| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Cecilia Bonnet, Emmanuelle Apartis, Mathieu Anheim, Andre P Legrand, Jose F Baizabal-Carvallo, Anne M Bonnet, Alexandra Durr, Marie Vidailhe. Tremor-spectrum in spinocerebellar ataxia type 3. Journal of neurology. vol 259. issue 11. 2013-08-22. PMID:22592286. |
spinocerebellar ataxia type 3 (sca3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramidal symptoms. |
2013-08-22 |
2023-08-12 |
Not clear |
| Alice Chort, Sandro Alves, Martina Marinello, Béatrice Dufresnois, Jean-Gabriel Dornbierer, Christelle Tesson, Morwena Latouche, Darren P Baker, Martine Barkats, Khalid H El Hachimi, Merle Ruberg, Alexandre Janer, Giovanni Stevanin, Alexis Brice, Annie Sittle. Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice. Brain : a journal of neurology. vol 136. issue Pt 6. 2013-08-07. PMID:23518714. |
the performance of the sca7(266q/5q) knock-in mice was significantly improved on two behavioural tests sensitive to cerebellar function: the locotronic® test of locomotor function and the beam walking test of balance, motor coordination and fine movements, which are affected in patients with spinocerebellar ataxia 7. |
2013-08-07 |
2023-08-12 |
mouse |
| Domenico Italiano, Patrizia Tarantino, Elvira Valeria De Marco, Rocco Salvatore Calabrò, Placido Bramanti, Aldo Quattrone, Grazia Annes. Spinocerebellar ataxia type 7: report of a new Italian family. Internal medicine (Tokyo, Japan). vol 51. issue 20. 2013-08-05. PMID:23064575. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. |
2013-08-05 |
2023-08-12 |
Not clear |
| Uanda Cristina Almeida-Silva, Jaime Eduardo Cecílio Hallak, Wilson Marques Júnior, Flávia de Lima Osóri. Association between spinocerebellar ataxias caused by glutamine expansion and psychiatric and neuropsychological signals - a literature review. American journal of neurodegenerative disease. vol 2. issue 2. 2013-07-11. PMID:23844332. |
the autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (sca), are characterized by cerebellar degeneration and by their afferent and efferent connections. |
2013-07-11 |
2023-08-12 |
Not clear |
| J J Magaña, L Velázquez-Pérez, B Cisnero. Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives. Molecular neurobiology. vol 47. issue 1. 2013-06-04. PMID:22996397. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominant genetic disease characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia, severe tremor of postural or action type, peripheral neuropathy, cognitive disorders, and other multisystemic features. |
2013-06-04 |
2023-08-12 |
Not clear |
| Antonio Costantini, Maria Immacolata Pala, Marco Colangeli, Serena Savell. Thiamine and spinocerebellar ataxia type 2. BMJ case reports. vol 2013. 2013-06-03. PMID:23314445. |
spinocerebellar ataxia type 2 is a genetic disorder characterised by the degeneration of the cerebellum, its connections and degeneration in brainstem areas. |
2013-06-03 |
2023-08-12 |
Not clear |
| Katherine E Hekman, Guo-Yun Yu, Christopher D Brown, Haipeng Zhu, Xiaofei Du, Kristina Gervin, Dag Erik Undlien, April Peterson, Giovanni Stevanin, H Brent Clark, Stefan M Pulst, Thomas D Bird, Kevin P White, Christopher M Gome. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Human molecular genetics. vol 21. issue 26. 2013-05-15. PMID:23001565. |
the autosomal dominant spinocerebellar ataxias (scas) are a genetically heterogeneous group of disorders exhibiting cerebellar atrophy and purkinje cell degeneration whose subtypes arise from 31 distinct genetic loci. |
2013-05-15 |
2023-08-12 |
Not clear |
| Makoto Takahashi, Kinya Ishikawa, Nozomu Sato, Masato Obayashi, Yusuke Niimi, Taro Ishiguro, Mitsunori Yamada, Yasuko Toyoshima, Hitoshi Takahashi, Takeo Kato, Masaki Takao, Shigeo Murayama, Osamu Mori, Yoshinobu Eishi, Hidehiro Mizusaw. Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 32. issue 6. 2013-05-09. PMID:22393909. |
reduced brain-derived neurotrophic factor (bdnf) mrna expression and presence of bdnf-immunoreactive granules in the spinocerebellar ataxia type 6 (sca6) cerebellum. |
2013-05-09 |
2023-08-12 |
human |
| Jiing-Feng Lirng, Po-Shan Wang, Hung-Chieh Chen, Bing-Wen Soong, Wan Yuo Guo, Hsiu-Mei Wu, Cheng-Yen Chan. Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. PloS one. vol 7. issue 10. 2013-05-09. PMID:23118909. |
in this study, we investigated whether proton magnetic resonance spectroscopy (mrs) may help differentiate spinocerebellar ataxias (sca) from multiple systemic atrophy- cerebellar type (msa-c). |
2013-05-09 |
2023-08-12 |
Not clear |
| Antoni Matilla-Dueña. The ever expanding spinocerebellar ataxias. Editorial. Cerebellum (London, England). vol 11. issue 4. 2013-04-24. PMID:22447528. |
the spinocerebellar ataxias (scas) are a clinically, genetically, and neuropathologically heterogeneous group of neurological disorders defined by variable degrees of cerebellar ataxia often accompanied by additional cerebellar and non-cerebellar symptoms that, in many cases,defy differentiation based on clinical characterisation alone. |
