| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lauren R Moore, Laura Keller, David D Bushart, Rodrigo G Delatorre, Duojia Li, Hayley S McLoughlin, Maria do Carmo Costa, Vikram G Shakkottai, Gary D Smith, Henry L Paulso. Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line. Stem cell research. vol 39. 2020-04-27. PMID:31374463. |
spinocerebellar ataxia type 3 (sca3) is a fatal, late-onset neurodegenerative disorder characterized by selective neuropathology in the brainstem, cerebellum, spinal cord, and substantia nigra. |
2020-04-27 |
2023-08-13 |
human |
| Hongyu Yuan, Huihua Yang, Linliu Peng, Yun Peng, Zhao Chen, Linlin Wan, Chunrong Wang, Yuting Shi, Victor Wei Zhang, Beisha Tang, Rong Qiu, Hong Jian. Profiling of mitochondrial genomes in SCA3/MJD patients from mainland China. Gene. vol 738. 2020-04-27. PMID:32087274. |
spinocerebellar ataxia type 3, also known as machado-joseph disease (sca3/mjd), is the most common type of autosomal dominant cerebellar ataxias. |
2020-04-27 |
2023-08-13 |
Not clear |
| Weifeng Li, Jiajun Zhuang, Zhiqiang Guo, Jeffery A Jones, Zhiqin Xu, Hanjun Li. Cerebellar contribution to auditory feedback control of speech production: Evidence from patients with spinocerebellar ataxia. Human brain mapping. vol 40. issue 16. 2020-04-14. PMID:31365181. |
cerebellar contribution to auditory feedback control of speech production: evidence from patients with spinocerebellar ataxia. |
2020-04-14 |
2023-08-13 |
human |
| Christopher A Jenkins, Lajos Kalmar, Kaspar Matiasek, Lorenzo Mari, Kaisa Kyöstilä, Hannes Lohi, Ellen C Schofield, Cathryn S Mellersh, Luisa De Risio, Sally L Rickett. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS genetics. vol 16. issue 1. 2020-04-13. PMID:31999692. |
the voltage-gated potassium channel protein kcnd3 has previously been implicated in spinocerebellar ataxia, and our findings suggest that the kv4 channel complex kcnip accessory subunits also have an essential role in voltage-gated potassium channel function in the cerebellum and should be investigated as potential candidate genes for cerebellar ataxia in future studies in other species. |
2020-04-13 |
2023-08-13 |
dog |
| Chieh-Sen Chuang, Jui-Chih Chang, Bing-Wen Soong, Sheng-Fei Chuang, Ta-Tsung Lin, Wen-Ling Cheng, Harry T Orr, Chin-San Li. Treadmill training increases the motor activity and neuron survival of the cerebellum in a mouse model of spinocerebellar ataxia type 1. The Kaohsiung journal of medical sciences. vol 35. issue 11. 2020-04-06. PMID:31271500. |
treadmill training increases the motor activity and neuron survival of the cerebellum in a mouse model of spinocerebellar ataxia type 1. |
2020-04-06 |
2023-08-13 |
mouse |
| Abhishek Lenka, Elan D Loui. Revisiting the Clinical Phenomenology of "Cerebellar Tremor": Beyond the Intention Tremor. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30565088. |
these include spinocerebellar ataxias, essential tremor, orthostatic tremor, dystonia, acute cerebellitis, cerebellar tumors, paraneoplastic cerebellar degeneration, and cerebellar strokes. |
2019-12-06 |
2023-08-13 |
Not clear |
| Pietro B Azevedo, Anastácia G Rocha, Leda M N Keim, Daniel Lavinsky, Gabriel V Furtado, Eduardo P de Mattos, Fernando R Vargas, Vanessa B Leotti, Maria-Luiza Saraiva-Pereira, Laura B Jardi. Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30637674. |
spinocerebellar ataxia type 7 (sca7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. |
2019-12-06 |
2023-08-13 |
human |
| Ruo-Yah Lai, Darya Tomishon, Karla P Figueroa, Stefan M Pulst, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Sheng-Han Ku. Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30830673. |
to further test this hypothesis, we studied the occurrence of tremor in different disease stages of classical cerebellar degenerative disorders: spinocerebellar ataxias (scas). |
2019-12-06 |
2023-08-13 |
Not clear |
| Michela Lupo, Giusy Olivito, Claudia Iacobacci, Silvia Clausi, Silvia Romano, Marcella Masciullo, Marco Molinari, Mara Cercignani, Marco Bozzali, Maria Leggi. The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2. Cortex; a journal devoted to the study of the nervous system and behavior. vol 108. 2019-11-26. PMID:30121445. |
the cerebellar topography of attention sub-components in spinocerebellar ataxia type 2. |
2019-11-26 |
2023-08-13 |
human |
| Michela Lupo, Giusy Olivito, Claudia Iacobacci, Silvia Clausi, Silvia Romano, Marcella Masciullo, Marco Molinari, Mara Cercignani, Marco Bozzali, Maria Leggi. The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2. Cortex; a journal devoted to the study of the nervous system and behavior. vol 108. 2019-11-26. PMID:30121445. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome and multiple-domain cognitive impairments. |
