| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |