| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| John H Pula, Christopher M Gomez, Jorge C Katta. Ophthalmologic features of the common spinocerebellar ataxias. Current opinion in ophthalmology. vol 21. issue 6. 2010-11-22. PMID:20811282. |
the spinocerebellar ataxias (scas) are a phenotypically and genetically diverse group of autosomal dominant disorders that cause pathological degeneration in the cerebellum, brainstem, and retina, resulting in a wide variety of ophthalmologic signs and symptoms. |
2010-11-22 |
2023-08-12 |
Not clear |
| Gülin Oz, Diane Hutter, Ivan Tkác, H Brent Clark, Myron D Gross, Hong Jiang, Lynn E Eberly, Khalaf O Bushara, Christopher M Gome. Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Movement disorders : official journal of the Movement Disorder Society. vol 25. issue 9. 2010-11-04. PMID:20310029. |
here we tested the sensitivity of high field (4 tesla) proton magnetic resonance spectroscopy ((1)h mrs) to neurochemical alterations in the cerebellum and brainstem in spinocerebellar ataxia type 1 (sca1). |
2010-11-04 |
2023-08-12 |
human |
| Ulf Edener, Janine Wöllner, Ute Hehr, Zacharias Kohl, Stefan Schilling, Friedmar Kreuz, Peter Bauer, Veronica Bernard, Gabriele Gillessen-Kaesbach, Christine Zühlk. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. European journal of human genetics : EJHG. vol 18. issue 8. 2010-11-01. PMID:20354562. |
autosomal dominantly inherited spinocerebellar ataxias (scas) are a heterogeneous group of neurodegenerative disorders primarily affecting the cerebellum. |
2010-11-01 |
2023-08-12 |
Not clear |
| Ruth Elizabeth Brooke, Laura Corns, Ian James Edwards, Jim Deuchar. Kv3.3 immunoreactivity in the vestibular nuclear complex of the rat with focus on the medial vestibular nucleus: targeting of Kv3.3 neurones by terminals positive for vesicular glutamate transporter 1. Brain research. vol 1345. 2010-10-21. PMID:20471378. |
furthermore, mutations in this gene have been linked to the human disease spinocerebellar ataxia 13, associated with cerebellar and extra-cerebellar symptoms such as imbalance and nystagmus. |
2010-10-21 |
2023-08-12 |
mouse |
| Yuan Yuan, Xin Zhou, Feng Ding, Yumin Liu, Jiancheng T. Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family. Neuroscience letters. vol 479. issue 3. 2010-09-27. PMID:20641168. |
the pathological changes of spinocerebellar ataxias (scas), mainly include the degeneration of the cerebellum, spinal cord and brainstem. |
2010-09-27 |
2023-08-12 |
Not clear |
| Alexandra Dur. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. The Lancet. Neurology. vol 9. issue 9. 2010-09-13. PMID:20723845. |
the designation of the loci, sca for spinocerebellar ataxia, indicates the involvement of at least two systems: the spinal cord and the cerebellum. |
2010-09-13 |
2023-08-12 |
Not clear |
| Antoni Matilla-Dueñas, Ivelisse Sánchez, Marc Corral-Juan, Antoni Dávalos, Ramiro Alvarez, Pilar Latorr. Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. Cerebellum (London, England). vol 9. issue 2. 2010-08-12. PMID:19890685. |
the autosomal dominant spinocerebellar ataxias (scas) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. |
2010-08-12 |
2023-08-12 |
Not clear |
| Joyce van de Leemput, Fabienne Wavrant-De Vrièze, Ian Rafferty, Jose M Bras, Paola Giunti, Elizabeth M C Fisher, John A Hardy, Andrew B Singleton, Henry Houlde. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Movement disorders : official journal of the Movement Disorder Society. vol 25. issue 6. 2010-07-28. PMID:20437544. |
spinocerebellar ataxia type 15 and 16 (sca15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (adca iii). |
2010-07-28 |
2023-08-12 |
Not clear |
| Taiji Tsunemi, Kinya Ishikawa, Kei Tsukui, Takuro Sumi, Ken Kitamura, Hidehiro Mizusaw. The effect of 3,4-diaminopyridine on the patients with hereditary pure cerebellar ataxia. Journal of the neurological sciences. vol 292. issue 1-2. 2010-06-14. PMID:20181362. |
downbeat nystagmus (dbn) is often seen in patients with pure cerebellar type of spinocerebellar ataxia (sca) like spinocerebellar ataxia type 6 (sca6). |
2010-06-14 |
2023-08-12 |
Not clear |
| Dien Dang, David Cunningto. Excessive daytime somnolence in spinocerebellar ataxia type 1. Journal of the neurological sciences. vol 290. issue 1-2. 2010-05-13. PMID:20045119. |
autosomal dominant spinocerebellar ataxias (scas) are progressive neurodegenerative disorders which result in dysfunction of the neuronal systems of the spinal cord, brainstem, and cerebellum. |
2010-05-13 |
2023-08-12 |
Not clear |
| Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali, Liana Veneziano, Tiziana Sacco, Enrica Boda, Alessandro Brussino, Florian Bonn, Barbara Castellotti, Silvia Baratta, Caterina Mariotti, Cinzia Gellera, Valentina Fracasso, Stefania Magri, Thomas Langer, Paolo Plevani, Stefano Di Donato, Marco Muzi-Falconi, Franco Taron. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature genetics. vol 42. issue 4. 2010-04-16. PMID:20208537. |
autosomal dominant spinocerebellar ataxias (scas) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to purkinje cell degeneration. |
2010-04-16 |
2023-08-12 |
human |
| Pu Chen, Mingyi Ma, Huifang Shang, Dan Su, Sizhong Zhang, Yuan Yan. [Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 26. issue 6. 2010-04-13. PMID:19953483. |
to standardize the experimental procedure of the gene test for autosomal dominant cerebellar ataxias (adca), and provide the basis for quantitative criteria of the dynamic mutation of spinocerebellar ataxia (sca) genes in chinese population. |
2010-04-13 |
2023-08-12 |
Not clear |
| Xiaochun Liang, Hong Jiang, Changqing Chen, Gaofeng Zhou, Junling Wang, Shen Zhang, Liwang Lei, Xiaoyi Wang, Beisha Tan. The correlation between magnetic resonance imaging features of the brainstem and cerebellum and clinical features of spinocerebellar ataxia 3/Machado-Joseph disease. Neurology India. vol 57. issue 5. 2010-01-29. PMID:19934555. |
the correlation between magnetic resonance imaging features of the brainstem and cerebellum and clinical features of spinocerebellar ataxia 3/machado-joseph disease. |
2010-01-29 |
2023-08-12 |
Not clear |
| Xiaochun Liang, Hong Jiang, Changqing Chen, Gaofeng Zhou, Junling Wang, Shen Zhang, Liwang Lei, Xiaoyi Wang, Beisha Tan. The correlation between magnetic resonance imaging features of the brainstem and cerebellum and clinical features of spinocerebellar ataxia 3/Machado-Joseph disease. Neurology India. vol 57. issue 5. 2010-01-29. PMID:19934555. |
brainstem and cerebellar atrophy are the most important features in magnetic resonance imaging (mri) in spinocerebellar ataxia type 3/machado-joseph disease (sca3/mjd). |
2010-01-29 |
2023-08-12 |
Not clear |
| Ulf Edener, Ingo Kurth, Annechristin Meiner, Frank Hoffmann, Christian A Hübner, Veronica Bernard, Gabriele Gillessen-Kaesbach, Christine Zühlk. Missense exchanges in the TTBK2 gene mutated in SCA11. Journal of neurology. vol 256. issue 11. 2010-01-01. PMID:19533200. |
the spinocerebellar ataxias (scas) with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurological disorders with overlapping as well as highly variable phenotypes primarily affecting the cerebellum. |
2010-01-01 |
2023-08-12 |
Not clear |
| Ina Schmitt, Emmanuelle Bitoun, Mario Mant. PTPRR, cerebellum, and motor coordination. Cerebellum (London, England). vol 8. issue 2. 2009-09-30. PMID:19488825. |
recent observations suggest that the human episodic ataxia 2 (ea2) and spinocerebellar ataxia types 6 (sca6), 12 (sca12), and 14 (sca14) might be associated with impaired phosphorylation levels of cerebellum calcium channels and receptors. |
2009-09-30 |
2023-08-12 |
mouse |
| Mohammed Faruq, Vinod Scaria, Inder Singh, Shivani Tyagi, Achal K Srivastava, Mitali Mukerj. SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias. Human mutation. vol 30. issue 7. 2009-09-23. PMID:19370769. |
repeat expansion has been implicated in 10 out of 17 candidate genes identified for autosomal dominant cerebellar ataxias (adcas)-commonly referred as spinocerebellar ataxias (scas). |
2009-09-23 |
2023-08-12 |
Not clear |
| Ludger Schöls, Christoph Linnemann, Christoph Globa. Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings. Cerebellum (London, England). vol 7. issue 2. 2009-05-15. PMID:18418678. |
spinocerebellar ataxias (scas) comprise a clinically and genetically heterogeneous group of autosomal dominantly inherited neurodegenerative disorders affecting the cerebellum and to variable degrees further parts of the nervous system. |
2009-05-15 |
2023-08-12 |
Not clear |
| Janel Johnson, Nicholas Wood, Paola Giunti, Henry Houlde. Clinical and genetic analysis of spinocerebellar ataxia type 11. Cerebellum (London, England). vol 7. issue 2. 2009-05-15. PMID:18418680. |
the type iii adcas are 'pure' spinocerebellar ataxias (sca), those that appear to elude neurological features outside of the cerebellum. |
2009-05-15 |
2023-08-12 |
Not clear |
| Chaim B Colen, Anastasia Ketko, Edwin George, Gregory P Van Staver. Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. vol 28. issue 4. 2009-04-09. PMID:19145126. |
we report a case of pan and pasd in a patient with spinocerebellar ataxia type 6 (sca-6) and discuss the role of the cerebellum as a plausible mechanism for this combined pathologic condition. |
2009-04-09 |
2023-08-12 |
Not clear |