2019-11-26 |
2023-08-13 |
human |
| C J L M Smeets, D S Verbee. Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration. Biochimica et biophysica acta. vol 1842. issue 10. 2019-11-20. PMID:24726947. |
these include among others, the dominantly inherited spinocerebellar ataxias, recessive cerebellar ataxias such as friedreich's ataxia, and x-linked cerebellar ataxias. |
2019-11-20 |
2023-08-13 |
Not clear |
| Sui H Wong, Leena Patel, Gordon T Plan. Acquired Esotropia in Cerebellar Disease: A Case Series Illustrating Misdiagnosis as Isolated Lateral Rectus Paresis and Progression Over Time. Neuro-ophthalmology (Aeolus Press). vol 39. issue 2. 2019-11-20. PMID:27928333. |
causes of cerebellar dysfunction were familial cerebellar ataxia of unknown mutation (two patients), idiopathic cerebellar ataxia (four patients), and spinocerebellar ataxia 3 (one patient). |
2019-11-20 |
2023-08-13 |
Not clear |
| Kathrin Reetz, Roberto Rodríguez-Labrada, Imis Dogan, Shahram Mirzazade, Sandro Romanzetti, Jörg B Schulz, Edilia M Cruz-Rivas, Jose A Alvarez-Cuesta, Raul Aguilera Rodríguez, Yanetza Gonzalez Zaldivar, Georg Auburger, Luis Velázquez-Pére. Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2. Annals of clinical and translational neurology. vol 5. issue 2. 2019-11-20. PMID:29468174. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. |
2019-11-20 |
2023-08-13 |
Not clear |
| Ge Dang, Xiaolin Su, Zhifan Zhou, Sixuan Che, Silin Zeng, Siyan Chen, Yi Gu. Beneficial effects of cerebellar rTMS stimulation on a patient with spinocerebellar ataxia type 6. Brain stimulation. vol 12. issue 3. 2019-11-20. PMID:30594491. |
beneficial effects of cerebellar rtms stimulation on a patient with spinocerebellar ataxia type 6. |
2019-11-20 |
2023-08-13 |
Not clear |
| Chiara Marzi, Stefano Ciulli, Marco Giannelli, Andrea Ginestroni, Carlo Tessa, Mario Mascalchi, Stefano Diciott. Structural Complexity of the Cerebellum and Cerebral Cortex is Reduced in Spinocerebellar Ataxia Type 2. Journal of neuroimaging : official journal of the American Society of Neuroimaging. vol 28. issue 6. 2019-11-11. PMID:29975004. |
structural complexity of the cerebellum and cerebral cortex is reduced in spinocerebellar ataxia type 2. |
2019-11-11 |
2023-08-13 |
Not clear |
| Michela Ripolone, Valeria Lucchini, Dario Ronchi, Gigliola Fagiolari, Andreina Bordoni, Francesco Fortunato, Stefania Mondello, Sara Bonato, Mirella Meregalli, Yvan Torrente, Stefania Corti, Giacomo P Comi, Maurizio Moggio, Monica Sciacc. Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1. Journal of neuroscience research. vol 96. issue 9. 2019-11-11. PMID:30113722. |
spinocerebellar ataxias (scas) are a genetically heterogeneous group of cerebellar degenerative disorders, characterized by progressive gait unsteadiness, hand incoordination, and dysarthria. |
2019-11-11 |
2023-08-13 |
mouse |
| Roderick P P W M Maas, Ivan Toni, Jonne Doorduin, Thomas Klockgether, Dennis J L G Schutter, Bart P C van de Warrenbur. Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study. BMC neurology. vol 19. issue 1. 2019-11-04. PMID:31272408. |
cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (sca3-tdcs): rationale and protocol of a randomized, double-blind, sham-controlled study. |
2019-11-04 |
2023-08-13 |
Not clear |
| Roderick P P W M Maas, Ivan Toni, Jonne Doorduin, Thomas Klockgether, Dennis J L G Schutter, Bart P C van de Warrenbur. Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study. BMC neurology. vol 19. issue 1. 2019-11-04. PMID:31272408. |
spinocerebellar ataxia type 3 (sca3) is the most common subtype among the autosomal dominant cerebellar ataxias, a group of neurodegenerative disorders for which currently no disease-specific therapy is available. |
2019-11-04 |
2023-08-13 |
Not clear |
| Christopher J Dakin, Amy Peters, Paola Giunti, Brian L Da. Cerebellar Degeneration Increases Visual Influence on Dynamic Estimates of Verticality. Current biology : CB. vol 28. issue 22. 2019-10-23. PMID:30393031. |
here we show that a perceptual disturbance of verticality is indeed present in people with a genetically determined and pure form of cerebellar degeneration (spinocerebellar ataxia type 6; sca 6), but is only revealed under dynamic visual conditions. |
2019-10-23 |
2023-08-13 |
human |
| Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Sege. Mitochondrial Journal of medical genetics. vol 55. issue 9. 2019-10-17. PMID:29764912. |
mitochondrial to identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. |
2019-10-17 |
2023-08-13 |
Not clear |