| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ho Tsoi, Allen C S Yu, Zhefan S Chen, Nelson K N Ng, Anne Y Y Chan, Liz Y P Yuen, Jill M Abrigo, Suk Ying Tsang, Stephen K W Tsui, Tony M F Tong, Ivan F M Lo, Stephen T S Lam, Vincent C T Mok, Lawrence K S Wong, Jacky C K Ngo, Kwok-Fai Lau, Ting-Fung Chan, H Y Edwin Cha. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. Journal of medical genetics. vol 51. issue 9. 2015-11-05. PMID:25062847. |
spinocerebellar ataxias (scas) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. |
2015-11-05 |
2023-08-13 |
Not clear |
| T J R de Rezende, A D'Abreu, R P Guimarães, T M Lopes, I Lopes-Cendes, F Cendes, G Castellano, M C Franç. Cerebral cortex involvement in Machado-Joseph disease. European journal of neurology. vol 22. issue 2. 2015-11-03. PMID:25251537. |
machado-joseph disease (mjd/sca3) is the most frequent spinocerebellar ataxia, characterized by brainstem, basal ganglia and cerebellar damage. |
2015-11-03 |
2023-08-13 |
Not clear |
| Marija Cvetanovi. Decreased expression of glutamate transporter GLAST in Bergmann glia is associated with the loss of Purkinje neurons in the spinocerebellar ataxia type 1. Cerebellum (London, England). vol 14. issue 1. 2015-10-23. PMID:25255716. |
spinocerebellar ataxia type 1 (sca1) is a dominantly inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein atxn1. |
2015-10-23 |
2023-08-13 |
mouse |
| Tao Hu, Bi Zhao, Qian-qian Wei, Huifang Shan. Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12. Journal of the neurological sciences. vol 349. issue 1-2. 2015-09-28. PMID:25586539. |
in a chinese family with spinocerebellar ataxia type 12 (sca12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal cag repeat length in the brain-specific protein phosphatase 2, regulatory subunit b, beta isoform (ppp2r2b) gene. |
2015-09-28 |
2023-08-13 |
Not clear |
| Roderick P P W M Maas, Judith van Gaalen, Thomas Klockgether, Bart P C van de Warrenbur. The preclinical stage of spinocerebellar ataxias. Neurology. vol 85. issue 1. 2015-09-18. PMID:26062625. |
the autosomal dominant spinocerebellar ataxias (scas) are a heterogeneous group of degenerative diseases of the cerebellum and connected regions. |
2015-09-18 |
2023-08-13 |
human |
| Ravi J Louis, Michelle Lee, Sheng-Han Kuo, Jean-Paul G Vonsattel, Elan D Louis, Phyllis L Faus. Cellular density in the cerebellar molecular layer in essential tremor, spinocerebellar ataxia, and controls. Parkinsonism & related disorders. vol 20. issue 11. 2015-09-04. PMID:25218844. |
cellular density in the cerebellar molecular layer in essential tremor, spinocerebellar ataxia, and controls. |
2015-09-04 |
2023-08-13 |
Not clear |
| Ravi J Louis, Michelle Lee, Sheng-Han Kuo, Jean-Paul G Vonsattel, Elan D Louis, Phyllis L Faus. Cellular density in the cerebellar molecular layer in essential tremor, spinocerebellar ataxia, and controls. Parkinsonism & related disorders. vol 20. issue 11. 2015-09-04. PMID:25218844. |
we quantified cerebellar molecular layer cellular density in 15 et cases, 15 controls, and 7 spinocerebellar ataxia (sca) cases (2:2:1 ratio). |
2015-09-04 |
2023-08-13 |
Not clear |
| Melanie D Mark, Martin Krause, Henk-Jan Boele, Wolfgang Kruse, Stefan Pollok, Thomas Kuner, Deniz Dalkara, Sebastiaan Koekkoek, Chris I De Zeeuw, Stefan Herlitz. Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 35. issue 23. 2015-08-19. PMID:26063920. |
spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity. |
2015-08-19 |
2023-08-13 |
mouse |
| Roberto E Mercadillo, Víctor Galvez, Rosalinda Díaz, Carlos Roberto Hernández-Castillo, Aurelio Campos-Romo, Marie-Catherine Boll, Erick H Pasaye, Juan Fernandez-Rui. Parahippocampal gray matter alterations in Spinocerebellar Ataxia Type 2 identified by voxel based morphometry. Journal of the neurological sciences. vol 347. issue 1-2. 2015-08-06. PMID:25263602. |
spinocerebellar ataxia type 2 (sca2) is a genetic disorder causing cerebellar degeneration that result in motor and cognitive alterations. |
2015-08-06 |
2023-08-13 |
human |
| Maria R Stefanescu, Moritz Dohnalek, Stefan Maderwald, Markus Thürling, Martina Minnerop, Andreas Beck, Marc Schlamann, Joern Diedrichsen, Mark E Ladd, Dagmar Timman. Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia. Brain : a journal of neurology. vol 138. issue Pt 5. 2015-07-17. PMID:25818870. |
as expected, the volume of the cerebellum was markedly reduced in spinocerebellar ataxia type 6, preserved in friedreich's ataxia, and mildy reduced in spinocerebellar ataxia type 3. |
2015-07-17 |
2023-08-13 |
Not clear |
| Roberto Emmanuele Mercadillo, Víctor Galvez, Rosalinda Díaz, Lorena Paredes, Javier Velázquez-Moctezuma, Carlos R Hernandez-Castillo, Juan Fernandez-Rui. Social and Cultural Elements Associated with Neurocognitive Dysfunctions in Spinocerebellar Ataxia Type 2 Patients. Frontiers in psychiatry. vol 6. 2015-06-26. PMID:26113822. |
spinocerebellar ataxia type 2 (sca2) is a rare genetic disorder producing cerebellar degeneration and affecting motor abilities. |
2015-06-26 |
2023-08-13 |
human |
| Katherine E Hekman, Christopher M Gome. The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability. Journal of neurology, neurosurgery, and psychiatry. vol 86. issue 5. 2015-06-22. PMID:25136055. |
the spinocerebellar ataxias are a genetically heterogeneous group of disorders with clinically overlapping phenotypes arising from purkinje cell degeneration, cerebellar atrophy and varying degrees of degeneration of other grey matter regions. |
2015-06-22 |
2023-08-13 |
Not clear |
| Marcus Vinicius Cristino de Albuquerque, José Luiz Pedroso, Pedro Braga Neto, Orlando Graziani Povoas Barsottin. Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias. Arquivos de neuro-psiquiatria. vol 73. issue 1. 2015-06-19. PMID:25608122. |
spinocerebellar ataxia type 7 (sca7) is caused by an abnormal cag repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. |
2015-06-19 |
2023-08-13 |
Not clear |
| Ji Sun Kim, Jin Whan Ch. Hereditary Cerebellar Ataxias: A Korean Perspective. Journal of movement disorders. vol 8. issue 2. 2015-06-19. PMID:26090078. |
more than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. |
2015-06-19 |
2023-08-13 |
Not clear |
| An-Hsun Chou, Ying-Ling Chen, Su-Huei Hu, Ya-Ming Chang, Hung-Li Wan. Polyglutamine-expanded ataxin-3 impairs long-term depression in Purkinje neurons of SCA3 transgenic mouse by inhibiting HAT and impairing histone acetylation. Brain research. vol 1583. 2015-06-05. PMID:25139423. |
our previous study using a transgenic mouse model of spinocerebellar ataxia type 3 (sca3) reported that disease-causing ataxin-3-q79 caused cerebellar malfunction by inducing transcriptional downregulation. |
2015-06-05 |
2023-08-13 |
mouse |
| Jungsu S Oh, Minyoung Oh, Sun Ju Chung, Jae Seung Ki. Cerebellum-specific 18F-FDG PET analysis for the detection of subregional glucose metabolism changes in spinocerebellar ataxia. Neuroreport. vol 25. issue 15. 2015-05-25. PMID:25144395. |
using vois of individual f-fdg pet images normalized to the f-fdg template, we analyzed subregional cerebellar glucose metabolism in patients with spinocerebellar ataxia, a representative disease involving the spinocerebellum, and compared them with age-matched and sex-matched healthy normal controls. |
2015-05-25 |
2023-08-13 |
Not clear |
| Laura Alice Santos de Oliveira, Camilla Polonini Martins, Carlos Henrique Ramos Horsczaruk, Débora Cristina Lima da Silva, José Vicente Pereira Martins, Luiz Felipe Rocha Vasconcelos, Erika de Carvalho Rodrigue. Decreasing fall risk in spinocerebellar ataxia. Journal of physical therapy science. vol 27. issue 4. 2015-05-21. PMID:25995594. |
[purpose] spinocerebellar ataxia consists of a group of autosomal dominant disorders that cause progressive degeneration, mainly in the cerebellum and its connections. |
2015-05-21 |
2023-08-13 |
human |
| Agostina Casamento-Moran, Yen-Ting Chen, MinHyuk Kwon, Amy Snyder, S H Subramony, David E Vaillancourt, Evangelos A Christo. Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity. Frontiers in human neuroscience. vol 9. 2015-04-23. PMID:25904859. |
spinocerebellar ataxia type 6 (sca6) is a genetic disease that causes pure cerebellar degeneration affecting walking, balance, and coordination. |
2015-04-23 |
2023-08-13 |
human |
| Jingmin Ji, Melanie L Hassler, Etsuko Shimobayashi, Nagendher Paka, Raphael Streit, Josef P Kapfhamme. Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. Neurobiology of disease. vol 70. 2015-04-21. PMID:24937631. |
spinocerebellar ataxias (scas) are hereditary diseases leading to purkinje cell degeneration and cerebellar dysfunction. |
2015-04-21 |
2023-08-13 |
mouse |
| Adriana Moro, Renato P Munhoz, Walter O Arruda, Salmo Raskin, Mariana Moscovich, Hélio A G Teiv. Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients. Arquivos de neuro-psiquiatria. vol 72. issue 9. 2015-02-23. PMID:25252228. |
spinocerebellar ataxia type 3 (sca3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. |
2015-02-23 |
2023-08-13 |
Not clear |