| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Ji Sun Kim, Ji Soo Kim, Jinyoung Youn, Dae-Won Seo, Yuri Jeong, Ji-Hoon Kang, Jeong Ho Park, Jin Whan Ch. Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features. Movement disorders : official journal of the Movement Disorder Society. vol 28. issue 9. 2014-04-02. PMID:23609488. |
because of frequent involvement of the cerebellum and brainstem, ocular motor abnormalities are key features of spinocerebellar ataxias and may aid in differential diagnosis. |
2014-04-02 |
2023-08-12 |
Not clear |
| Rong-Ni Chang, Guang-Zhi Yuan, Jian-Qiang Tan, Qing-Niao Lai, Jun Ma, Yi-Jin Yang, Wei Shu, Wei Hou, Zhi-Gang Yua. [Analysis of SCA3/MJD3 gene mutation and genetic polymorphism in a guangxi family with spinocerebellar ataxia 3]. Yi chuan = Hereditas. vol 35. issue 11. 2014-04-01. PMID:24579313. |
autosomal dominant cerebellar ataxias (adcas) comprise a group of genetically heterogeneous neurodegenerative disorders among which spinocerebellar ataxia type 3 (sca3) represents the most common form of scas worldwide. |
2014-04-01 |
2023-08-12 |
Not clear |
| Sergio Alejandro Rodríguez-Quiroga, Dolores Gonzalez-Morón, Nelida Garretto, Marcelo Andres Kauffma. Huntington's disease masquerading as spinocerebellar ataxia. BMJ case reports. vol 2013. 2014-03-10. PMID:23853009. |
noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of hd patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (sca), were occasionally reported. |
2014-03-10 |
2023-08-12 |
Not clear |
| Laura Segabinazzi Pacheco, Aron Ferreira da Silveira, Alexis Trott, Lucien J Houenou, Thaís Doeler Algarve, Caroline Belló, Adriano Flesch Lenz, Maria Fernanda Mânica-Cattani, Ivana Beatrice Mânica da Cru. Association between Machado-Joseph disease and oxidative stress biomarkers. Mutation research. Genetic toxicology and environmental mutagenesis. vol 757. issue 2. 2014-01-17. PMID:23994570. |
spinocerebellar ataxia type 3, also called machado-joseph disease (mjd), is an hereditary autosomal dominant neurodegenerative disease that affects the cerebellum and its afferent and efferent connections. |
2014-01-17 |
2023-08-12 |
human |
| H Yamaura, H Hirai, D Yanagihar. Postural dysfunction in a transgenic mouse model of spinocerebellar ataxia type 3. Neuroscience. vol 243. 2013-12-17. PMID:23567815. |
to examine the role of the cerebellum in apas, we investigated a conditional transgenic mouse of spinocerebellar ataxia type 3 (sca3tg) that has defective cerebellar purkinje cells. |
2013-12-17 |
2023-08-12 |
mouse |
| Lisa M Bunn, Jonathan F Marsden, Paola Giunti, Brian L Da. Stance instability in spinocerebellar ataxia type 6. Movement disorders : official journal of the Movement Disorder Society. vol 28. issue 4. 2013-11-27. PMID:23143967. |
spinocerebellar ataxia type 6 (sca6) provides an opportunity to understand balance dysfunction associated with a relatively homogenous cerebellar lesion. |
2013-11-27 |
2023-08-12 |
human |
| Huu Phuc Nguyen, Jeannette Hübener, Jonasz Jeremiasz Weber, Stephan Grueninger, Olaf Riess, Andreas Weis. Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. PloS one. vol 8. issue 4. 2013-11-26. PMID:23626768. |
cerebellar soluble mutant ataxin-3 level decreases during disease progression in spinocerebellar ataxia type 3 mice. |
2013-11-26 |
2023-08-12 |
mouse |
| Huu Phuc Nguyen, Jeannette Hübener, Jonasz Jeremiasz Weber, Stephan Grueninger, Olaf Riess, Andreas Weis. Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. PloS one. vol 8. issue 4. 2013-11-26. PMID:23626768. |
of interest, we observed a tendency for decrease of soluble mutant ataxin-3 only in the cerebellum of transgenic sca3 mice, one of the most affected brain regions in spinocerebellar ataxia type 3 but not in whole brain tissue, indicative of a brain region selective change in mutant ataxin-3 protein homeostasis. |
2013-11-26 |
2023-08-12 |
mouse |
| Udo Rüb, Ludger Schöls, Henry Paulson, Georg Auburger, Pawel Kermer, Joanna C Jen, Kay Seidel, Horst-Werner Korf, Thomas Delle. Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Progress in neurobiology. vol 104. 2013-11-05. PMID:23438480. |
the spinocerebellar ataxias type 1 (sca1), 2 (sca2), 3 (sca3), 6 (sca6) and 7 (sca7) are genetically defined autosomal dominantly inherited progressive cerebellar ataxias (adcas). |
2013-11-05 |
2023-08-12 |
Not clear |