| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Matthew D Benson, Patrick Ferreira, Ian M MacDonal. Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report. Ophthalmic genetics. vol 38. issue 1. 2017-11-13. PMID:27054461. |
oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: a case report. |
2017-11-13 |
2023-08-13 |
Not clear |
| Matthias Groh, Laura Oana Albulescu, Agnese Cristini, Natalia Groma. Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration. Journal of molecular biology. vol 429. issue 21. 2017-10-31. PMID:27771483. |
mutations in setx are linked to two neurodegenerative disorders: ataxia with oculomotor apraxia type 2 (aoa2) and amyotrophic lateral sclerosis type 4 (als4). |
2017-10-31 |
2023-08-13 |
Not clear |
| Claire Breslin, Rajam S Mani, Mesfin Fanta, Nicolas Hoch, Michael Weinfeld, Keith W Caldecot. The Rev1 interacting region (RIR) motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair. The Journal of biological chemistry. vol 292. issue 39. 2017-10-16. PMID:28821613. |
one of the most important interactions of xrcc1 is that with polynucleotide kinase/phosphatase (pnkp), a dual-function dna kinase/phosphatase that processes damaged dna termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (aoa4) and microcephaly with early-onset seizures and developmental delay (mcsz). |
2017-10-16 |
2023-08-13 |
Not clear |
| C Tzoulis, Paweł Sztromwasser, Stefan Johansson, Ivar Otto Gjerde, Per Knappskog, L A Bindof. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:27165045. |
this patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. |
2017-09-26 |
2023-08-13 |
Not clear |
| Zeeshan Mushtaq, Saumitra Dey Choudhury, Sri Krishna Gangwar, Genny Orso, Vimlesh Kuma. Human Senataxin Modulates Structural Plasticity of the Neuromuscular Junction in Drosophila through a Neuronally Conserved TGFβ Signalling Pathway. Neuro-degenerative diseases. vol 16. issue 5-6. 2017-09-13. PMID:27197982. |
mutations in the human senataxin (hsetx) gene have been shown to cause two forms of neurodegenerative disorders - a dominant form called amyotrophic lateral sclerosis type 4 (als4) and a recessive form called ataxia with oculomotor apraxia type 2 (aoa2). |
2017-09-13 |
2023-08-13 |
human |
| Lavinia C Dumitrache, Peter J McKinno. Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease. Mechanisms of ageing and development. vol 161. issue Pt A. 2017-08-07. PMID:27125728. |
for example microcephaly with seizures (mcsz) results from various hypomorphic pnkp mutations, as does ataxia with oculomotor apraxia 4 (aoa4). |
2017-08-07 |
2023-08-13 |
human |
| Doreen Crawford, Annette Dearmu. Joubert syndrome. Nursing children and young people. vol 29. issue 5. 2017-07-20. PMID:28604212. |
named after the french doctor who first described this rare neurological condition, joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia. |
2017-07-20 |
2023-08-13 |
Not clear |
| Santhosh Kumar Sariki, Pushpendra Kumar Sahu, Upendarrao Golla, Vikash Singh, Gajendra Kumar Azad, Raghuvir S Toma. Sen1, the homolog of human Senataxin, is critical for cell survival through regulation of redox homeostasis, mitochondrial function, and the TOR pathway in Saccharomyces cerevisiae. The FEBS journal. vol 283. issue 22. 2017-06-30. PMID:27718307. |
mutations in the senataxin gene, setx are known to cause the neurodegenerative disorders, ataxia with oculomotor apraxia type 2 (aoa2), and amyotrophic lateral sclerosis 4 (als4). |
2017-06-30 |
2023-08-13 |
human |
| Amene Saghazadeh, Sina Hafizi, Firouzeh Hosseini, Mahmoud Reza Ashrafi, Nima Rezae. Early-Onset Friedreich's Ataxia With Oculomotor Apraxia. Acta medica Iranica. vol 55. issue 2. 2017-06-20. PMID:28282710. |
early-onset friedreich's ataxia with oculomotor apraxia. |
2017-06-20 |
2023-08-13 |
Not clear |
| Amene Saghazadeh, Sina Hafizi, Firouzeh Hosseini, Mahmoud Reza Ashrafi, Nima Rezae. Early-Onset Friedreich's Ataxia With Oculomotor Apraxia. Acta medica Iranica. vol 55. issue 2. 2017-06-20. PMID:28282710. |
ataxia with ocular motor apraxia type 1 (aoa1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia. |
