| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Arianna Manini, Tommaso Bocci, Alice Migazzi, Edoardo Monfrini, Dario Ronchi, Giulia Franco, Anna De Rosa, Ferdinando Sartucci, Alberto Priori, Stefania Corti, Giacomo Pietro Comi, Nereo Bresolin, Manuela Basso, Alessio Di Fonz. A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation. BMC neurology. vol 20. issue 1. 2021-01-18. PMID:33160304. |
mutations in tgm6 gene, encoding for transglutaminase 6 (tg6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (sca35), a rare autosomal dominant disease marked by cerebellar degeneration and characterized by postural instability, incoordination of gait, features of cerebellar dysfunction and pyramidal signs. |
2021-01-18 |
2023-08-13 |
Not clear |
| Kosuke Matsuzono, Keiko Imamura, Nagahisa Murakami, Kayoko Tsukita, Takuya Yamamoto, Yuishin Izumi, Ryuji Kaji, Yasuyuki Ohta, Toru Yamashita, Koji Abe, Haruhisa Inou. Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs. Molecular therapy. Nucleic acids. vol 8. 2021-01-09. PMID:28918022. |
spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (ggcctg) in the noncoding region of nop56 gene, with a histopathological feature of rna foci formation in postmortem tissues. |
2021-01-09 |
2023-08-13 |
Not clear |
| Anna Nigri, Lidia Sarro, Alessia Mongelli, Chiara Pinardi, Luca Porcu, Anna Castaldo, Stefania Ferraro, Marina Grisoli, Maria Grazia Bruzzone, Cinzia Gellera, Franco Taroni, Caterina Mariotti, Lorenzo Nanett. Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages. Frontiers in neurology. vol 11. 2021-01-02. PMID:33384659. |
progression of cerebellar atrophy in spinocerebellar ataxia type 2 gene carriers: a longitudinal mri study in preclinical and early disease stages. |
2021-01-02 |
2023-08-13 |
Not clear |
| Chi-Wen Jao, Bing-Wen Soong, Tzu-Yun Wang, Hsiu-Mei Wu, Chia-Feng Lu, Po-Shan Wang, Yu-Te W. Intra- and Inter-Modular Connectivity Alterations in the Brain Structural Network of Spinocerebellar Ataxia Type 3. Entropy (Basel, Switzerland). vol 21. issue 3. 2020-12-07. PMID:33267031. |
in addition to cerebellar degeneration symptoms, patients with spinocerebellar ataxia type 3 (sca3) exhibit extensive involvements with damage in the prefrontal cortex. |
2020-12-07 |
2023-08-13 |
human |
| Cigdem Ulasoglu-Yildiz, Hakan Gurvi. Implicit contextual learning in spinocerebellar ataxia. Neuropsychology. vol 34. issue 5. 2020-11-24. PMID:31789569. |
spinocerebellar ataxias (scas) are a family of hereditary degeneration, which is associated with progressive atrophy of the cerebellum. |
2020-11-24 |
2023-08-13 |
Not clear |
| Zohar Elyoseph, Matti Mintz, Eli Vakil, Roy Zaltzman, Carlos R Gordo. Selective Procedural Memory Impairment but Preserved Declarative Memory in Spinocerebellar Ataxia Type 3. Cerebellum (London, England). vol 19. issue 2. 2020-11-23. PMID:31912433. |
spinocerebellar ataxia type 3 (sca3), also known as machado-joseph disease, is an autosomal dominant neurodegenerative disorder that affects mainly the cerebellum and less other brain areas. |
2020-11-23 |
2023-08-13 |
Not clear |
| Filip Tichanek, Martina Salomova, Jan Jedlicka, Jitka Kuncova, Pavel Pitule, Tereza Macanova, Zuzana Petrankova, Zdenek Tuma, Jan Cendeli. Hippocampal mitochondrial dysfunction and psychiatric-relevant behavioral deficits in spinocerebellar ataxia 1 mouse model. Scientific reports. vol 10. issue 1. 2020-11-23. PMID:32214165. |
spinocerebellar ataxia 1 (sca1) is a devastating neurodegenerative disease associated with cerebellar degeneration and motor deficits. |
2020-11-23 |
2023-08-13 |
mouse |
| Mario Mascalchi, Alessandra Vell. Neuroimaging Biomarkers in SCA2 Gene Carriers. International journal of molecular sciences. vol 21. issue 3. 2020-11-17. PMID:32033120. |
proton mr spectroscopy reveals, in the pons and cerebellum of sca2 gene carriers,a more pronounced degree of abnormal neurochemical profile compared to other spinocerebellar ataxias with decreased naa/cr and cho/cr, increased mi/cr ratios, and decreased naa and increased mi concentrations. |
2020-11-17 |
2023-08-13 |
human |
| Alessandro Didonna, Ester Canto Puig, Qin Ma, Atsuko Matsunaga, Brenda Ho, Stacy J Caillier, Hengameh Shams, Nicholas Lee, Stephen L Hauser, Qiumin Tan, Scott S Zamvil, Jorge R Oksenber. Ataxin-1 regulates B cell function and the severity of autoimmune experimental encephalomyelitis. Proceedings of the National Academy of Sciences of the United States of America. vol 117. issue 38. 2020-11-17. PMID:32878998. |
mutant forms of ataxin-1 containing expanded glutamine stretches cause the movement disorder spinocerebellar ataxia type 1 (sca1) through a toxic gain-of-function mechanism in the cerebellum. |
2020-11-17 |
2023-08-13 |
Not clear |
