| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Heike Jacobi, Till-Karsten Hauser, Paola Giunti, Christoph Globas, Peter Bauer, Tanja Schmitz-Hübsch, László Baliko, Alessandro Filla, Caterina Mariotti, Maria Rakowicz, Perine Charles, Pascale Ribai, Sandra Szymanski, Jon Infante, Bart P C van de Warrenburg, Alexandra Dürr, Dagmar Timmann, Sylvia Boesch, Roberto Fancellu, Rafal Rola, Chantal Depondt, Ludger Schöls, Elzbieta Zdzienicka, Jun-Suk Kang, Susanne Ratzka, Berry Kremer, Dennis A Stephenson, Béla Melegh, Massimo Pandolfo, Sophie Tezenas du Montcel, Johannes Borkert, Jörg B Schulz, Thomas Klockgethe. Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum (London, England). vol 11. issue 1. 2012-12-04. PMID:21701895. |
spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. |
2012-12-04 |
2023-08-12 |
Not clear |
| Heike Jacobi, Till-Karsten Hauser, Paola Giunti, Christoph Globas, Peter Bauer, Tanja Schmitz-Hübsch, László Baliko, Alessandro Filla, Caterina Mariotti, Maria Rakowicz, Perine Charles, Pascale Ribai, Sandra Szymanski, Jon Infante, Bart P C van de Warrenburg, Alexandra Dürr, Dagmar Timmann, Sylvia Boesch, Roberto Fancellu, Rafal Rola, Chantal Depondt, Ludger Schöls, Elzbieta Zdzienicka, Jun-Suk Kang, Susanne Ratzka, Berry Kremer, Dennis A Stephenson, Béla Melegh, Massimo Pandolfo, Sophie Tezenas du Montcel, Johannes Borkert, Jörg B Schulz, Thomas Klockgethe. Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum (London, England). vol 11. issue 1. 2012-12-04. PMID:21701895. |
to assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (scas), we analysed the baseline data of the eurosca natural history study, a multicentric cohort study of 526 patients with either spinocerebellar ataxia type 1, 2, 3 or 6. |
2012-12-04 |
2023-08-12 |
Not clear |
| Brian C Jung, Soo I Choi, Annie X Du, Jennifer L Cuzzocreo, Howard S Ying, Bennett A Landman, Susan L Perlman, Robert W Baloh, David S Zee, Arthur W Toga, Jerry L Prince, Sarah H Yin. MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2. Cerebellum (London, England). vol 11. issue 1. 2012-12-04. PMID:21850525. |
in this study, we used manual delineation of high-resolution magnetic resonance imaging (mri) to determine the spatial and temporal characteristics of the cerebellar atrophy in spinocerebellar ataxia type 2 (sca2). |
2012-12-04 |
2023-08-12 |
human |
| Mariana Moscovich, Renato Puppi Munhoz, Helio A Teive, Salmo Raskin, Margarete de J Carvalho, Egberto R Barbosa, Ronald Ranvaud, Jilin Liu, Karen McFarland, Tetsuo Ashizawa, Andrew J Lees, Laura Silveira-Moriyam. Olfactory impairment in familial ataxias. Journal of neurology, neurosurgery, and psychiatry. vol 83. issue 10. 2012-11-27. PMID:22791905. |
the main clinical manifestations of the spinocerebellar ataxias (scas) result from the involvement of the cerebellum and its connections. |
2012-11-27 |
2023-08-12 |
Not clear |
| Zhao Chen, Xiaohui Li, Beisha Tang, Junling Wang, Yuting Shi, Zhanfang Sun, Li Zhang, Qian Pan, Kun Xia, Hong Jian. Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population. Neuroscience letters. vol 520. issue 1. 2012-10-04. PMID:22579694. |
autosomal dominant cerebellar ataxias (adcas), genetically classified into spinocerebellar ataxias (scas), are a highly heterogeneous group of neurodegenerative disorders. |
2012-10-04 |
2023-08-12 |
Not clear |
| S Furtado, S Das, O Suchowersk. A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects. Parkinsonism & related disorders. vol 4. issue 4. 2012-10-02. PMID:18591106. |
