| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ji Sun Kim, Ji Soo Kim, Jinyoung Youn, Dae-Won Seo, Yuri Jeong, Ji-Hoon Kang, Jeong Ho Park, Jin Whan Ch. Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features. Movement disorders : official journal of the Movement Disorder Society. vol 28. issue 9. 2014-04-02. PMID:23609488. |
because of frequent involvement of the cerebellum and brainstem, ocular motor abnormalities are key features of spinocerebellar ataxias and may aid in differential diagnosis. |
2014-04-02 |
2023-08-12 |
Not clear |
| Rong-Ni Chang, Guang-Zhi Yuan, Jian-Qiang Tan, Qing-Niao Lai, Jun Ma, Yi-Jin Yang, Wei Shu, Wei Hou, Zhi-Gang Yua. [Analysis of SCA3/MJD3 gene mutation and genetic polymorphism in a guangxi family with spinocerebellar ataxia 3]. Yi chuan = Hereditas. vol 35. issue 11. 2014-04-01. PMID:24579313. |
autosomal dominant cerebellar ataxias (adcas) comprise a group of genetically heterogeneous neurodegenerative disorders among which spinocerebellar ataxia type 3 (sca3) represents the most common form of scas worldwide. |
2014-04-01 |
2023-08-12 |
Not clear |
| Sergio Alejandro Rodríguez-Quiroga, Dolores Gonzalez-Morón, Nelida Garretto, Marcelo Andres Kauffma. Huntington's disease masquerading as spinocerebellar ataxia. BMJ case reports. vol 2013. 2014-03-10. PMID:23853009. |
noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of hd patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (sca), were occasionally reported. |
2014-03-10 |
2023-08-12 |
Not clear |
| Laura Segabinazzi Pacheco, Aron Ferreira da Silveira, Alexis Trott, Lucien J Houenou, Thaís Doeler Algarve, Caroline Belló, Adriano Flesch Lenz, Maria Fernanda Mânica-Cattani, Ivana Beatrice Mânica da Cru. Association between Machado-Joseph disease and oxidative stress biomarkers. Mutation research. Genetic toxicology and environmental mutagenesis. vol 757. issue 2. 2014-01-17. PMID:23994570. |
spinocerebellar ataxia type 3, also called machado-joseph disease (mjd), is an hereditary autosomal dominant neurodegenerative disease that affects the cerebellum and its afferent and efferent connections. |
2014-01-17 |
2023-08-12 |
human |
| H Yamaura, H Hirai, D Yanagihar. Postural dysfunction in a transgenic mouse model of spinocerebellar ataxia type 3. Neuroscience. vol 243. 2013-12-17. PMID:23567815. |
to examine the role of the cerebellum in apas, we investigated a conditional transgenic mouse of spinocerebellar ataxia type 3 (sca3tg) that has defective cerebellar purkinje cells. |
2013-12-17 |
2023-08-12 |
mouse |
| Lisa M Bunn, Jonathan F Marsden, Paola Giunti, Brian L Da. Stance instability in spinocerebellar ataxia type 6. Movement disorders : official journal of the Movement Disorder Society. vol 28. issue 4. 2013-11-27. PMID:23143967. |
spinocerebellar ataxia type 6 (sca6) provides an opportunity to understand balance dysfunction associated with a relatively homogenous cerebellar lesion. |
2013-11-27 |
2023-08-12 |
human |
| Huu Phuc Nguyen, Jeannette Hübener, Jonasz Jeremiasz Weber, Stephan Grueninger, Olaf Riess, Andreas Weis. Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. PloS one. vol 8. issue 4. 2013-11-26. PMID:23626768. |
cerebellar soluble mutant ataxin-3 level decreases during disease progression in spinocerebellar ataxia type 3 mice. |
2013-11-26 |
2023-08-12 |
mouse |
| Huu Phuc Nguyen, Jeannette Hübener, Jonasz Jeremiasz Weber, Stephan Grueninger, Olaf Riess, Andreas Weis. Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. PloS one. vol 8. issue 4. 2013-11-26. PMID:23626768. |
of interest, we observed a tendency for decrease of soluble mutant ataxin-3 only in the cerebellum of transgenic sca3 mice, one of the most affected brain regions in spinocerebellar ataxia type 3 but not in whole brain tissue, indicative of a brain region selective change in mutant ataxin-3 protein homeostasis. |
2013-11-26 |
2023-08-12 |
mouse |
| Udo Rüb, Ludger Schöls, Henry Paulson, Georg Auburger, Pawel Kermer, Joanna C Jen, Kay Seidel, Horst-Werner Korf, Thomas Delle. Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Progress in neurobiology. vol 104. 2013-11-05. PMID:23438480. |
the spinocerebellar ataxias type 1 (sca1), 2 (sca2), 3 (sca3), 6 (sca6) and 7 (sca7) are genetically defined autosomal dominantly inherited progressive cerebellar ataxias (adcas). |
2013-11-05 |
2023-08-12 |
Not clear |
| Cecilia Bonnet, Emmanuelle Apartis, Mathieu Anheim, Andre P Legrand, Jose F Baizabal-Carvallo, Anne M Bonnet, Alexandra Durr, Marie Vidailhe. Tremor-spectrum in spinocerebellar ataxia type 3. Journal of neurology. vol 259. issue 11. 2013-08-22. PMID:22592286. |
spinocerebellar ataxia type 3 (sca3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramidal symptoms. |
2013-08-22 |
2023-08-12 |
Not clear |
| Alice Chort, Sandro Alves, Martina Marinello, Béatrice Dufresnois, Jean-Gabriel Dornbierer, Christelle Tesson, Morwena Latouche, Darren P Baker, Martine Barkats, Khalid H El Hachimi, Merle Ruberg, Alexandre Janer, Giovanni Stevanin, Alexis Brice, Annie Sittle. Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice. Brain : a journal of neurology. vol 136. issue Pt 6. 2013-08-07. PMID:23518714. |
