| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
in this article, we further enlarge this variability by demonstrating that early-onset axonal sensory-motor neuropathy (or axonal charcot-marie-tooth (cmt) disease) followed years later by ataxia without oculomotor apraxia can be caused by deleterious variants in pnkp. |
2016-04-12 |
2023-08-13 |
Not clear |
| Martin Paucar, Helena Malmgren, Malcolm Taylor, John J Reynolds, Per Svenningsson, Rayomand Press, Ann Nordgre. Expanding the ataxia with oculomotor apraxia type 4 phenotype. Neurology. Genetics. vol 2. issue 1. 2016-04-12. PMID:27066586. |
expanding the ataxia with oculomotor apraxia type 4 phenotype. |
2016-04-12 |
2023-08-13 |
Not clear |
| Martin Paucar, Helena Malmgren, Malcolm Taylor, John J Reynolds, Per Svenningsson, Rayomand Press, Ann Nordgre. Expanding the ataxia with oculomotor apraxia type 4 phenotype. Neurology. Genetics. vol 2. issue 1. 2016-04-12. PMID:27066586. |
ataxia with oculomotor apraxia type 4 (aoa4) is an autosomal recessive (ar) disorder recently delineated in a portuguese cohort and caused by mutations in the pnkp (polynucleotide kinase 3'-phosphatase) gene. |
2016-04-12 |
2023-08-13 |
Not clear |
| Beatriz Garcia-Diaz, Emanuele Barca, Andrea Balreira, Luis C Lopez, Saba Tadesse, Sindhu Krishna, Ali Naini, Caterina Mariotti, Barbara Castellotti, Catarina M Quinzi. Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway. Human molecular genetics. vol 24. issue 16. 2016-04-06. PMID:25976310. |
ataxia oculomotor apraxia type 1 (aoa1) is an autosomal recessive disease caused by mutations in aptx, which encodes the dna strand-break repair protein aprataxin (aptx). |
2016-04-06 |
2023-08-13 |
Not clear |
| M Ortner, A Kur. [Posterior cortical atrophy. Pathology, diagnosis and treatment of a rare form of dementia]. Der Nervenarzt. vol 86. issue 7. 2016-04-05. PMID:25791802. |
the most prominent clinical feature of pca is complex visual disturbances including object agnosia, simultanagnosia, optical ataxia and oculomotor apraxia while basic visual functions remain intact. |
2016-04-05 |
2023-08-13 |
Not clear |
| Tarun D Singh, Keith A Josephs, Mary M Machulda, Daniel A Drubach, Liana G Apostolova, Val J Lowe, Jennifer L Whitwel. Clinical, FDG and amyloid PET imaging in posterior cortical atrophy. Journal of neurology. vol 262. issue 6. 2016-03-09. PMID:25862483. |
simultanagnosia was associated with hypometabolism in the right occipital lobe and posterior cingulum, optic ataxia with hypometabolism in left occipital lobe, and oculomotor apraxia with hypometabolism in the left parietal lobe and posterior cingulate gyrus. |
2016-03-09 |
2023-08-13 |
Not clear |
| Myriam Srour, Fadi F Hamdan, Dianalee McKnight, Erica Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne-Laporte, Luis H Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean-Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet-Bianco, Jean-François Soucy, Anne-Marie Laberge, Catalina Maftei, Kym Boycott, Bernard Brais, Renée-Myriam Boucher, Guy A Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K Kukolich, Stavit Shalev, Jacques L Michau. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. American journal of human genetics. vol 97. issue 5. 2016-02-25. PMID:26477546. |
joubert syndrome (jbts) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. |
2016-02-25 |
2023-08-13 |
human |
| Matthew J Schellenberg, Percy P Tumbale, R Scott William. Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease. Progress in biophysics and molecular biology. vol 117. issue 2-3. 2016-02-03. PMID:25637650. |
aprataxin (aptx), a protein altered in the heritable neurological disorder ataxia with oculomotor apraxia 1 (aoa1), acts as a dna ligase "proofreader" to directly reverse amp-modified nucleic acid termini in dna- and rna-dna damage responses. |
2016-02-03 |
2023-08-13 |
Not clear |