Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
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 |
b' Jos\\xc3\\xa9 Gazulla, Mari A Tintor\\xc3\\xa. The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit. Medical hypotheses. vol 68. issue 1. 2007-01-30. PMID:16899342.' |
spinocerebellar ataxia type 6 (sca 6) is an autosomal dominant cerebellar degeneration that shares neuropathological findings with late-onset cortical cerebellar atrophy (cca). |
2007-01-30 |
2023-08-12 |
xenopus_laevis |
Carsten Lukas, Ludger Schöls, Barbara Bellenberg, Udo Rüb, Horst Przuntek, Gebhard Schmid, Odo Köster, Boris Sucha. Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study. Neuroscience letters. vol 408. issue 3. 2007-01-23. PMID:17005321. |
the aim of this study was to examine the different patterns of cerebellar and/or brainstem atrophy in spinocerebellar ataxia (sca) type 3 and 6. |
2007-01-23 |
2023-08-12 |
human |
Y Hellenbroich, K Gierga, E Reusche, E Schwinger, T Deller, R A I de Vos, C Zühlke, U Rü. Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. Journal of neural transmission (Vienna, Austria : 1996). vol 113. issue 7. 2007-01-05. PMID:16362839. |
spinocerebellar ataxia type 4 (sca4): initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. |
2007-01-05 |
2023-08-12 |
Not clear |
K Lasek, R Lencer, C Gaser, J Hagenah, U Walter, A Wolters, N Kock, S Steinlechner, M Nagel, C Zühlke, M-F Nitschke, K Brockmann, C Klein, A Rolfs, F Binkofsk. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). Brain : a journal of neurology. vol 129. issue Pt 9. 2006-10-04. PMID:16760196. |
spinocerebellar ataxia 17 (sca17) is a rare genetic disorder characterized by cerebellar, extrapyramidal, pyramidal as well as psychiatric signs. |
2006-10-04 |
2023-08-12 |
Not clear |
Yoshio Ienaga, Hiroshi Mitoma, Kohei Kubota, Sadao Morita, Hidehiro Mizusaw. Dynamic imbalance in gait ataxia. Characteristics of plantar pressure measurements. Journal of the neurological sciences. vol 246. issue 1-2. 2006-08-10. PMID:16574155. |
for this purpose, we compared the walking patterns of patients with cerebellar dominant multiple system atrophy (msac, n = 8), spinocerebellar ataxia type 6 (sca6, n = 4) and 16q-linked autosomal dominant cortical cerebellar atrophy (16q-linked adca, n = 6), and 6 normal subjects, by measuring toe and heel plantar pressures. |
2006-08-10 |
2023-08-12 |
human |
Esther Brusse, Inge de Koning, Anneke Maat-Kievit, Ben A Oostra, Peter Heutink, John C van Swiete. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Movement disorders : official journal of the Movement Disorder Society. vol 21. issue 3. 2006-08-03. PMID:16211615. |
autosomal dominant cerebellar ataxias (adcas) are genetically classified into spinocerebellar ataxias (scas). |
2006-08-03 |
2023-08-12 |
Not clear |