2013-04-24 |
2023-08-12 |
Not clear |
| Kathrin Reetz, Ana S Costa, Shahram Mirzazade, Anna Lehmann, Agnes Juzek, Maria Rakowicz, Romana Boguslawska, Ludger Schöls, Christoph Linnemann, Caterina Mariotti, Marina Grisoli, Alexandra Dürr, Bart P van de Warrenburg, Dagmar Timmann, Massimo Pandolfo, Peter Bauer, Heike Jacobi, Till-Karsten Hauser, Thomas Klockgether, Jörg B Schul. Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain : a journal of neurology. vol 136. issue Pt 3. 2013-04-23. PMID:23423669. |
spinocerebellar ataxias are dominantly inherited disorders that are associated with progressive brain degeneration, mainly affecting the cerebellum and brainstem. |
2013-04-23 |
2023-08-12 |
human |
| Georgios Koutsis, Sally Pemble, Mary G Sweeney, Reema Paudel, Nicholas W Wood, Marios Panas, Athina Kladi, Henry Houlde. Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. Journal of the neurological sciences. vol 318. issue 1-2. 2013-03-28. PMID:22520093. |
the relative frequency of different autosomal dominant cerebellar ataxias, commonly referred to as spinocerebellar ataxias (scas), varies considerably among populations of different ethnic origin. |
2013-03-28 |
2023-08-12 |
Not clear |
| Bernd Friedrich, Philipp Euler, Ruhtraut Ziegler, Alexandre Kuhn, Bernhard G Landwehrmeyer, Ruth Luthi-Carter, Cornelius Weiller, Sabine Hellwig, Birgit Zucke. Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases. Brain research. vol 1481. 2013-03-05. PMID:22917585. |
there is growing evidence to suggest that critical nuclear events lead to transcriptional alterations in polyq diseases such as spinocerebellar ataxia type 7 (sca7) and huntington's disease (hd), conditions which share a cerebellar degenerative phenotype. |
2013-03-05 |
2023-08-12 |
mouse |
| Hélio A G Teive, Renato P Munhoz, Walter O Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C Werneck, Tetsuo Ashizaw. Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. Clinics (Sao Paulo, Brazil). vol 67. issue 5. 2013-02-25. PMID:22666787. |
spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. |
2013-02-25 |
2023-08-12 |
Not clear |
| Satsuki Noma, Wakana Ohya-Shimada, Masaaki Kanai, Keiji Ueda, Toshikazu Nakamura, Hiroshi Funakosh. Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. Neuroscience research. vol 73. issue 2. 2013-02-19. PMID:22426494. |
spinocerebellar ataxia type 7 (sca7) is an autosomal dominant disorder associated with cerebellar neurodegeneration caused by expansion of a cag repeat in the ataxin-7 gene. |
2013-02-19 |
2023-08-12 |
mouse |
| Koen L I van Gassen, Charlotte D C C van der Heijden, Susanne T de Bot, Wilfred F A den Dunnen, Leonard H van den Berg, Corien C Verschuuren-Bemelmans, H P H Kremer, Jan H Veldink, Erik-Jan Kamsteeg, Hans Scheffer, Bart P van de Warrenbur. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain : a journal of neurology. vol 135. issue Pt 10. 2013-01-15. PMID:22964162. |
an overlapping phenotypic presentation with its biological counterpart afg3l2, which when mutated causes spinocerebellar ataxia type 28, is apparent and possibly suggests that abnormal levels of the spg7 protein impact the function of the mitochondrial atpases associated with diverse cellular activities-protease complex (formed by spg7 and afg3l2) in the cerebellum. |
2013-01-15 |
2023-08-12 |
Not clear |
| Alexis Trott, Lucien J Houeno. Mini-review: spinocerebellar ataxias: an update of SCA genes. Recent patents on DNA & gene sequences. vol 6. issue 2. 2013-01-09. PMID:22670601. |
autosomal dominant spinocerebellar ataxias (scas) are a complex group of debilitating and neurodegenerative diseases that affect the cerebellum and its main connections and characterized by a generalized incoordination of gait, speech, and limb movements. |
2013-01-09 |
2023-08-12 |
Not clear |
| W Scherzed, E R Brunt, H Heinsen, R A de Vos, K Seidel, K Bürk, L Schöls, G Auburger, D Del Turco, T Deller, H W Korf, W F den Dunnen, U Rü. Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). Cerebellum (London, England). vol 11. issue 3. 2012-12-11. PMID:22198871. |
pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (sca2) and type 3 (sca3). |
2012-12-11 |
2023-08-12 |
Not clear |
| W Scherzed, E R Brunt, H Heinsen, R A de Vos, K Seidel, K Bürk, L Schöls, G Auburger, D Del Turco, T Deller, H W Korf, W F den Dunnen, U Rü. Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). Cerebellum (London, England). vol 11. issue 3. 2012-12-11. PMID:22198871. |
the cerebellum is one of the well-known targets of the pathological processes underlying spinocerebellar ataxia type 2 (sca2) and type 3 (sca3). |
2012-12-11 |
2023-08-12 |
Not clear |
| Kathrin Reetz, Imis Dogan, Arndt Rolfs, Ferdinand Binkofski, Jörg B Schulz, Angela R Laird, Peter T Fox, Simon B Eickhof. Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). NeuroImage. vol 62. issue 3. 2012-12-10. PMID:22659444. |
investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (sca17). |
2012-12-10 |
2023-08-12 |
human |