| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Anna-Lena Ström, Lars Forsgren, Monica Holmber. A role for both wild-type and expanded ataxin-7 in transcriptional regulation. Neurobiology of disease. vol 20. issue 3. 2006-03-09. PMID:15936949. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disease primarily affecting the brainstem, retina and purkinje cells of the cerebellum. |
2006-03-09 |
2023-08-12 |
Not clear |
| Anna-Lena Ström, Lars Forsgren, Monica Holmber. Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice. Biochimica et biophysica acta. vol 1731. issue 3. 2006-02-03. PMID:16297465. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disease primarily affecting the cerebellum, brainstem and retina. |
2006-02-03 |
2023-08-12 |
mouse |
| Stacey J McMahon, Marilyn G Pray-Grant, David Schieltz, John R Yates, Patrick A Gran. Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity. Proceedings of the National Academy of Sciences of the United States of America. vol 102. issue 24. 2005-08-16. PMID:15932941. |
here, we identify the protein sgf73/sca7 as a component of saga and slik, and a homologue of the human sca7-encoded protein ataxin-7, which, in its polyglutamine expanded pathological form, is responsible for the neurodegenerative disease spinocerebellar ataxia 7 (sca7). |
2005-08-16 |
2023-08-12 |
human |
| Th Postert, J Eyding, D Berg, H Przuntek, G Becker, M Finger, L Schöl. Transcranial sonography in spinocerebellar ataxia type 3. Journal of neural transmission. Supplementum. issue 68. 2004-10-05. PMID:15354398. |
aim of the present study was to evaluate the diagnostic potential of tcs in spinocerebellar ataxia type 3 (sca3), a neurodegenerative disease affecting the cerebellum, multiple pontine nuclei, substantia nigra, pallidum, putamen, caudate nucleus and long spinal tracts. |
2004-10-05 |
2023-08-12 |
Not clear |
| O Rolón Lacarriere, A Rasmussen Almaraz, H Hernández Cruz, J Carranza del Río, M González Cruz, J Gutiérrez Moctezum. [Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family]. Revista de neurologia. vol 38. issue 8. 2004-07-23. PMID:15122543. |
spinocerebellar ataxias (sca) constitute a group of neurodegenerative diseases characterized by cerebellar disfunction alone or associated with other neurological anomalies. |
2004-07-23 |
2023-08-12 |
Not clear |
| Hélio A Ghizoni Teive, Walter Oleschko Arrud. [The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease]. Arquivos de neuro-psiquiatria. vol 62. issue 1. 2004-07-15. PMID:15122458. |
autosomal dominant spinocerebellar ataxia (sca) is an heterogeneous group of neurodegenerative diseases involving cerebellum and its connections. |
2004-07-15 |
2023-08-12 |
Not clear |
| Alfredo Brusco, Cinzia Gellera, Claudia Cagnoli, Alessandro Saluto, Alessia Castucci, Chiara Michielotto, Vincenza Fetoni, Caterina Mariotti, Nicola Migone, Stefano Di Donato, Franco Taron. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Archives of neurology. vol 61. issue 5. 2004-06-17. PMID:15148151. |
autosomal dominant cerebellar ataxias are a clinical and genetically heterogeneous group of progressive neurodegenerative diseases, at present associated with 22 loci (spinocerebellar ataxia [sca] 1-sca8, sca10-sca19, sca21, sca22, fibroblast growth factor 14 [fgf14]-sca, and dentatorubral-pallidoluysian atrophy [drpla]). |
2004-06-17 |
2023-08-12 |
Not clear |
| Takafumi Inou. Dynamics of calcium and its roles in the dendrite of the cerebellar Purkinje cell. The Keio journal of medicine. vol 52. issue 4. 2004-02-26. PMID:14748477. |
