Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Roberto Emmanuele Mercadillo, Víctor Galvez, Rosalinda Díaz, Lorena Paredes, Javier Velázquez-Moctezuma, Carlos R Hernandez-Castillo, Juan Fernandez-Rui. Social and Cultural Elements Associated with Neurocognitive Dysfunctions in Spinocerebellar Ataxia Type 2 Patients. Frontiers in psychiatry. vol 6. 2015-06-26. PMID:26113822. |
spinocerebellar ataxia type 2 (sca2) is a rare genetic disorder producing cerebellar degeneration and affecting motor abilities. |
2015-06-26 |
2023-08-13 |
human |
Katherine E Hekman, Christopher M Gome. The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability. Journal of neurology, neurosurgery, and psychiatry. vol 86. issue 5. 2015-06-22. PMID:25136055. |
the spinocerebellar ataxias are a genetically heterogeneous group of disorders with clinically overlapping phenotypes arising from purkinje cell degeneration, cerebellar atrophy and varying degrees of degeneration of other grey matter regions. |
2015-06-22 |
2023-08-13 |
Not clear |
Marcus Vinicius Cristino de Albuquerque, José Luiz Pedroso, Pedro Braga Neto, Orlando Graziani Povoas Barsottin. Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias. Arquivos de neuro-psiquiatria. vol 73. issue 1. 2015-06-19. PMID:25608122. |
spinocerebellar ataxia type 7 (sca7) is caused by an abnormal cag repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. |
2015-06-19 |
2023-08-13 |
Not clear |
Ji Sun Kim, Jin Whan Ch. Hereditary Cerebellar Ataxias: A Korean Perspective. Journal of movement disorders. vol 8. issue 2. 2015-06-19. PMID:26090078. |
more than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. |
2015-06-19 |
2023-08-13 |
Not clear |
An-Hsun Chou, Ying-Ling Chen, Su-Huei Hu, Ya-Ming Chang, Hung-Li Wan. Polyglutamine-expanded ataxin-3 impairs long-term depression in Purkinje neurons of SCA3 transgenic mouse by inhibiting HAT and impairing histone acetylation. Brain research. vol 1583. 2015-06-05. PMID:25139423. |
our previous study using a transgenic mouse model of spinocerebellar ataxia type 3 (sca3) reported that disease-causing ataxin-3-q79 caused cerebellar malfunction by inducing transcriptional downregulation. |
2015-06-05 |
2023-08-13 |
mouse |
Jungsu S Oh, Minyoung Oh, Sun Ju Chung, Jae Seung Ki. Cerebellum-specific 18F-FDG PET analysis for the detection of subregional glucose metabolism changes in spinocerebellar ataxia. Neuroreport. vol 25. issue 15. 2015-05-25. PMID:25144395. |
using vois of individual f-fdg pet images normalized to the f-fdg template, we analyzed subregional cerebellar glucose metabolism in patients with spinocerebellar ataxia, a representative disease involving the spinocerebellum, and compared them with age-matched and sex-matched healthy normal controls. |
2015-05-25 |
2023-08-13 |
Not clear |
Laura Alice Santos de Oliveira, Camilla Polonini Martins, Carlos Henrique Ramos Horsczaruk, Débora Cristina Lima da Silva, José Vicente Pereira Martins, Luiz Felipe Rocha Vasconcelos, Erika de Carvalho Rodrigue. Decreasing fall risk in spinocerebellar ataxia. Journal of physical therapy science. vol 27. issue 4. 2015-05-21. PMID:25995594. |
[purpose] spinocerebellar ataxia consists of a group of autosomal dominant disorders that cause progressive degeneration, mainly in the cerebellum and its connections. |
2015-05-21 |
2023-08-13 |
human |
Agostina Casamento-Moran, Yen-Ting Chen, MinHyuk Kwon, Amy Snyder, S H Subramony, David E Vaillancourt, Evangelos A Christo. Force dysmetria in spinocerebellar ataxia 6 correlates with functional capacity. Frontiers in human neuroscience. vol 9. 2015-04-23. PMID:25904859. |
spinocerebellar ataxia type 6 (sca6) is a genetic disease that causes pure cerebellar degeneration affecting walking, balance, and coordination. |
2015-04-23 |
2023-08-13 |
human |
Jingmin Ji, Melanie L Hassler, Etsuko Shimobayashi, Nagendher Paka, Raphael Streit, Josef P Kapfhamme. Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. Neurobiology of disease. vol 70. 2015-04-21. PMID:24937631. |
