| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Elisabetta Indelicato, Alessandra Fanciulli, Jean Pierre Ndayisaba, Wolfgang Nachbauer, Roberta Granata, Julia Wanschitz, Michaela Wagner, Elke R Gizewski, Werner Poewe, Gregor K Wenning, Sylvia Boesc. Autonomic function testing in spinocerebellar ataxia type 2. Clinical autonomic research : official journal of the Clinical Autonomic Research Society. vol 28. issue 3. 2019-08-19. PMID:29435867. |
to assess whether autonomic failure belongs to the clinical spectrum of spinocerebellar ataxia type 2 (sca2), an autosomal dominant genetic disorder showing progressive cerebellar and brainstem dysfunction. |
2019-08-19 |
2023-08-13 |
Not clear |
| Burcu Turkgenc, Burcin Sanlidag, Amber Eker, Aslı Giray, Ozgur Kutuk, Cengiz Yakicier, Aslıhan Tolun, Sehime G Teme. STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. Human mutation. vol 39. issue 10. 2019-08-13. PMID:30058754. |
we present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. in a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240t > c variant in the 3'utr of stub1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (scar16). |
2019-08-13 |
2023-08-13 |
Not clear |
| Jean Ann Maguire, Alyssa L Gagne, Pedro Gonzalez-Alegre, Beverly L Davidson, Vikram Shakkottai, Paul Gadue, Deborah L Frenc. Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene. Stem cell research. vol 34. 2019-08-06. PMID:30611021. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord. |
2019-08-06 |
2023-08-13 |
Not clear |
| Alessandra Zanatta, Carlos Henrique Ferreira Camargo, Francisco Manoel Branco Germiniani, Salmo Raskin, Ana Chrystina de Souza Crippa, Hélio Afonso Ghizoni Teiv. Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2). Cerebellum (London, England). vol 18. issue 2. 2019-07-30. PMID:30264264. |
spinocerebellar ataxia type 2 (sca2) is characterized by a progressive cerebellar syndrome, and additionally saccadic slowing, cognitive dysfunction, and sleep disorders. |
2019-07-30 |
2023-08-13 |
human |
| M Aria. Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia. Neurologia (Barcelona, Spain). vol 34. issue 4. 2019-07-23. PMID:27460185. |
autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. |
2019-07-23 |
2023-08-13 |
Not clear |
| Marc Corral-Juan, Carmen Serrano-Munuera, Alberto Rábano, Daniel Cota-González, Anna Segarra-Roca, Lourdes Ispierto, Antonio Tomás Cano-Orgaz, Astrid D Adarmes, Carlota Méndez-Del-Barrio, Silvia Jesús, Pablo Mir, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez, Antoni Matilla-Dueña. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Brain : a journal of neurology. vol 141. issue 7. 2019-07-17. PMID:29939198. |
we previously reported a novel spinocerebellar ataxia type subtype, sca37, linked to an 11-mb genomic region on 1p32, in a large spanish ataxia pedigree characterized by ataxia and a pure cerebellar syndrome distinctively presenting with early-altered vertical eye movements. |
2019-07-17 |
2023-08-13 |
Not clear |
| Maxime W C Rousseaux, Tyler Tschumperlin, Hsiang-Chih Lu, Elizabeth P Lackey, Vitaliy V Bondar, Ying-Wooi Wan, Qiumin Tan, Carolyn J Adamski, Jillian Friedrich, Kirk Twaroski, Weili Chen, Jakub Tolar, Christine Henzler, Ajay Sharma, Aleksandar Bajić, Tao Lin, Lisa Duvick, Zhandong Liu, Roy V Sillitoe, Huda Y Zoghbi, Harry T Or. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. vol 97. issue 6. 2019-07-15. PMID:29526553. |
atxn1-cic complex is the primary driver of cerebellar pathology in spinocerebellar ataxia type 1 through a gain-of-function mechanism. |
2019-07-15 |
2023-08-13 |
Not clear |
| Maxime W C Rousseaux, Tyler Tschumperlin, Hsiang-Chih Lu, Elizabeth P Lackey, Vitaliy V Bondar, Ying-Wooi Wan, Qiumin Tan, Carolyn J Adamski, Jillian Friedrich, Kirk Twaroski, Weili Chen, Jakub Tolar, Christine Henzler, Ajay Sharma, Aleksandar Bajić, Tao Lin, Lisa Duvick, Zhandong Liu, Roy V Sillitoe, Huda Y Zoghbi, Harry T Or. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. vol 97. issue 6. 2019-07-15. PMID:29526553. |
in spinocerebellar ataxia type 1 (sca1), a gain of function of polyq-expanded ataxin-1 (atxn1) contributes to cerebellar pathology. |
2019-07-15 |
2023-08-13 |
Not clear |
| Maggie M K Wong, Stephanie D Hoekstra, Jane Vowles, Lauren M Watson, Geraint Fuller, Andrea H Németh, Sally A Cowley, Olaf Ansorge, Kevin Talbot, Esther B E Becke. Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. Acta neuropathologica communications. vol 6. issue 1. 2019-06-06. PMID:30249303. |
spinocerebellar ataxia type 14 (sca14) is a subtype of the autosomal dominant cerebellar ataxias that is characterized by slowly progressive cerebellar dysfunction and neurodegeneration. |
2019-06-06 |
2023-08-13 |
human |
| Miwa Higashi, Kokoro Ozaki, Takaaki Hattori, Takashi Ishii, Kazumasa Soga, Nozomu Sato, Makoto Tomita, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokot. A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging. Journal of the neurological sciences. vol 387. 2019-05-28. PMID:29571861. |