purkinje cells in a model mouse line of human neurodegenerative disease, spinocerebellar ataxia type 1, showed abnormal ca2+ release properties, which indicated tight regulation of ca2+ dynamics in the wild type purkinje cell. |
2004-02-26 |
2023-08-12 |
mouse |
| J H Anderson, M C Yavuz, B M Kazar, P Christova, C M Gome. The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. Archives italiennes de biologie. vol 140. issue 4. 2003-01-22. PMID:12228985. |
the autosomal dominant spinocerebellar ataxias (scas) are a group of neurodegenerative diseases characterized by progressive instability of posture and gait, incoordination, ocular motor dysfunction, and dysarthria due to degeneration of cerebellar and brainstem neurons. |
2003-01-22 |
2023-08-12 |
Not clear |
| Joanna T Pang, Paola Giunti, Susan Chamberlain, Shu F An, Roberta Vitaliani, Tomaso Scaravilli, Lillian Martinian, Nicholas W Wood, Francesco Scaravilli, Olaf Ansorg. Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain : a journal of neurology. vol 125. issue Pt 3. 2002-05-03. PMID:11872620. |
spinocerebellar ataxia 2 (sca2) belongs to the family of autosomal dominant cerebellar ataxias (adca), a genetically heterogeneous group of neurodegenerative diseases. |
2002-05-03 |
2023-08-12 |
Not clear |
| T Kato, F Tanaka, M Yamamoto, E Yosida, T Indo, H Watanabe, T Yoshiwara, M Doyu, G Sobu. Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes. Clinical genetics. vol 58. issue 1. 2001-03-01. PMID:10945665. |
spinocerebellar ataxia type 6 (sca6) is a neurodegenerative disease caused by a cag repeat expansion in the cacna1a gene. |
2001-03-01 |
2023-08-12 |
Not clear |
| G Yvert, K S Lindenberg, S Picaud, G B Landwehrmeyer, J A Sahel, J L Mande. Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Human molecular genetics. vol 9. issue 17. 2000-12-22. PMID:11030754. |
among the eight progressive neurodegenerative diseases caused by polyglutamine expansions, spinocerebellar ataxia type 7 (sca7) is the only one to display degeneration in both brain and retina. |
2000-12-22 |
2023-08-12 |
mouse |
| G Stevanin, G David, A Dürr, P Giunti, A Benomar, M Abada-Bendib, M S Lee, Y Agid, A Bric. Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG). European journal of human genetics : EJHG. vol 7. issue 8. 2000-02-14. PMID:10602364. |
spinocerebellar ataxia 7 (sca7) is a neurodegenerative disease characterised by the association of cerebellar ataxia and, in most patients, progressive macular degeneration leading to loss of autonomy and blindness. |
2000-02-14 |
2023-08-12 |
Not clear |
| K Ishikawa, H Fujigasaki, H Saegusa, K Ohwada, T Fujita, H Iwamoto, Y Komatsuzaki, S Toru, H Toriyama, M Watanabe, N Ohkoshi, S Shoji, I Kanazawa, T Tanabe, H Mizusaw. Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Human molecular genetics. vol 8. issue 7. 1999-08-16. PMID:10369863. |
spinocerebellar ataxia type 6 (sca6) is one of the eight neurodegenerative diseases caused by a tri-nucleotide (cag) repeat expansion coding polyglutamine (cag repeat/polyglutamine diseases) and is characterized by late onset autosomal dominant cerebellar ataxia and predominant loss of cerebellar purkinje cells. |
1999-08-16 |
2023-08-12 |
human |
| M Y Chung, L P Ranum, L A Duvick, A Servadio, H Y Zoghbi, H T Or. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature genetics. vol 5. issue 3. 1994-02-04. PMID:8275090. |
evidence for a mechanism predisposing to intergenerational cag repeat instability in spinocerebellar ataxia type i. spinocerebellar ataxia type i (scai) is an autosomal dominant neurodegenerative disease caused by the expansion of a cag trinucleotide repeat on chromosome 6p. |
1994-02-04 |
2023-08-12 |
Not clear |