| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
spinocerebellar ataxias (scas) are a family of chronic progressive neurodegenerative diseases, clinically and genetically heterogeneous, characterized by loss of balance and motor coordination due to degeneration of the cerebellum and its afferent and efferent connections. |
2014-11-05 |
2023-08-12 |
Not clear |
| Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia, Nico Mitro, Eriola Hoxha, Isabella Mura, Domenico A Coviello, Young-Ah Moon, Christelle Tesson, Giovanna Vaula, Philippe Couarch, Laura Orsi, Eleonora Duregon, Mauro Giulio Papotti, Jean-François Deleuze, Jean Imbert, Chiara Costanzi, Alessandro Padovani, Paola Giunti, Marcel Maillet-Vioud, Alexandra Durr, Alexis Brice, Filippo Tempia, Ada Funaro, Loredana Boccone, Donatella Caruso, Giovanni Stevanin, Alfredo Brusc. ELOVL5 mutations cause spinocerebellar ataxia 38. American journal of human genetics. vol 95. issue 2. 2014-10-15. PMID:25065913. |
spinocerebellar ataxias (scas) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. |
2014-10-15 |
2023-08-13 |
mouse |
| L Ulatowski, R Parker, G Warrier, R Sultana, D A Butterfield, D Mano. Vitamin E is essential for Purkinje neuron integrity. Neuroscience. vol 260. 2014-09-25. PMID:24342566. |
α-tocopherol deficiency manifests primarily in neurological pathologies, notably cerebellar dysfunctions such as spinocerebellar ataxia. |
2014-09-25 |
2023-08-12 |
mouse |
| Sarah Doss, Alexander U Brandt, Timm Oberwahrenbrock, Matthias Endres, Friedemann Paul, Jan Leo Rinnentha. Metabolic evidence for cerebral neurodegeneration in spinocerebellar ataxia type 1. Cerebellum (London, England). vol 13. issue 2. 2014-09-12. PMID:24085647. |
autosomal-dominant spinocerebellar ataxia type 1 (sca1) is an adult-onset progressive disorder with well-characterized neurodegeneration in the cerebellum and brainstem. |
2014-09-12 |
2023-08-12 |
Not clear |
| Conceição Bettencourt, Mina Ryten, Paola Forabosco, Stephanie Schorge, Joshua Hersheson, John Hardy, Henry Houlde. Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. JAMA neurology. vol 71. issue 7. 2014-09-08. PMID:24862029. |
the core clinical and neuropathological feature of the autosomal dominant spinocerebellar ataxias (scas) is cerebellar degeneration. |
2014-09-08 |
2023-08-13 |
Not clear |
| Ellika Schalling, Lena Harteliu. Speech in spinocerebellar ataxia. Brain and language. vol 127. issue 3. 2014-07-28. PMID:24182841. |
spinocerebellar ataxias (scas) are a heterogeneous group of autosomal dominant cerebellar ataxias clinically characterized by progressive ataxia, dysarthria and a range of other concomitant neurological symptoms. |
2014-07-28 |
2023-08-12 |
Not clear |
| Ginevra Zanni, Chiara Scotton, Chiara Passarelli, Mingyan Fang, Sabina Barresi, Bruno Dallapiccola, Bin Wu, Francesca Gualandi, Alessandra Ferlini, E Bertini, Wang We. Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics. vol 14. issue 3-4. 2014-06-23. PMID:23975261. |
this study confirms the involvement of rna processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features. |
2014-06-23 |
2023-08-12 |
Not clear |
| Vikram G Shakkottai, Brent L Foge. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurologic clinics. vol 31. issue 4. 2014-06-18. PMID:24176420. |
the autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. |
2014-06-18 |
2023-08-12 |
Not clear |
| Uzay E Emir, Howard Brent Clark, Manda L Vollmers, Lynn E Eberly, Gülin Ö. Non-invasive detection of neurochemical changes prior to overt pathology in a mouse model of spinocerebellar ataxia type 1. Journal of neurochemistry. vol 127. issue 5. 2014-05-12. PMID:24032423. |
spinocerebellar ataxia type 1 (sca1) is a hereditary, progressive and fatal movement disorder that primarily affects the cerebellum. |
2014-05-12 |
2023-08-12 |
mouse |
| Uzay E Emir, Howard Brent Clark, Manda L Vollmers, Lynn E Eberly, Gülin Ö. Non-invasive detection of neurochemical changes prior to overt pathology in a mouse model of spinocerebellar ataxia type 1. Journal of neurochemistry. vol 127. issue 5. 2014-05-12. PMID:24032423. |
we measured cerebellar neurochemical alterations in a knock-in mouse model of spinocerebellar ataxia type 1, a hereditary movement disorder, using ultra-high field magnetic resonance spectroscopy (mrs). |
2014-05-12 |
2023-08-12 |
mouse |
| Iselin Marie Wedding, Jeanette Koht, Espen Dietrichs, Nils Inge Landrø, Chantal M E Tallakse. Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm. BMC neurology. vol 13. 2014-04-04. PMID:24289098. |
spinocerebellar ataxia type 14 (sca14) is an autosomal dominant hereditary ataxia characterized by a relatively pure cerebellar phenotype. |
2014-04-04 |
2023-08-12 |
human |