnormalities Are Ubiquitous in the Spinocerebellar Ataxias. Cerebellum (London, England). vol 18. issue 6. 2020-04-10. PMID:31175630. |
the ubiquitous presence of oculomotor abnormalities in the scas, particularly early in the course, underscores the importance of oculomotor assessment in ataxia rating scales such as bars. |
2020-04-10 |
2023-08-13 |
Not clear |