two-hundred and two consecutive ataxia patients were clinically classified into 4 groups: (1) spinocerebellar ataxia (sca) with brainstem involvement (sca-bsi), (2) pure cerebellar sca, (3) cerebellar dominant multiple system atrophy (msa-c), and (4) other ca. |
2019-05-28 |
2023-08-13 |
Not clear |
| Chihiro Hisatsune, Kozo Hamada, Katsuhiko Mikoshib. Ca Biochimica et biophysica acta. Molecular cell research. vol 1865. issue 11 Pt B. 2019-05-21. PMID:29777722. |
ca spinocerebellar ataxia (sca) is a neural disorder, which is caused by degenerative changes in the cerebellum. |
2019-05-21 |
2023-08-13 |
Not clear |
| Mario Mascalchi, Alessandra Vell. Neuroimaging Applications in Chronic Ataxias. International review of neurobiology. vol 143. 2019-05-21. PMID:30473193. |
the 39 types of dominantly inherited spinocerebellar ataxias show either cortical cerebellar atrophy or olivopontocerebellar atrophy. |
2019-05-21 |
2023-08-13 |
Not clear |
| Shin-Wu Liu, Jui-Chih Chang, Sheng-Fei Chuang, Ko-Hung Liu, Wen-Ling Cheng, Hui-Ju Chang, Huei-Shin Chang, Ta-Tsung Lin, Ching-Liang Hsieh, Wei-Yong Lin, Mingli Hsieh, Shou-Jen Kuo, Chin-San Li. Far-infrared Radiation Improves Motor Dysfunction and Neuropathology in Spinocerebellar Ataxia Type 3 Mice. Cerebellum (London, England). vol 18. issue 1. 2019-05-20. PMID:29725949. |
spinocerebellar ataxia type 3 (sca3) is a polyglutamine neurodegenerative disease resulting from the misfolding and accumulation of a pathogenic protein, causing cerebellar dysfunction, and this disease currently has no effective treatments. |
2019-05-20 |
2023-08-13 |
mouse |
| Mariana Moscovich, Renato Puppi Munhoz, Adriana Moro, Salmo Raskin, Karen McFarland, Tetsuo Ashizawa, Helio A G Teive, Laura Silveira-Moriyam. Olfactory Function in SCA10. Cerebellum (London, England). vol 18. issue 1. 2019-05-20. PMID:29922950. |
although the main clinical manifestations of spinocerebellar ataxias (scas) result from damage of the cerebellum, other systems may also be involved. |
2019-05-20 |
2023-08-13 |
Not clear |
| Kazunori Nanri, Nobuaki Yoshikura, Akio Kimura, Sayaka Nakayama, Takayuki Otomo, Takayoshi Shimohata, Hiroo Terashi, Tatsuya Sato, Junji Yamad. [Cerebellar Ataxia and Autoantibodies]. Brain and nerve = Shinkei kenkyu no shinpo. vol 70. issue 4. 2019-05-10. PMID:29632285. |
magnetic resonance imaging voxel-based morphometry is also useful because it can detect cortical cerebellar atrophy of autoimmune cerebellar ataxia, different from spinocerebellar ataxia. |
2019-05-10 |
2023-08-13 |
Not clear |
| Yu-Ling Wu, Jui-Chih Chang, Wei-Yong Lin, Chien-Chun Li, Mingli Hsieh, Haw-Wen Chen, Tsu-Shing Wang, Wen-Tzu Wu, Chin-San Liu, Kai-Li Li. Caffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway. Free radical biology & medicine. vol 115. 2019-05-03. PMID:29247688. |
polyglutamine (polyq)-expanded mutant ataxin-3 protein, which is prone to misfolding and aggregation, leads to cerebellar neurotoxicity in spinocerebellar ataxia type 3 (sca3), an inherited polyq neurodegenerative disease. |
2019-05-03 |
2023-08-13 |
drosophila_melanogaster |
| Terri M Driessen, Paul J Lee, Janghoo Li. Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1. eLife. vol 7. 2019-03-28. PMID:30507379. |
the neurodegenerative disorder spinocerebellar ataxia type 1 (sca1) affects the cerebellum and inferior olive, though previous research has focused primarily on the cerebellum. |
2019-03-28 |
2023-08-13 |
mouse |
| Hirokazu Hirai, Masanobu Kan. Type 1 metabotropic glutamate receptor and its signaling molecules as therapeutic targets for the treatment of cerebellar disorders. Current opinion in pharmacology. vol 38. 2019-03-14. PMID:29525719. |
neurodegenerative diseases such as spinocerebellar ataxias and autoantibody-associated disorders of the central nervous system often affect the cerebellum, resulting in motor deficits. |
2019-03-14 |
2023-08-13 |
Not clear |
| Emily Bowie, Ryan Norris, Kathryn V Anderson, Sarah C Goet. Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. PLoS genetics. vol 14. issue 12. 2019-03-04. PMID:30532139. |
spinocerebellar ataxia type 11 (sca11) is a rare, dominantly inherited human ataxia characterized by atrophy of purkinje neurons in the cerebellum. |
2019-03-04 |
2023-08-13 |
human |
| Elan D Louis, Sheng-Han Kuo, William J Tate, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Phyllis L Faus. Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. Cerebellum (London, England). vol 17. issue 2. 2019-02-28. PMID:28791574. |
we (1) quantify heterotopias in et cases vs. controls, (2) compare et cases to other cerebellar degenerative conditions (spinocerebellar ataxias (scas) 1, 2, 3, and 6), (3) compare these scas to one another, and (4) assess heterotopia within the context of associated pc loss in each disease. |
2019-02-28 |
2023-08-13 |
Not clear |