| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| M Suenaga, Y Kawai, H Watanabe, N Atsuta, M Ito, F Tanaka, M Katsuno, H Fukatsu, S Naganawa, G Sobu. Cognitive impairment in spinocerebellar ataxia type 6. Journal of neurology, neurosurgery, and psychiatry. vol 79. issue 5. 2008-04-29. PMID:17682009. |
the aim of this study was to evaluate cognitive impairment in patients with spinocerebellar ataxia type 6 (sca6) and to verify the role of cerebellar involvement in intellectual abilities. |
2008-04-29 |
2023-08-12 |
Not clear |
| Neeraj Kumar, Gary M Mille. White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8. Clinical neurology and neurosurgery. vol 110. issue 1. 2008-04-17. PMID:17920187. |
we report two brothers with a progressive cerebellar syndrome due to spinocerebellar ataxia type 8 (sca8). |
2008-04-17 |
2023-08-12 |
Not clear |
| Surya N Gupta, Harold G Mark. Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. Journal of the neurological sciences. vol 264. issue 1-2. 2008-04-08. PMID:17720198. |
spinocerebellar ataxias are a group of autosomal dominant cerebellar degenerative disorders, which are characterized by clinical and genetic variability. |
2008-04-08 |
2023-08-12 |
Not clear |
| Ismael Al-Ramahi, Alma M Pérez, Janghoo Lim, Minghang Zhang, Rie Sorensen, Maria de Haro, Joana Branco, Stefan M Pulst, Huda Y Zoghbi, Juan Bota. dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS genetics. vol 3. issue 12. 2008-02-25. PMID:18166084. |
spinocerebellar ataxias (scas) are a genetically heterogeneous group of neurodegenerative disorders sharing atrophy of the cerebellum as a common feature. |
2008-02-25 |
2023-08-12 |
human |
| Sachin Katyal, Sherif F el-Khamisy, Helen R Russell, Yang Li, Limei Ju, Keith W Caldecott, Peter J McKinno. TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo. The EMBO journal. vol 26. issue 22. 2007-12-17. PMID:17914460. |
defective tyrosyl-dna phosphodiesterase 1 (tdp1) can cause spinocerebellar ataxia with axonal neuropathy (scan1), a neurodegenerative syndrome associated with marked cerebellar atrophy and peripheral neuropathy. |
2007-12-17 |
2023-08-12 |
mouse |
| Po-Shan Wang, Ren-Shyan Liu, Bang-Hung Yang, Bing-Wen Soon. Topographic brain mapping of the international cooperative ataxia rating scale. A positron emission tomography study. Journal of neurology. vol 254. issue 6. 2007-12-07. PMID:17450320. |
we assessed the icars by rating the severity of cerebellar dysfunction in 27 patients with spinocerebellar ataxias (sca), three patients with sporadic olivopontocerebellar ataxia and 24 healthy control subjects. |
2007-12-07 |
2023-08-12 |
human |
| Jessica E Young, Launce Gouw, Stephanie Propp, Bryce L Sopher, Jillian Taylor, Amy Lin, Evan Hermel, Anna Logvinova, Sylvia F Chen, Shiming Chen, Dale E Bredesen, Ray Truant, Louis J Ptacek, Albert R La Spada, Lisa M Ellerb. Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. The Journal of biological chemistry. vol 282. issue 41. 2007-11-27. PMID:17646170. |
spinocerebellar ataxia type 7 (sca7) is a polyglutamine (polyq) disorder characterized by specific degeneration of cerebellar, brainstem, and retinal neurons. |
2007-11-27 |
2023-08-12 |
mouse |
| Ellika Schalling, Britta Hammarberg, Lena Harteliu. Perceptual and acoustic analysis of speech in individuals with spinocerebellar ataxia (SCA). Logopedics, phoniatrics, vocology. vol 32. issue 1. 2007-07-16. PMID:17454658. |
with current progress in genetic research, autosomal, dominant, hereditary, neurodegenerative diseases, affecting the cerebellum and cerebellar connections, are increasingly diagnosed as spinocerebellar ataxias (sca). |
2007-07-16 |
2023-08-12 |
human |
| Su Ying Chang, Edward Zagha, Elaine S Kwon, Andres Ozaita, Marketta Bobik, Maryann E Martone, Mark H Ellisman, Nathaniel Heintz, Bernardo Rud. Distribution of Kv3.3 potassium channel subunits in distinct neuronal populations of mouse brain. The Journal of comparative neurology. vol 502. issue 6. 2007-06-26. PMID:17444489. |
kv3.3 proteins are pore-forming subunits of voltage-dependent potassium channels, and mutations in the gene encoding for kv3.3 have recently been linked to human disease, spinocerebellar ataxia 13, with cerebellar and extracerebellar symptoms. |
2007-06-26 |
2023-08-12 |
mouse |
| R Lalonde, C Straziell. Spontaneous and induced mouse mutations with cerebellar dysfunctions: behavior and neurochemistry. Brain research. vol 1140. 2007-06-01. PMID:16499884. |
more recently, transgenic models with human spinocerebellar ataxia mutations and alterations in calcium homeostasis have been shown to exhibit cerebellar anomalies and motor coordination deficits. |
2007-06-01 |
2023-08-12 |
mouse |
| Haiyan Chen, Erika S Piedras-Renterí. Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine-expanded alpha1A in SCA6. American journal of physiology. Cell physiology. vol 292. issue 3. 2007-04-24. PMID:17020933. |
spinocerebellar ataxia type 6 (sca6) is a neurodegenerative disease of the cerebellum and inferior olives characterized by a late-onset cerebellar ataxia and selective loss of purkinje neurons. |
2007-04-24 |
2023-08-12 |
human |
| Sylvia M Boesch, Christian Wolf, Klaus Seppi, Stephan Felber, Gregor K Wenning, Michael Schock. Differentiation of SCA2 from MSA-C using proton magnetic resonance spectroscopic imaging. Journal of magnetic resonance imaging : JMRI. vol 25. issue 3. 2007-04-19. PMID:17326083. |
to assess and compare biochemical and volumetric features of the cerebellum in patients with spinocerebellar ataxia type 2 (sca2) and patients with the cerebellar variant of multiple system atrophy (msa-c). |
2007-04-19 |
2023-08-12 |
Not clear |
| Melissa J Nirenberg, Jenny Libien, Jean-Paul Vonsattel, Stanley Fah. Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene mutation. Movement disorders : official journal of the Movement Disorder Society. vol 22. issue 2. 2007-03-23. PMID:17133518. |
the cerebellar variant of multiple system atrophy (msa-c) has overlapping clinical features with the hereditary spinocerebellar ataxias (scas), but can usually be distinguished on a clinical basis. |
2007-03-23 |
2023-08-12 |
Not clear |
| Hiroshi Morita, Kunihiro Yoshida, Kayo Suzuki, Shu-Ichi Iked. A Japanese case of SCA14 with the Gly128Asp mutation. Journal of human genetics. vol 51. issue 12. 2007-02-27. PMID:17024314. |
spinocerebellar ataxia type 14 (sca14) is a rare form of autosomal dominant cerebellar ataxias caused by mutations in the protein kinase cgamma gene (prkcg). |
2007-02-27 |
2023-08-12 |
Not clear |