the performance of the sca7(266q/5q) knock-in mice was significantly improved on two behavioural tests sensitive to cerebellar function: the locotronic® test of locomotor function and the beam walking test of balance, motor coordination and fine movements, which are affected in patients with spinocerebellar ataxia 7. |
2013-08-07 |
2023-08-12 |
mouse |
| Domenico Italiano, Patrizia Tarantino, Elvira Valeria De Marco, Rocco Salvatore Calabrò, Placido Bramanti, Aldo Quattrone, Grazia Annes. Spinocerebellar ataxia type 7: report of a new Italian family. Internal medicine (Tokyo, Japan). vol 51. issue 20. 2013-08-05. PMID:23064575. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. |
2013-08-05 |
2023-08-12 |
Not clear |
| Uanda Cristina Almeida-Silva, Jaime Eduardo Cecílio Hallak, Wilson Marques Júnior, Flávia de Lima Osóri. Association between spinocerebellar ataxias caused by glutamine expansion and psychiatric and neuropsychological signals - a literature review. American journal of neurodegenerative disease. vol 2. issue 2. 2013-07-11. PMID:23844332. |
the autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (sca), are characterized by cerebellar degeneration and by their afferent and efferent connections. |
2013-07-11 |
2023-08-12 |
Not clear |
| J J Magaña, L Velázquez-Pérez, B Cisnero. Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives. Molecular neurobiology. vol 47. issue 1. 2013-06-04. PMID:22996397. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominant genetic disease characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia, severe tremor of postural or action type, peripheral neuropathy, cognitive disorders, and other multisystemic features. |
2013-06-04 |
2023-08-12 |
Not clear |
| Antonio Costantini, Maria Immacolata Pala, Marco Colangeli, Serena Savell. Thiamine and spinocerebellar ataxia type 2. BMJ case reports. vol 2013. 2013-06-03. PMID:23314445. |
spinocerebellar ataxia type 2 is a genetic disorder characterised by the degeneration of the cerebellum, its connections and degeneration in brainstem areas. |
2013-06-03 |
2023-08-12 |
Not clear |
| Katherine E Hekman, Guo-Yun Yu, Christopher D Brown, Haipeng Zhu, Xiaofei Du, Kristina Gervin, Dag Erik Undlien, April Peterson, Giovanni Stevanin, H Brent Clark, Stefan M Pulst, Thomas D Bird, Kevin P White, Christopher M Gome. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Human molecular genetics. vol 21. issue 26. 2013-05-15. PMID:23001565. |
the autosomal dominant spinocerebellar ataxias (scas) are a genetically heterogeneous group of disorders exhibiting cerebellar atrophy and purkinje cell degeneration whose subtypes arise from 31 distinct genetic loci. |
2013-05-15 |
2023-08-12 |
Not clear |
| Makoto Takahashi, Kinya Ishikawa, Nozomu Sato, Masato Obayashi, Yusuke Niimi, Taro Ishiguro, Mitsunori Yamada, Yasuko Toyoshima, Hitoshi Takahashi, Takeo Kato, Masaki Takao, Shigeo Murayama, Osamu Mori, Yoshinobu Eishi, Hidehiro Mizusaw. Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 32. issue 6. 2013-05-09. PMID:22393909. |
reduced brain-derived neurotrophic factor (bdnf) mrna expression and presence of bdnf-immunoreactive granules in the spinocerebellar ataxia type 6 (sca6) cerebellum. |
2013-05-09 |
2023-08-12 |
human |
| Jiing-Feng Lirng, Po-Shan Wang, Hung-Chieh Chen, Bing-Wen Soong, Wan Yuo Guo, Hsiu-Mei Wu, Cheng-Yen Chan. Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. PloS one. vol 7. issue 10. 2013-05-09. PMID:23118909. |
in this study, we investigated whether proton magnetic resonance spectroscopy (mrs) may help differentiate spinocerebellar ataxias (sca) from multiple systemic atrophy- cerebellar type (msa-c). |
2013-05-09 |
2023-08-12 |
Not clear |
| Antoni Matilla-Dueña. The ever expanding spinocerebellar ataxias. Editorial. Cerebellum (London, England). vol 11. issue 4. 2013-04-24. PMID:22447528. |
the spinocerebellar ataxias (scas) are a clinically, genetically, and neuropathologically heterogeneous group of neurological disorders defined by variable degrees of cerebellar ataxia often accompanied by additional cerebellar and non-cerebellar symptoms that, in many cases,defy differentiation based on clinical characterisation alone. |
2013-04-24 |
2023-08-12 |
Not clear |
| Kathrin Reetz, Ana S Costa, Shahram Mirzazade, Anna Lehmann, Agnes Juzek, Maria Rakowicz, Romana Boguslawska, Ludger Schöls, Christoph Linnemann, Caterina Mariotti, Marina Grisoli, Alexandra Dürr, Bart P van de Warrenburg, Dagmar Timmann, Massimo Pandolfo, Peter Bauer, Heike Jacobi, Till-Karsten Hauser, Thomas Klockgether, Jörg B Schul. Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain : a journal of neurology. vol 136. issue Pt 3. 2013-04-23. PMID:23423669. |
spinocerebellar ataxias are dominantly inherited disorders that are associated with progressive brain degeneration, mainly affecting the cerebellum and brainstem. |
2013-04-23 |
2023-08-12 |
human |