2017-06-20 |
2023-08-13 |
Not clear |
| Amene Saghazadeh, Sina Hafizi, Firouzeh Hosseini, Mahmoud Reza Ashrafi, Nima Rezae. Early-Onset Friedreich's Ataxia With Oculomotor Apraxia. Acta medica Iranica. vol 55. issue 2. 2017-06-20. PMID:28282710. |
therefore, neurologists should bear in mind that clinical presentations of frda may vary widely from the classical phenotype of gait and limb ataxia to atypical manifestations such as oculomotor apraxia. |
2017-06-20 |
2023-08-13 |
Not clear |
| Michael Dayan, G Olivito, M Molinari, Mara Cercignani, Marco Bozzali, M Leggi. Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging. Functional neurology. vol 31. issue 4. 2017-03-02. PMID:28072384. |
a significant correlation was found between mcp mean fa and total ataxia score (r=-0.7, p=0.03), and subscores for kinetic functions (r=-0.74, p=0.03) and oculomotor disorders (r=-0.70, p=0.04). |
2017-03-02 |
2023-08-13 |
Not clear |
| Laszlo Szpisjak, Izabella Obal, Jozsef I Engelhardt, Laszlo Vecsei, Peter Kliveny. A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. Acta neurologica Belgica. vol 116. issue 3. 2017-01-17. PMID:26811093. |
a novel setx gene mutation producing ataxia with oculomotor apraxia type 2. |
2017-01-17 |
2023-08-13 |
Not clear |
| Bettina Balint, Kailash P Bhati. Hot topic: PNKP mutations cause ataxia with oculomotor apraxia type 4. Movement disorders : official journal of the Movement Disorder Society. vol 31. issue 4. 2017-01-17. PMID:26970421. |
hot topic: pnkp mutations cause ataxia with oculomotor apraxia type 4. |
2017-01-17 |
2023-08-13 |
Not clear |
| Andreea Nissenkorn, Bruria Ben-Zee. Ataxia telangiectasia. Handbook of clinical neurology. vol 132. 2016-08-22. PMID:26564081. |
at is also the second most common childhood onset neurodegenerative disorder of the cerebellum, presenting with progressive ataxia and oculomotor apraxia and often accompanied by extrapyramidal movement disorders. |
2016-08-22 |
2023-08-13 |
Not clear |
| Abrey J Yeo, Olivier J Becherel, John E Luff, Mark E Graham, Derek Richard, Martin F Lavi. Senataxin controls meiotic silencing through ATR activation and chromatin remodeling. Cell discovery. vol 1. 2016-07-27. PMID:27462424. |
senataxin, defective in ataxia oculomotor apraxia type 2, protects the genome by facilitating the resolution of rna-dna hybrids (r-loops) and other aspects of rna processing. |
2016-07-27 |
2023-08-13 |
mouse |
| Olivier J Becherel, Jane Sun, Abrey J Yeo, Sam Nayler, Brent L Fogel, Fuying Gao, Giovanni Coppola, Chiara Criscuolo, Giuseppe De Michele, Ernst Wolvetang, Martin F Lavi. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. Human molecular genetics. vol 24. issue 20. 2016-07-12. PMID:26231220. |
a new model to study neurodegeneration in ataxia oculomotor apraxia type 2. |
2016-07-12 |
2023-08-13 |
mouse |
| Olivier J Becherel, Jane Sun, Abrey J Yeo, Sam Nayler, Brent L Fogel, Fuying Gao, Giovanni Coppola, Chiara Criscuolo, Giuseppe De Michele, Ernst Wolvetang, Martin F Lavi. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. Human molecular genetics. vol 24. issue 20. 2016-07-12. PMID:26231220. |
ataxia oculomotor apraxia type 2 (aoa2) is a rare autosomal recessive cerebellar ataxia. |
2016-07-12 |
2023-08-13 |
mouse |
| A Mignarri, A Tessa, A Federico, F M Santorelli, Maria Teresa Dott. Ataxia with oculomotor apraxia type 2: not always an easy diagnosis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 36. issue 8. 2016-04-20. PMID:25787807. |
ataxia with oculomotor apraxia type 2: not always an easy diagnosis. |
2016-04-20 |
2023-08-13 |
Not clear |
| José Luiz Pedroso, Clarissa R R Rocha, Lucia I Macedo-Souza, Vitor De Mario, Wilson Marques, Orlando G P Barsottini, Acary S Bulle Oliveira, Carlos F M Menck, Fernando Ko. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease. Neurology. Genetics. vol 1. issue 4. 2016-04-12. PMID:27066567. |
(2) recently, whole-exome sequencing (wes) performed in a cohort of portuguese families with ataxia with oculomotor apraxia (aoa) disclosed pathogenic variants in pnkp in 11 individuals. |
2016-04-12 |
2023-08-13 |
Not clear |