autosomal dominant cerebellar ataxias (adcas) include spinocerebellar ataxias (scas) and dentatorubral-pallidoluysian atrophy (drpla); six of these have been found to be trinucleotide repeat disorders. |
2012-10-02 |
2023-08-12 |
Not clear |
| Ashok K Kayal, Munindra Goswami, Marami Das, Hussain Masara. A case of Spinocerebellar Ataxia from ethnic tribe of Assam. Annals of Indian Academy of Neurology. vol 14. issue 2. 2012-10-02. PMID:21808476. |
here we present the case of a 17-year-old girl belonging to an ethnic tribe (bodo tribe) of assam, presenting with bilateral cerebellar signs and with history suggestive of an autosomal dominant pattern of inheritance, who was found to have spinocerebellar ataxia 7 on genetic testing. |
2012-10-02 |
2023-08-12 |
Not clear |
| Hirokazu Hira. Basic research on cerebellar gene therapy using lentiviral vectors. Cerebellum (London, England). vol 11. issue 2. 2012-09-19. PMID:22120847. |
using our method, various experiments were carried out to study the pathophysiology of the cerebellum, including the investigation of a cerebellum-specific gene of unknown function, the generation and analysis of a mouse model of the spinocerebellar ataxia, and the rescue of an ataxic phenotype in mutant mice by introducing a defective gene or a therapeutic gene into the purkinje cells. |
2012-09-19 |
2023-08-12 |
mouse |
| Lifang Lei, Yunjie Liao, Weihua Liao, Jie Zhou, Yi Yuan, Junling Wang, Hong Jiang, Lu Shen, Beisha Tan. Magnetic resonance spectroscopy of the cerebellum in patients with spinocerebellar ataxia type 3/Machado-Joseph disease. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. vol 36. issue 6. 2012-09-06. PMID:21743142. |
magnetic resonance spectroscopy of the cerebellum in patients with spinocerebellar ataxia type 3/machado-joseph disease. |
2012-09-06 |
2023-08-12 |
Not clear |
| Lifang Lei, Yunjie Liao, Weihua Liao, Jie Zhou, Yi Yuan, Junling Wang, Hong Jiang, Lu Shen, Beisha Tan. Magnetic resonance spectroscopy of the cerebellum in patients with spinocerebellar ataxia type 3/Machado-Joseph disease. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. vol 36. issue 6. 2012-09-06. PMID:21743142. |
to evaluate the metabolite pattern and the severity in patients with spinocerebellar ataxia type 3/ machado-joseph disease (sca3/mjd) by (1)h magnetic resonance spectroscopy ((1)h-mrs) on different cerebellar regions, including cerebellar vermis, cerebellar peduncles, cerebellar cortex, and dentatum. |
2012-09-06 |
2023-08-12 |
Not clear |
| Mariela Guevara-García, Lizette Gil-del Valle, Luis Velásquez-Pérez, Julio César García-Rodrígue. Oxidative stress as a cofactor in spinocerebellar ataxia type 2. Redox report : communications in free radical research. vol 17. issue 2. 2012-09-06. PMID:22564351. |
spinocerebellar ataxia type 2 (sca2) is a redox-sensitive neurodegenerative disease affecting the cerebellum, fibre connections in the cerebellum, the peripheral nervous system, and extracerebellar central pathways. |
2012-09-06 |
2023-08-12 |
Not clear |
| A Castrioto, P Prontera, E Di Gregorio, V Rossi, L Parnetti, A Rossi, E Donti, A Brusco, P Calabresi, N Tambasc. A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. European journal of neurology. vol 18. issue 10. 2012-06-19. PMID:21382133. |
sca15 is a recently identified spinocerebellar ataxia with pure cerebellar involvement. |
2012-06-19 |
2023-08-12 |
Not clear |
| M Traoré, T Coulibaly, K G Meilleur, A La Pean, M Sangaré, G Landouré, F Mochel, M Karambé, C O Guinto, K H Fischbec. Clinical and genetic analysis of spinocerebellar ataxia in Mali. European journal of neurology. vol 18. issue 10. 2012-06-19. PMID:21418439. |
autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (scas), represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. |
2012-06-19 |
2023-08-12 |
Not clear |
| Keiko Shimojima, Akihisa Okumura, Jun Natsume, Kaori Aiba, Hirokazu Kurahashi, Tetsuo Kubota, Kenji Yokochi, Toshiyuki Yamamot. Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia. Brain & development. vol 34. issue 3. 2012-06-04. PMID:21600715. |
many types of spinocerebellar ataxias (scas) manifest as progressive disorders with cerebellar involvement. |
2012-06-04 |
2023-08-12 |
Not clear |
| Freya E Cooper, Manon Grube, Katharina Von Kriegstein, Sukhbinder Kumar, Philip English, Thomas P Kelly, Patrick F Chinnery, Timothy D Griffith. Distinct critical cerebellar subregions for components of verbal working memory. Neuropsychologia. vol 50. issue 1. 2012-05-24. PMID:22133495. |
in this study we examined the correlation between cognitive performance and cerebellar integrity in a specific degeneration of the cerebellar cortex: spinocerebellar ataxia type 6 (sca6). |
2012-05-24 |
2023-08-12 |
Not clear |
| Antoni Matilla-Dueñas, Marc Corral-Juan, Victor Volpini, Ivelisse Sanche. The spinocerebellar ataxias: clinical aspects and molecular genetics. Advances in experimental medicine and biology. vol 724. 2012-04-10. PMID:22411256. |
spinocerebellar ataxias (scas) are a highly heterogeneous group of inherited neurological disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia often accompanied by additional cerebellar and noncerebellar symptoms which in most cases defy differentiation. |
2012-04-10 |
2023-08-12 |
Not clear |
| Caroline Kizilyaprak, Danièle Spehner, Didier Devys, Patrick Schult. The linker histone H1C contributes to the SCA7 nuclear phenotype. Nucleus (Austin, Tex.). vol 2. issue 5. 2012-03-06. PMID:21970987. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disease caused by a polyglutamine expansion in ataxin-7, a subunit of the saga coactivator, which leads to progressive neuronal dysfunction and cell death in cerebellum, brainstem and retina. |
2012-03-06 |
2023-08-12 |
mouse |
| Hélio A G Teive, Renato P Munhoz, Tetsuo Ashizaw. Spinocerebellar ataxia type 10: disproportionate cerebellar symptoms among at-risk subjects induced by small amounts of alcohol. Arquivos de neuro-psiquiatria. vol 69. issue 5. 2012-02-10. PMID:22042193. |
spinocerebellar ataxia type 10: disproportionate cerebellar symptoms among at-risk subjects induced by small amounts of alcohol. |
2012-02-10 |
2023-08-12 |
human |
| Federico D'Agata, Paola Caroppo, Bruno Baudino, Marcella Caglio, Michela Croce, Mauro Bergui, Marco Tamietto, Paolo Mortara, Laura Ors. The recognition of facial emotions in spinocerebellar ataxia patients. Cerebellum (London, England). vol 10. issue 3. 2012-01-13. PMID:21503592. |
this pattern has been confirmed in many genotypes of spinocerebellar ataxias (sca), a group of genetically defined pathologies characterized by the degeneration of the cerebellum and its connections. |
2012-01-13 |
2023-08-12 |
Not clear |
| Stephanie A Furrer, Mathini S Mohanachandran, Sarah M Waldherr, Christopher Chang, Vincent A Damian, Bryce L Sopher, Gwenn A Garden, Albert R La Spad. Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 31. issue 45. 2012-01-04. PMID:22072678. |
spinocerebellar ataxia type 7 (sca7) is a dominantly inherited disorder characterized by cerebellum and brainstem neurodegeneration. |
2012-01-04 |
2023-08-12 |
mouse |