| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Ronald A M Buijsen, Lodewijk J A Toonen, Sarah L Gardiner, Willeke M C van Roon-Mo. Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 2. 2020-01-09. PMID:30607747. |
all adcas have progressive ataxia as their main clinical feature, frequently accompanied by dysarthria and oculomotor deficits. |
2020-01-09 |
2023-08-13 |
Not clear |
| Olivier J Becherel, Brent L Fogel, Scott I Zeitlin, Hemamali Samaratunga, Jessica Greaney, Hayden Homer, Martin F Lavi. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30778901. |
disruption of spermatogenesis and infertility in ataxia with oculomotor apraxia type 2 (aoa2). |
2019-12-06 |
2023-08-13 |
mouse |
| Olivier J Becherel, Brent L Fogel, Scott I Zeitlin, Hemamali Samaratunga, Jessica Greaney, Hayden Homer, Martin F Lavi. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30778901. |
ataxia with oculomotor apraxia type 2 (aoa2) is a rare autosomal recessive cerebellar ataxia characterized by onset between 10 and 20 years of age and a range of neurological features that include progressive cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia in a majority of patients, and elevated serum alpha-fetoprotein (afp). |
2019-12-06 |
2023-08-13 |
mouse |
| Jin Zheng, Deborah L Croteau, Vilhelm A Bohr, Mansour Akbar. Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells. Nucleic acids research. vol 47. issue 8. 2019-11-25. PMID:30986824. |
ataxia with oculomotor apraxia type 1 (aoa1) is an early onset progressive spinocerebellar ataxia caused by mutation in aprataxin (aptx). |
2019-11-25 |
2023-08-13 |
Not clear |
| Velioglu, Kuzeyli, Zzmenogl. Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. European journal of neurology. vol 5. issue 5. 2019-11-20. PMID:10210881. |
clinical features included ataxia of limbs, gait and stance, cerebellar oculomotor signs. |
2019-11-20 |
2023-08-12 |
Not clear |
| A A Mhanni, J N Hartley, E Harward, E Spriggs, F Boot. Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population. Clinical genetics. vol 89. issue 4. 2019-11-20. PMID:26332941. |
ataxia with oculomotor apraxia type 2 in the canadian aboriginal population. |
2019-11-20 |
2023-08-13 |
Not clear |
| Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, Steffen Uebe, Christian T Thiel, Heinrich Sticht, Martin Berghoff, Corinna Berghoff, Bernal Morera, Michael Meisterernst, André Rei. The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. vol 19. issue 4. 2019-09-25. PMID:30039206. |
it encodes a dna repair protein recently associated with recessive ataxia with oculomotor apraxia type 4 (aoa4) and microcephaly, seizures, and developmental delay (mcsz). |
2019-09-25 |
2023-08-13 |
human |
| Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, Abderrahim M'Zahem, Lamia Ali Pacha, Meriem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Kuntzer, Hans H Jung, Jean-Marie Beis, Jean-Claude Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard Walsh, Sinead Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll-The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, Pierre Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Koenig, Mathieu Anhei. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA neurology. vol 75. issue 4. 2019-09-10. PMID:29356829. |
clinical, biomarker, and molecular delineations and genotype-phenotype correlations of ataxia with oculomotor apraxia type 1. |
2019-09-10 |
2023-08-13 |
Not clear |
| Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, Abderrahim M'Zahem, Lamia Ali Pacha, Meriem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Kuntzer, Hans H Jung, Jean-Marie Beis, Jean-Claude Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard Walsh, Sinead Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll-The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, Pierre Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Koenig, Mathieu Anhei. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA neurology. vol 75. issue 4. 2019-09-10. PMID:29356829. |
ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (aptx) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels. |
2019-09-10 |
2023-08-13 |
Not clear |
| Chiara Di Nuzzo, Fabiana Ruggiero, Francesca Cortese, Ilaria Cova, Alberto Priori, Roberta Ferrucc. Non-invasive Cerebellar Stimulation in Cerebellar Disorders. CNS & neurological disorders drug targets. vol 17. issue 3. 2019-07-11. PMID:29623859. |
in the presence of cerebellar dysfunction, several movement disorders, such as kinetic tremor, ataxia of gait, limb dysmetria and oculomotor deficits, become progressively more disabling in daily life, and no pharmacological treatments currently exist. |
2019-07-11 |
2023-08-13 |
human |
| 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. |
comparing ataxias with oculomotor apraxia: a multimodal study of aoa1, aoa2 and at focusing on video-oculography and alpha-fetoprotein. |
2019-07-03 |
2023-08-13 |
human |
| 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. |
whether the recessive ataxias, ataxia with oculomotor apraxia type 1 (aoa1) and 2 (aoa2) and ataxia telangiectasia (at), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. |
2019-07-03 |
2023-08-13 |
human |