| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Austin Ferro, Emily Carbone, Evan Marzouk, Asher Siegel, Donna Nguyen, Kailen Polley, Jessilyn Hartman, Kimberley Frederick, Stephen Ives, Sarita Lagalwa. Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function. Journal of visualized experiments : JoVE. issue 119. 2018-01-29. PMID:28190022. |
mitochondrial dysfunction plays a significant role in the aging process and in neurodegenerative diseases including several hereditary spinocerebellar ataxias and other movement disorders marked by progressive degeneration of the cerebellum. |
2018-01-29 |
2023-08-13 |
mouse |
| U Rüb, K Seidel, H Heinsen, J P Vonsattel, W F den Dunnen, H W Kor. Huntington's disease (HD): the neuropathology of a multisystem neurodegenerative disorder of the human brain. Brain pathology (Zurich, Switzerland). vol 26. issue 6. 2018-01-17. PMID:27529157. |
the multisystem character of the neuropathology of hd is emphasized by a brain distribution pattern of neurodegeneration (i) which apart from the striatum includes the cerebral neo-and allocortex, thalamus, pallidum, brainstem and cerebellum, and which (ii) therefore, shares more similarities with polyglutamine spinocerebellar ataxias than previously thought. |
2018-01-17 |
2023-08-13 |
human |
| M I Falcon, C M Gomez, E E Chen, A Shereen, A Solodki. Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6. Cerebral cortex (New York, N.Y. : 1991). vol 26. issue 7. 2018-01-15. PMID:26209844. |
early cerebellar network shifting in spinocerebellar ataxia type 6. |
2018-01-15 |
2023-08-13 |
Not clear |
| Austin Ferro, Emily Carbone, Jenny Zhang, Evan Marzouk, Monica Villegas, Asher Siegel, Donna Nguyen, Thomas Possidente, Jessilyn Hartman, Kailen Polley, Melissa A Ingram, Georgia Berry, Thomas H Reynolds, Bernard Possidente, Kimberley Frederick, Stephen Ives, Sarita Lagalwa. Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model. PloS one. vol 12. issue 12. 2017-12-29. PMID:29211771. |
short-term succinic acid treatment mitigates cerebellar mitochondrial oxphos dysfunction, neurodegeneration and ataxia in a purkinje-specific spinocerebellar ataxia type 1 (sca1) mouse model. |
2017-12-29 |
2023-08-13 |
mouse |
| Austin Ferro, Emily Carbone, Jenny Zhang, Evan Marzouk, Monica Villegas, Asher Siegel, Donna Nguyen, Thomas Possidente, Jessilyn Hartman, Kailen Polley, Melissa A Ingram, Georgia Berry, Thomas H Reynolds, Bernard Possidente, Kimberley Frederick, Stephen Ives, Sarita Lagalwa. Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model. PloS one. vol 12. issue 12. 2017-12-29. PMID:29211771. |
in this study, we investigate the role of mitochondrial oxidative phosphorylation (oxphos) deficits in cerebellar tissue of a purkinje cell-driven spinocerebellar ataxia type 1 (sca1) mouse. |
2017-12-29 |
2023-08-13 |
mouse |
| Yoshihito Ishida, Hideshi Kawakami, Hiroyuki Kitajima, Ayaka Nishiyama, Yoshiki Sasai, Haruhisa Inoue, Keiko Mugurum. Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs. Cell reports. vol 17. issue 6. 2017-11-20. PMID:27806289. |
spinocerebellar ataxia type 6 (sca6) is a dominantly inherited neurodegenerative disease characterized by loss of purkinje cells in the cerebellum. |
2017-11-20 |
2023-08-13 |
Not clear |
| Shang-Ran Huang, Yu-Te Wu, Chii-Wen Jao, Bing-Wen Soong, Jiing-Feng Lirng, Hsiu-Mei Wu, Po-Shan Wan. CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. NeuroImage. Clinical. vol 13. 2017-11-17. PMID:27942452. |
cag repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. |
2017-11-17 |
2023-08-13 |
Not clear |
| Shang-Ran Huang, Yu-Te Wu, Chii-Wen Jao, Bing-Wen Soong, Jiing-Feng Lirng, Hsiu-Mei Wu, Po-Shan Wan. CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. NeuroImage. Clinical. vol 13. 2017-11-17. PMID:27942452. |
this cross-sectional study investigated the correlation between the cag repeat length and the degeneration of cerebellum in spinocerebellar ataxia type 3 (sca3) patients based on neuroimaging approaches. |
2017-11-17 |
2023-08-13 |
Not clear |
| G Olivito, M Cercignani, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Bozzali, M Leggi. Neural substrates of motor and cognitive dysfunctions in SCA2 patients: A network based statistics analysis. NeuroImage. Clinical. vol 14. 2017-11-07. PMID:28393013. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs. |
2017-11-07 |
2023-08-13 |
Not clear |
| Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi, Cleo van Diemen, Ewout Brunt, Elly Ippel, Berry Kremer, Monique Vlak, Noam Adir, Cisca Wijmenga, Bart P C van de Warrenburg, Lude Franke, Richard J Sinke, Dineke S Verbee. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain : a journal of neurology. vol 140. issue 11. 2017-11-07. PMID:29053796. |
the autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. |
2017-11-07 |
2023-08-13 |
Not clear |
| Carmen Rodríguez-Cueto, Mariluz Hernández-Gálvez, Cecilia J Hillard, Patricia Maciel, Luis García-García, Sara Valdeolivas, Miguel A Pozo, José A Ramos, María Gómez-Ruiz, Javier Fernández-Rui. Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. Neuroscience. vol 339. 2017-10-30. PMID:27717809. |
dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. |
2017-10-30 |
2023-08-13 |
mouse |
| Esther A R Nibbeling, Cathérine C S Delnooz, Tom J de Koning, Richard J Sinke, Hyder A Jinnah, Marina A J Tijssen, Dineke S Verbee. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis. Neuroscience and biobehavioral reviews. vol 75. 2017-10-24. PMID:28143763. |
the spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. |
2017-10-24 |
2023-08-13 |
Not clear |
| Tessa van Dijk, Peter Barth, Liesbeth Reneman, Bart Appelhof, Frank Baas, Bwee Tien Poll-Th. A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's. American journal of medical genetics. Part A. vol 173. issue 1. 2017-10-19. PMID:27862915. |
a de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: expanding the phenotype of itpr1-related spinocerebellar ataxia's. |
2017-10-19 |
2023-08-13 |
Not clear |
| Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dah. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. European journal of human genetics : EJHG. vol 25. issue 7. 2017-09-28. PMID:28488678. |
spinocerebellar ataxias (sca) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. |
2017-09-28 |
2023-08-13 |
Not clear |
| Anton N Shuvaev, Nobutake Hosoi, Yamato Sato, Dai Yanagihara, Hirokazu Hira. Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. The Journal of physiology. vol 595. issue 1. 2017-09-25. PMID:27440721. |
progressive impairment of cerebellar mglur signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. |
2017-09-25 |
2023-08-13 |
mouse |
| Sheng-Han Kuo, Chi-Ying Lin, Jie Wang, Peter A Sims, Ming-Kai Pan, Jyun-You Liou, Danielle Lee, William J Tate, Geoffrey C Kelly, Elan D Louis, Phyllis L Faus. Climbing fiber-Purkinje cell synaptic pathology in tremor and cerebellar degenerative diseases. Acta neuropathologica. vol 133. issue 1. 2017-09-22. PMID:27704282. |
we assessed cf-pc synaptic pathology in the postmortem cerebellum across a range of degenerative movement disorders [10 parkinson's disease (pd) cases, 10 multiple system atrophy (msa) cases, 10 spinocerebellar ataxia type 1 (sca1) cases, and 20 et cases] and 25 controls. |
2017-09-22 |
2023-08-13 |
Not clear |
| Katsuya Nakamura, Kunihiro Yoshida, Akira Matsushima, Yusaku Shimizu, Shunichi Sato, Hiroyuki Yahikozawa, Shinji Ohara, Masanobu Yazawa, Masao Ushiyama, Mitsuto Sato, Hiroshi Morita, Atsushi Inoue, Shu-Ichi Iked. Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study. Cerebellum (London, England). vol 16. issue 2. 2017-09-22. PMID:27830516. |
spinocerebellar ataxia type 31 (sca31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of sca31 has not been done yet. |
2017-09-22 |
2023-08-13 |
Not clear |
| Sriram Jayabal, Lovisa Ljungberg, Alanna J Wat. Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. The Journal of physiology. vol 595. issue 3. 2017-09-21. PMID:27531396. |
transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. |
2017-09-21 |
2023-08-13 |
mouse |
| Sriram Jayabal, Lovisa Ljungberg, Alanna J Wat. Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. The Journal of physiology. vol 595. issue 3. 2017-09-21. PMID:27531396. |
spinocerebellar ataxia type 6 (sca6) is a midlife-onset neurodegenerative disease caused by a cacna1a mutation; cacna1a is also implicated in cerebellar development. |
2017-09-21 |
2023-08-13 |
mouse |
| Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Water. A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking. PloS one. vol 12. issue 5. 2017-09-19. PMID:28467418. |
the autosomal dominant spinocerebellar ataxias (scas) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. |
2017-09-19 |
2023-08-13 |
human |