| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Theresa A Zesiewicz, Kelly L Sulliva. Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14). Clinical neuropharmacology. vol 31. issue 6. 2009-02-12. PMID:19050414. |
two patients with spinocerebellar ataxia (types 3 and 14) experienced marked improvement in their cerebellar symptoms shortly after taking varenicline (chantix). |
2009-02-12 |
2023-08-12 |
Not clear |
| Paolo Vitali, Raffaella Migliaccio, Federica Agosta, Howard J Rosen, Michael D Geschwin. Neuroimaging in dementia. Seminars in neurology. vol 28. issue 4. 2009-02-03. PMID:18843575. |
high-resolution volumetric mri has increased the capacity to identify the various forms of the frontotemporal lobar degeneration spectrum and some forms of parkinsonism or cerebellar neurodegenerative disorders, such as corticobasal degeneration, progressive supranuclear palsy, multiple system atrophy, and spinocerebellar ataxias. |
2009-02-03 |
2023-08-12 |
Not clear |
| Shigeki Hirano, Hitoshi Shinotoh, Kimihito Arai, Akiyo Aotsuka, Fumihiko Yasuno, Noriko Tanaka, Tsuneyoshi Ota, Koichi Sato, Kiyoshi Fukushi, Shuji Tanada, Takamichi Hattori, Toshiaki Iri. PET study of brain acetylcholinesterase in cerebellar degenerative disorders. Movement disorders : official journal of the Movement Disorder Society. vol 23. issue 8. 2008-10-20. PMID:18412283. |
eight patients with the cerebellar variant of multiple system atrophy (msa-c), 7 patients with spinocerebellar ataxia type-3 (sca-3), 3 patients with sca-6, and 13 healthy age-matched volunteers participated in this study. |
2008-10-20 |
2023-08-12 |
human |
| K Hara, A Shiga, H Nozaki, J Mitsui, Y Takahashi, H Ishiguro, H Yomono, H Kurisaki, J Goto, T Ikeuchi, S Tsuji, M Nishizawa, O Onoder. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology. vol 71. issue 8. 2008-10-07. PMID:18579805. |
spinocerebellar ataxia type 15 (sca15) is a progressive neurodegenerative disorder characterized by pure cerebellar ataxia, very slow progression, and distinct cerebellar atrophy. |
2008-10-07 |
2023-08-12 |
Not clear |
| Riccardo Della Nave, Andrea Ginestroni, Carlo Tessa, Mirco Cosottini, Marco Giannelli, Elena Salvatore, Ferdinando Sartucci, Giuseppe De Michele, Maria Teresa Dotti, Silvia Piacentini, Mario Mascalch. Brain structural damage in spinocerebellar ataxia type 2. A voxel-based morphometry study. Movement disorders : official journal of the Movement Disorder Society. vol 23. issue 6. 2008-08-06. PMID:18311829. |
we assessed with vbm 20 spinocerebellar ataxia type 2 (sca2) patients with mild or moderate cerebellar deficit and 20 age and sex-matched healthy controls. |
2008-08-06 |
2023-08-12 |
Not clear |
| M Gerwig, A C Esser, H Guberina, M Frings, F P Kolb, M Forsting, V Aurich, A Beck, D Timman. Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals. Experimental brain research. vol 187. issue 1. 2008-06-25. PMID:18253726. |
to elucidate whether the cerebellar cortex may contribute to trace eyeblink conditioning in humans, eight patients with degenerative cerebellar disorders (four with sporadic adult onset ataxia, three with autosomal dominant cerebellar ataxia type iii and one with spinocerebellar ataxia type 6) and eight age- and sex-matched healthy control subjects were investigated. |
2008-06-25 |
2023-08-12 |
human |
| Bhupinder Bawa, Louise C Abbot. Analysis of calcium ion homeostasis and mitochondrial function in cerebellar granule cells of adult CaV 2.1 calcium ion channel mutant mice. Neurotoxicity research. vol 13. issue 1. 2008-06-09. PMID:18367436. |
cav 2.1 voltage-gated calcium channels (vgcc) are highly expressed by cerebellar neurons, and their dysfunction is linked to human disorders including familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6. |
2008-06-09 |
2023-08-12 |
mouse |
| Satoru Ota, Kuniaki Tsuchiya, Midori Anno, Kazuhiro Niizato, Haruhiko Akiyam. Distribution of cerebello-olivary degeneration in idiopathic late cortical cerebellar atrophy: clinicopathological study of four autopsy cases. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 28. issue 1. 2008-05-21. PMID:18181834. |
to elucidate the features of lesions in the cerebellar cortex and inferior olivary nucleus, four autopsy cases suffering from idiopathic lcca without other cortical cerebellar atrophies, such as alcoholic cerebellar degeneration, phenytoin intoxication, or hereditary cerebellar atrophy including spinocerebellar ataxia type 6, were examined. |
2008-05-21 |
2023-08-12 |
Not clear |
| James T H Teo, Susanne A Schneider, Binith J Cheeran, Miguel Fernandez-del-Olmo, Paola Giunti, John C Rothwell, Kailash P Bhati. Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6. Movement disorders : official journal of the Movement Disorder Society. vol 23. issue 3. 2008-05-08. PMID:18074367. |
spinocerebellar ataxia 6 (sca6) is a hereditary disease characterized by a trinucleotide repeat expansion in the cacna1a gene and late-onset bilateral cerebellar atrophy. |
2008-05-08 |
2023-08-12 |
human |