| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Kay Seidel, Sonny Siswanto, Michaela Fredrich, Mohamed Bouzrou, Wilfred F A den Dunnen, Inci Özerden, Horst-Werner Korf, Bela Melegh, Jeroen J de Vries, Ewout R Brunt, Georg Auburger, Udo Rü. On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3. Brain pathology (Zurich, Switzerland). vol 27. issue 3. 2017-04-24. PMID:27377427. |
on the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3. |
2017-04-24 |
2023-08-13 |
Not clear |
| Kay Seidel, Sonny Siswanto, Michaela Fredrich, Mohamed Bouzrou, Wilfred F A den Dunnen, Inci Özerden, Horst-Werner Korf, Bela Melegh, Jeroen J de Vries, Ewout R Brunt, Georg Auburger, Udo Rü. On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3. Brain pathology (Zurich, Switzerland). vol 27. issue 3. 2017-04-24. PMID:27377427. |
the aim of this study was to characterize the aggregation pathology in the brainstem of spinocerebellar ataxia type 2 (sca2) and 3 (sca3) patients. |
2017-04-24 |
2023-08-13 |
Not clear |
| Lipin Liang, Tao Chen, Yan W. The electrophysiology of spinocerebellar ataxias. Neurophysiologie clinique = Clinical neurophysiology. vol 46. issue 1. 2016-12-13. PMID:26947625. |
spinocerebellar ataxias (scas) are a group of autosomal dominantly inherited neurodegenerative diseases, involving the cerebellum and the brainstem. |
2016-12-13 |
2023-08-13 |
Not clear |
| Nura Hamidu Alkali, Sunday A Bwala, Saeed A Alimi, Shyngle I Oyakhir. Spinocerebellar ataxia type-7: Report of a family in Northwest Nigeria. Annals of African medicine. vol 15. issue 2. 2016-09-16. PMID:27044733. |
spinocerebellar ataxia type-7 (sca7) is a cytosine-adenine-guanine (cag) repeat polyglutamine disorder characterized by progressive degeneration of the cerebellum, brainstem, spinal cord, and retina. |
2016-09-16 |
2023-08-13 |
Not clear |
| Carlos R Hernandez-Castillo, Víctor Galvez, Roberto E Mercadillo, Rosalinda Díaz, Petra Yescas, Leticia Martinez, Adriana Ochoa, Luis Velazquez-Perez, Juan Fernandez-Rui. Functional connectivity changes related to cognitive and motor performance in spinocerebellar ataxia type 2. Movement disorders : official journal of the Movement Disorder Society. vol 30. issue 10. 2016-06-17. PMID:26256273. |
several neuropathological studies in spinocerebellar ataxia type 2 (sca2) have revealed significant atrophy of the cerebellum, brainstem, sensorimotor cortex, and several regions in the frontal lobe. |
2016-06-17 |
2023-08-13 |
Not clear |
| Megan S Keiser, Jeffrey H Kordower, Pedro Gonzalez-Alegre, Beverly L Davidso. Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy. Brain : a journal of neurology. vol 138. issue Pt 12. 2016-05-04. PMID:26490326. |
spinocerebellar ataxia type 1 is one of nine polyglutamine expansion diseases and is characterized by cerebellar ataxia and neuronal degeneration in the cerebellum and brainstem. |
2016-05-04 |
2023-08-13 |
mouse |
| Jian-Wen Chen, Li Zhao, Feng Zhang, Lan Li, Yu-Hang Gu, Jing-Yuan Zhou, Hui Zhang, Ming Meng, Kai-Hua Zhang, Wei-Dong Le, Chun-Bo Don. Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias. Chinese medical journal. vol 128. issue 13. 2016-03-15. PMID:26112709. |
spinocerebellar ataxias (scas) are a group of neurodegenerative disorders that primarily cause the degeneration in the cerebellum, spinal cord, and brainstem. |
2016-03-15 |
2023-08-13 |
Not clear |
| K Sato, K Ishigame, S H Ying, K Oishi, M I Miller, S Mor. Macro- and microstructural changes in patients with spinocerebellar ataxia type 6: assessment of phylogenetic subdivisions of the cerebellum and the brain stem. AJNR. American journal of neuroradiology. vol 36. issue 1. 2016-01-14. PMID:25169926. |
macro- and microstructural changes in patients with spinocerebellar ataxia type 6: assessment of phylogenetic subdivisions of the cerebellum and the brain stem. |
2016-01-14 |
2023-08-13 |
Not clear |
| T J R de Rezende, A D'Abreu, R P Guimarães, T M Lopes, I Lopes-Cendes, F Cendes, G Castellano, M C Franç. Cerebral cortex involvement in Machado-Joseph disease. European journal of neurology. vol 22. issue 2. 2015-11-03. PMID:25251537. |
machado-joseph disease (mjd/sca3) is the most frequent spinocerebellar ataxia, characterized by brainstem, basal ganglia and cerebellar damage. |
2015-11-03 |
2023-08-13 |
Not clear |
| Anja Mähler, Jochen Steiniger, Matthias Endres, Friedemann Paul, Michael Boschmann, Sarah Dos. Increased catabolic state in spinocerebellar ataxia type 1 patients. Cerebellum (London, England). vol 13. issue 4. 2015-02-09. PMID:24604678. |
autosomal dominant spinocerebellar ataxia type 1 (sca1) is a genetic movement disorder with neuronal loss in the cerebellum, brainstem, and other cerebral regions. |
2015-02-09 |
2023-08-12 |
Not clear |
| Parminder J S Vig, Scoty M Hearst, Qingmei Shao, Maripar E Lope. Knockdown of acid-sensing ion channel 1a (ASIC1a) suppresses disease phenotype in SCA1 mouse model. Cerebellum (London, England). vol 13. issue 4. 2015-02-09. PMID:24788087. |
the mutated ataxin-1 protein in spinocerebellar ataxia 1 (sca1) targets purkinje cells (pcs) of the cerebellum and causes progressive ataxia due to loss of pcs and neurons of the brainstem. |
2015-02-09 |
2023-08-13 |
mouse |
| Jonathan J Magaña, Yessica S Tapia-Guerrero, Luis Velázquez-Pérez, Tania Cruz-Mariño, Cesar M Cerecedo-Zapata, Rocío Gómez, Nadia M Murillo-Melo, Rigoberto González-Piña, Oscar Hernández-Hernández, Bulmaro Cisnero. Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. International journal of clinical and experimental medicine. vol 7. issue 12. 2015-02-09. PMID:25664129. |
spinocerebellar ataxia type 7 (sca7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a cag repeat located in the atxn7 gene encoding sequence on chromosome 3p21.1. |
2015-02-09 |
2023-08-13 |
Not clear |
| Megan S Keiser, Ryan L Boudreau, Beverly L Davidso. Broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei: implications for spinocerebellar ataxia type 1 therapy. Molecular therapy : the journal of the American Society of Gene Therapy. vol 22. issue 3. 2014-11-03. PMID:24419082. |
spinocerebellar ataxia type 1 (sca1) is an autosomal dominant, late-onset neurodegenerative disease caused by a polyglutamine (polyq) expansion in the ataxin-1 protein, which causes progressive neurodegeneration in cerebellar purkinje cells and brainstem nuclei. |
2014-11-03 |
2023-08-12 |
mouse |