| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Adebimpe Kasumu, Ilya Bezprozvann. Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. Cerebellum (London, England). vol 11. issue 3. 2012-12-11. PMID:20480274. |
emerging research suggests that a fundamental cellular signaling pathway is disrupted by a majority of these mutated genes, which could explain the characteristic death of purkinje cells, cerebellar atrophy, and ataxia that occur in many scas. |
2012-12-11 |
2023-08-12 |
Not clear |
| Parminder J S Vig, Jinrong Wei, Qingmei Shao, Maripar E Lopez, Rebecca Halperin, Jill Gerbe. Suppression of calbindin-D28k expression exacerbates SCA1 phenotype in a disease mouse model. Cerebellum (London, England). vol 11. issue 3. 2012-12-11. PMID:22076800. |
our study provides further evidence for a critical role of cab in sca1 pathogenesis, which may help identify new therapeutic targets to treat sca1 or other cerebellar ataxias. |
2012-12-11 |
2023-08-12 |
mouse |
| Christos Ganos, Christian Bernreuther, Jakob Matschke, Christian Gerloff, Alexander Münchau, Frank Leypold. Ataxia and HIV: clinicopathologic correlations in a case of HIV-associated cerebellar leukoencephalopathy. Cerebellum (London, England). vol 11. issue 3. 2012-12-11. PMID:22205440. |
ataxia and hiv: clinicopathologic correlations in a case of hiv-associated cerebellar leukoencephalopathy. |
2012-12-11 |
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. |
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 |
| 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. |
in sca1, ataxia symptoms were correlated with brainstem atrophy and in sca3 with both brainstem and cerebellar atrophy. |
2012-12-04 |
2023-08-12 |
Not clear |
| Mariano Serrao, Francesco Pierelli, Alberto Ranavolo, Francesco Draicchio, Carmela Conte, Romildo Don, Roberto Di Fabio, Margherita LeRose, Luca Padua, Giorgio Sandrini, Carlo Casal. Gait pattern in inherited cerebellar ataxias. Cerebellum (London, England). vol 11. issue 1. 2012-12-04. PMID:21717229. |
gait pattern in inherited cerebellar ataxias. |
2012-12-04 |
2023-08-12 |
human |
| Shimon Ishida, Yoshimitsu Doi, Kazushi Yamane, Masakazu Sugino, Fumiharu Kimura, Toshiaki Hanafusa, Hideo Fukui, Hiroshi Tama. Resolution of cranial MRI and SPECT abnormalities in a patient with Wilson's disease following oral zinc monotherapy. Internal medicine (Tokyo, Japan). vol 51. issue 13. 2012-11-22. PMID:22790141. |
she showed an akinetic-rigid syndrome and cerebellar motor ataxia. |
2012-11-22 |
2023-08-12 |
Not clear |
| Lucía Calatrava-Ferreras, Rafael Gonzalo-Gobernado, Antonio S Herranz, Diana Reimers, Teresa Montero Vega, Adriano Jiménez-Escrig, Luis Alberto Richart López, Eulalia Bazá. Effects of intravenous administration of human umbilical cord blood stem cells in 3-acetylpyridine-lesioned rats. Stem cells international. vol 2012. 2012-11-19. PMID:23150735. |
cerebellar ataxias include a heterogeneous group of infrequent diseases characterized by lack of motor coordination caused by disturbances in the cerebellum and its associated circuits. |
2012-11-19 |
2023-08-12 |
human |
| M Hadjivassiliou, L I Wallis, N Hoggard, R A Grünewald, P D Griffiths, I D Wilkinso. MR spectroscopy and atrophy in Gluten, Friedreich's and SCA6 ataxias. Acta neurologica Scandinavica. vol 126. issue 2. 2012-11-12. PMID:22070551. |
previous work using proton mr spectroscopy ((1)h-mrs) of the cerebellum in the ataxias suggested that (1)h-mrs abnormalities and atrophy do not necessarily occur concurrently. |
2012-11-12 |
2023-08-12 |
Not clear |
| Andrea Di Cristofori, Laura Fusi, Antonella Gomitoni, Giampiero Grampa, Anna Bersan. R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update. The journal of headache and pain. vol 13. issue 5. 2012-11-07. PMID:22527033. |
although p.arg583gln mutations are associated with a heterogeneous phenotype, carriers present cerebellar signs which consisted generally in ataxia and dysmetria, with intention tremor appearing mostly in advanced age, often progressive and permanent. |
2012-11-07 |
2023-08-12 |
Not clear |
| Kay Seidel, Sonny Siswanto, Ewout R P Brunt, Wilfred den Dunnen, Horst-Werner Korf, Udo Rü. Brain pathology of spinocerebellar ataxias. Acta neuropathologica. vol 124. issue 1. 2012-10-30. PMID:22684686. |
the autosomal dominant cerebellar ataxias (adcas) represent a heterogeneous group of neurodegenerative diseases with progressive ataxia and cerebellar degeneration. |
2012-10-30 |
2023-08-12 |
Not clear |
| Mark I Boulos, Ashkan Shoamanesh, Richard I Aviv, David J Gladstone, Richard H Swart. Severe hypomagnesemia associated with reversible subacute ataxia and cerebellar hyperintensities on MRI. The neurologist. vol 18. issue 4. 2012-10-29. PMID:22735253. |
severe hypomagnesemia associated with reversible subacute ataxia and cerebellar hyperintensities on mri. |
2012-10-29 |
2023-08-12 |
Not clear |
| R Sivera, N Martín, I Boscá, T Sevilla, N Muelas, I Azorín, J J Vílchez, M Bolonio, E Donat, C Ribes-Koninckx, L Batalle. Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia. Journal of neurology. vol 259. issue 5. 2012-10-17. PMID:21984193. |
cerebellar adult onset ataxia is a heterogeneous condition. |
2012-10-17 |
2023-08-12 |
Not clear |
| Teodora Chamova, Laura Florez, Velina Guergueltcheva, Margarita Raycheva, Radka Kaneva, Hanns Lochmüller, Luba Kalaydjieva, Ivailo Tourne. ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. Journal of neurology. vol 259. issue 5. 2012-10-17. PMID:22008874. |
in am j hum genet 87:813-819, 2010) implicated for the first time the ano10 gene in the genetic basis of autosomal recessive cerebellar ataxias. |
2012-10-17 |
2023-08-12 |
Not clear |
| José A Angemi, Juan C Zuccott. [Joubert syndrome: report of four adult siblings affected]. Revista de neurologia. vol 54. issue 10. 2012-10-10. PMID:22573508. |
they reported four cases with partial or total agenesis of the cerebellar vermis, apnea-hyperpnea neonatal episodic, abnormal eye movements, ataxia and mental retardation. |
2012-10-10 |
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 |
| A Awada, S Al Rajeh, O Bademosi, H Ismai. Pattern of degenerative ataxias in the eastern province of Saudi Arabia. Annals of Saudi medicine. vol 13. issue 2. 2012-10-02. PMID:17588019. |
there were six late onset ataxias: "pure cerebellar" ataxias were the most common. |
2012-10-02 |
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 |
| Mohammed M Ja. Evaluating the child with unsteady gait. Neurosciences (Riyadh, Saudi Arabia). vol 14. issue 1. 2012-10-02. PMID:21048565. |
ataxia can be cerebellar or sensory. |
2012-10-02 |
2023-08-12 |
Not clear |