| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Chenchen Niu, Thazah P Prakash, Aneeza Kim, John L Quach, Laryssa A Huryn, Yuechen Yang, Edith Lopez, Ali Jazayeri, Gene Hung, Bryce L Sopher, Brian P Brooks, Eric E Swayze, C Frank Bennett, Albert R La Spad. Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. Science translational medicine. vol 10. issue 465. 2019-10-11. PMID:30381411. |
spinocerebellar ataxia type 7 (sca7) is an autosomal dominant neurodegenerative disorder characterized by cerebellar and retinal degeneration, and is caused by a cag-polyglutamine repeat expansion in the |
2019-10-11 |
2023-08-13 |
mouse |
| Doniparthi Venkata Seshagiri, Arun Sasidharan, Gulshan Kumar, Pramod Kumar Pal, Sanjeev Jain, Bindu M Kutty, Ravi Yada. Challenges in sleep stage R scoring in patients with autosomal dominant spinocerebellar ataxias (SCA1, SCA2 and SCA3) and oculomotor abnormalities: a whole night polysomnographic evaluation. Sleep medicine. vol 42. 2019-09-19. PMID:29458753. |
spinocerebellar ataxias are progressive neurodegenerative disorders characterized by progressive cerebellar features with additional neuro-axis involvement. |
2019-09-19 |
2023-08-13 |
Not clear |
| Yuan-Shih Hu, Jeehaeh Do, Chandrakanth Reddy Edamakanti, Ameet R Kini, Marco Martina, Samuel I Stupp, Puneet Opa. Self-assembling vascular endothelial growth factor nanoparticles improve function in spinocerebellar ataxia type 1. Brain : a journal of neurology. vol 142. issue 2. 2019-09-19. PMID:30649233. |
we showed previously that the angiogenic and neurotrophic cytokine, vascular endothelial growth factor (vegf), is suppressed to abnormally low levels in spinocerebellar ataxia type 1 (sca1), and that replenishing vegf reverses the cerebellar pathology in sca1 mice. |
2019-09-19 |
2023-08-13 |
mouse |
| Chandrakanth Reddy Edamakanti, Jeehaeh Do, Alessandro Didonna, Marco Martina, Puneet Opa. Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. The Journal of clinical investigation. vol 128. issue 6. 2019-09-10. PMID:29533923. |
mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. |
2019-09-10 |
2023-08-13 |
mouse |
| David Genis, Sara Ortega-Cubero, Hector San Nicolás, Jordi Corral, Josep Gardenyes, Laura de Jorge, Eva López, Berta Campos, Elena Lorenzo, Raúl Tonda, Sergi Beltran, Montserrat Negre, María Obón, Brigitte Beltran, Laura Fàbregas, Berta Alemany, Fabián Márquez, Lluís Ramió-Torrentà, Jordi Gich, Víctor Volpini, Pau Pasto. Heterozygous Neurology. vol 91. issue 21. 2019-09-06. PMID:30381368. |
heterozygous to describe a new spinocerebellar ataxia (sca48) characterized by early cerebellar cognitive-affective syndrome (ccas) and late-onset sca. |
2019-09-06 |
2023-08-13 |
Not clear |
| Thiago Junqueira Ribeiro Rezende, Jean Levi Ribeiro de Paiva, Alberto Rolim Muro Martinez, Iscia Lopes-Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Fernando Cendes, Marcondes C Franç. Structural signature of SCA3: From presymptomatic to late disease stages. Annals of neurology. vol 84. issue 3. 2019-08-22. PMID:30014526. |
machado-joseph disease (sca3/mjd) is the most frequent spinocerebellar ataxia worldwide and characterized by brainstem, basal ganglia, and cerebellar damage. |
2019-08-22 |
2023-08-13 |
human |
| 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 |