spinocerebellar ataxias (scas) are hereditary diseases leading to purkinje cell degeneration and cerebellar dysfunction. |
2015-04-21 |
2023-08-13 |
mouse |
Adriana Moro, Renato P Munhoz, Walter O Arruda, Salmo Raskin, Mariana Moscovich, Hélio A G Teiv. Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients. Arquivos de neuro-psiquiatria. vol 72. issue 9. 2015-02-23. PMID:25252228. |
spinocerebellar ataxia type 3 (sca3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. |
2015-02-23 |
2023-08-13 |
Not clear |
Yvonne L Clarkson, Emma M Perkins, Callum J Cairncross, Alastair R Lyndon, Paul A Skehel, Mandy Jackso. β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. Human molecular genetics. vol 23. issue 14. 2015-02-09. PMID:24603075. |
spinocerebellar ataxia type 5 (sca5) and spectrin associated autosomal recessive cerebellar ataxia type 1 are human neurodegenerative diseases involving progressive gait ataxia and cerebellar atrophy. |
2015-02-09 |
2023-08-12 |
human |
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 |
Jennifer Y Tan, Keith W Vance, Miguel A Varela, Tamara Sirey, Lauren M Watson, Helen J Curtis, Martina Marinello, Sandro Alves, Bruno Steinkraus, Sarah Cooper, Tatyana Nesterova, Neil Brockdorff, Tudor Fulga, Alexis Brice, Annie Sittler, Peter L Oliver, Matthew J Wood, Chris P Ponting, Ana C Marque. Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7. Nature structural & molecular biology. vol 21. issue 11. 2015-01-06. PMID:25306109. |
specifically, in spinocerebellar ataxia type 7 (sca7), a neurodegenerative disorder caused by a cag-repeat expansion in atxn7 (which encodes an essential component of the mammalian transcription coactivation complex, staga), the factors underlying the characteristic progressive cerebellar and retinal degeneration in patients were unknown. |
2015-01-06 |
2023-08-13 |
mouse |
Serina Matsuura, Anton N Shuvaev, Akira Iizuka, Kazuhiro Nakamura, Hirokazu Hira. Mesenchymal stem cells ameliorate cerebellar pathology in a mouse model of spinocerebellar ataxia type 1. Cerebellum (London, England). vol 13. issue 3. 2014-12-22. PMID:24242763. |
mesenchymal stem cells ameliorate cerebellar pathology in a mouse model of spinocerebellar ataxia type 1. |
2014-12-22 |
2023-08-12 |
mouse |
Carmen Rodríguez-Cueto, Cristina Benito, Julián Romero, Mariluz Hernández-Gálvez, María Gómez-Ruiz, Javier Fernández-Rui. Endocannabinoid-hydrolysing enzymes in the post-mortem cerebellum of humans affected by hereditary autosomal dominant ataxias. Pathobiology : journal of immunopathology, molecular and cellular biology. vol 81. issue 3. 2014-12-17. PMID:24642775. |
spinocerebellar ataxias (scas) are characterized by a loss of balance and motor coordination due to degeneration of the cerebellum and its afferent and efferent connections. |
2014-12-17 |
2023-08-12 |
Not clear |
Tomohiko Irie, Yasunori Matsuzaki, Yuko Sekino, Hirokazu Hira. Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells. The Journal of physiology. vol 592. issue 1. 2014-11-11. PMID:24218544. |
spinocerebellar ataxia type 13 (sca13) is an autosomal dominant disease, and sca13 patients exhibit cerebellar atrophy and cerebellar symptoms. |
2014-11-11 |
2023-08-12 |
mouse |
M Rossi, S Perez-Lloret, L Doldan, D Cerquetti, J Balej, P Millar Vernetti, H Hawkes, A Cammarota, M Merell. Autosomal dominant cerebellar ataxias: a systematic review of clinical features. European journal of neurology. vol 21. issue 4. 2014-11-06. PMID:24765663. |
to assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (adcas), also referred to as spinocerebellar ataxias (scas) in genetic nomenclature. |
2014-11-06 |
2023-08-13 |
Not clear |
Carmen Rodríguez-Cueto, Cristina Benito, Javier Fernández-Ruiz, Julián Romero, Mariluz Hernández-Gálvez, María Gómez-Rui. Changes in CB(1) and CB(2) receptors in the post-mortem cerebellum of humans affected by spinocerebellar ataxias. British journal of pharmacology. vol 171. issue 6. 2014-11-05. PMID:23808969. |
changes in cb(1) and cb(2) receptors in the post-mortem cerebellum of humans affected by spinocerebellar ataxias. |
2014-11-05 |
2023-08-12 |
Not clear |