| Minkyeong Kim, Jong Hyeon Ahn, Yoonsu Cho, Ji Sun Kim, Jinyoung Youn, Jin Whan Ch. Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias. Scientific reports. vol 9. issue 1. 2020-11-03. PMID:31758059. |
differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias. |
2020-11-03 |
2023-08-13 |
Not clear |
| Minkyeong Kim, Jong Hyeon Ahn, Yoonsu Cho, Ji Sun Kim, Jinyoung Youn, Jin Whan Ch. Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias. Scientific reports. vol 9. issue 1. 2020-11-03. PMID:31758059. |
clinically differentiating multiple system atrophy cerebellar (msa-c) phenotype and spinocerebellar ataxias (scas) is challenging especially in the early stage. |
2020-11-03 |
2023-08-13 |
Not clear |
| Nassier Harfouch, Mark Finkelstein, Swati Sathe, Mark Raden, Arnold I Brenne. The Use of FDG PET Parametric Imaging in the Diagnosis of Olivopontocerebellar Atrophy. Clinical nuclear medicine. vol 45. issue 9. 2020-10-29. PMID:32657870. |
we present a case involving a 66-year-old man with adult-onset progressing cerebellar signs reflective of a cerebellar syndrome with no significant family history and unremarkable genetic testing for spinocerebellar ataxia. |
2020-10-29 |
2023-08-13 |
Not clear |
| Walter Oleschko Arruda, Alex Tiburtino Meira, Sergio Eiji Ono, Arnolfo de Carvalho Neto, Matheus Gomes Ferreira, Salmo Raskin, Carlos Henrique Ferreira Camargo, Tetsuo Ashizawa, Hélio Afonso Ghizoni Teiv. Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism & related disorders. vol 76. 2020-10-27. PMID:32199743. |
cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. |
2020-10-27 |
2023-08-13 |
Not clear |
| Carlos R Hernandez-Castillo, Astrid Rasmussen, Juan Fernandez-Rui. Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. The devil is in the details. Parkinsonism & related disorders. vol 76. 2020-10-27. PMID:32205044. |
cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. |
2020-10-27 |
2023-08-13 |
Not clear |
| Dinesh K Deelchand, James M Joers, Adarsh Ravishankar, Tianmeng Lyu, Uzay E Emir, Diane Hutter, Christopher M Gomez, Khalaf O Bushara, Christophe Lenglet, Lynn E Eberly, Gülin Ö. Sensitivity of Volumetric Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy to Progression of Spinocerebellar Ataxia Type 1. Movement disorders clinical practice. vol 6. issue 7. 2020-10-23. PMID:31538089. |
spinocerebellar ataxia type 1 (sca1) causes progressive degeneration of the cerebellum and brainstem. |
2020-10-23 |
2023-08-13 |
Not clear |
| Chih-Chun Lin, Tetsuo Ashizawa, Sheng-Han Ku. Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA. Frontiers in neurology. vol 11. 2020-10-03. PMID:32982927. |
spinocerebellar ataxias are progressive neurodegenerative disorders primarily affecting the cerebellum. |
2020-10-03 |
2023-08-13 |
Not clear |
| S Mazdak Abulnaga, Zhen Yang, Aaron Carass, Kalyani Kansal, Bruno M Jedynak, Chiadi U Onyike, Sarah H Ying, Jerry L Princ. A toolbox to visually explore cerebellar shape changes in cerebellar disease and dysfunction. Proceedings of SPIE--the International Society for Optical Engineering. vol 9785. 2020-10-01. PMID:28479655. |
the spinocerebellar ataxias are a group of neurodegenerative diseases that cause regional atrophy in the cerebellum, yielding distinct motor and cognitive problems. |
2020-10-01 |
2023-08-13 |
human |
| Yoshiaki Takahashi, Yasuhiro Manabe, Ryuta Morihara, Hisashi Narai, Toru Yamashita, Koji Ab. Neuromyelitis Optica Spectrum Disorder Coinciding with Spinocerebellar Ataxia Type 31. Case reports in neurology. vol 9. issue 2. 2020-10-01. PMID:28626410. |
we report the unusual case of a 63-year-old man with spinocerebellar ataxia (sca) type 31 who developed neuromyelitis optica spectrum disorder (nmosd) 14 years after the onset of cerebellar symptoms. |
2020-10-01 |
2023-08-13 |
Not clear |
| Ming-Kuei Lu, Jui-Cheng Chen, Chun-Ming Chen, Jeng-Ren Duann, Ulf Ziemann, Chon-Haw Tsa. Impaired Cerebellum to Primary Motor Cortex Associative Plasticity in Parkinson's Disease and Spinocerebellar Ataxia Type 3. Frontiers in neurology. vol 8. 2020-10-01. PMID:28900413. |
impaired cerebellum to primary motor cortex associative plasticity in parkinson's disease and spinocerebellar ataxia type 3. |
2020-10-01 |
2023-08-13 |
human |
| Ming-Kuei Lu, Jui-Cheng Chen, Chun-Ming Chen, Jeng-Ren Duann, Ulf Ziemann, Chon-Haw Tsa. Impaired Cerebellum to Primary Motor Cortex Associative Plasticity in Parkinson's Disease and Spinocerebellar Ataxia Type 3. Frontiers in neurology. vol 8. 2020-10-01. PMID:28900413. |
functional perturbation of the cerebellum (cb)-motor cortex (m1) interactions may underlie pathophysiology of movement disorders, such as parkinson's disease (pd) and spinocerebellar ataxia type 3 (sca3). |
2020-10-01 |
2023-08-13 |
human |