| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| M Hsieh, S J Lin, J F Chen, H M Lin, K M Hsiao, S Y Li, C Li, C J Tsa. Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. Journal of neurology. vol 247. issue 8. 2001-02-01. PMID:11041330. |
spinocerebellar ataxia (sca) type 7 is an autosomal dominant disorder characterized by neural loss, mainly in the cerebellum and regions of the brainstem and particularly the inferior olivary complex. |
2001-02-01 |
2023-08-12 |
Not clear |
| M Jäger, F von Rosen, G Fesl, T Gasse. [Typical anticipation in type 7 spinocerebellar ataxia]. Der Nervenarzt. vol 71. issue 10. 2001-01-11. PMID:11082815. |
spinocerebellar ataxia type 7 (sca7) belongs to the category of autosomal dominant cerebellar ataxias (adca). |
2001-01-11 |
2023-08-12 |
Not clear |
| N T Potter, M A Nanc. Genetic testing for ataxia in North America. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. vol 5. issue 2. 2000-11-21. PMID:11066010. |
the ataxia molecular diagnostics testing group was established to generate quantitative proficiency and outcomes data regarding molecular testing for the autosomal dominant cerebellar ataxias (spinocerebellar ataxia types 1 [sca-1] through -3, -6, and -7, and dentatorubral-pallidoluysian atrophy) in north america. |
2000-11-21 |
2023-08-12 |
Not clear |
| S Restituito, R M Thompson, J Eliet, R S Raike, M Riedl, P Charnet, C M Gome. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 20. issue 17. 2000-09-28. PMID:10964945. |
spinocerebellar ataxia type 6 (sca6) is a dominantly inherited degenerative disorder of the cerebellum characterized by nearly selective and progressive death of purkinje cells. |
2000-09-28 |
2023-08-12 |
xenopus_laevis |
| R Kumagai, Y Kaseda, H Kawakami, S Nakamur. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach. Neuroreport. vol 11. issue 5. 2000-07-10. PMID:10790865. |
in spinocerebellar ataxia type 6 (sca6), the cerebellum is predominantly affected, but several electrophysiological studies have revealed subclinical disorders other than cerebellar lesions. |
2000-07-10 |
2023-08-12 |
Not clear |
| G Modi, M Modi, I Martinus, J Rodda, D Saffe. The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families. Acta neurologica Scandinavica. vol 101. issue 3. 2000-04-11. PMID:10705940. |
spinocerebellar ataxia type 7 is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and retinal degeneration, described in various population groups in the literature. |
2000-04-11 |
2023-08-12 |
Not clear |
| B Legros, M U Mant. [Autosomal dominant spinocerebellar ataxia]. Revue medicale de Bruxelles. vol 20. issue 6. 2000-03-10. PMID:10672773. |
the autosomal dominant spinocerebellar ataxias (sca) are a heterogeneous group of degenerative diseases presenting with ataxic gait, limbs ataxia, dysarthria and cerebellar oculomotor disturbances. |
2000-03-10 |
2023-08-12 |
Not clear |
| D L Burgess, T Matsuura, T Ashizawa, J L Noebel. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Epilepsia. vol 41. issue 1. 2000-01-28. PMID:10643919. |
voltage-dependent calcium channel mutations have been associated with spinocerebellar ataxia in humans (sca6) and with ataxia, progressive cerebellar degeneration, and epilepsy in mice (tottering, lethargic, and stargazer). |
2000-01-28 |
2023-08-12 |
mouse |
| G Stevanin, A Herman, A Brice, A Dür. Clinical and MRI findings in spinocerebellar ataxia type 5. Neurology. vol 53. issue 6. 1999-12-17. PMID:10522902. |
spinocerebellar ataxia type 5 (sca5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to chromosome 11 in a single family descending from the grandparents of president abraham lincoln. |
1999-12-17 |
2023-08-12 |
Not clear |
| W F Kaemmerer, W C Lo. Cerebellar allografts survive and transiently alleviate ataxia in a transgenic model of spinocerebellar ataxia type-1. Experimental neurology. vol 158. issue 2. 1999-08-24. PMID:10415138. |
cerebellar allografts survive and transiently alleviate ataxia in a transgenic model of spinocerebellar ataxia type-1. |
1999-08-24 |
2023-08-12 |
mouse |
| D Babovic-Vuksanovic, K Snow, M C Patterson, V V Michel. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. American journal of medical genetics. vol 79. issue 5. 1999-06-02. PMID:9779806. |
spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. |
1999-06-02 |
2023-08-12 |
Not clear |
| J García-Planells, A Cuesta, J J Vilchez, F Martínez, F Prieto, F Pala. Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. Journal of medical genetics. vol 36. issue 2. 1999-05-12. PMID:10051016. |
spinocerebellar ataxia type 6 (sca6) is an autosomal dominant cerebellar degeneration caused by the expansion of a cag trinucleotide repeat in the cacna1a gene. |
1999-05-12 |
2023-08-12 |
human |
| T Matsuura, M Achari, M Khajavi, L L Bachinski, H Y Zoghbi, T Ashizaw. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Annals of neurology. vol 45. issue 3. 1999-03-29. PMID:10072060. |
mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. |
1999-03-29 |
2023-08-12 |
Not clear |
| D F Condorelli, A Trovato-Salinaro, F Spinella, S Valvo, R Saponara, S Giuffrid. Rapid touchdown PCR assay for the molecular diagnosis of spinocerebellar ataxia type 2. International journal of clinical & laboratory research. vol 28. issue 3. 1999-01-08. PMID:9801928. |
seven different chromosomal loci, designated sca1 to sca7 (spinocerebellar ataxias), have been identified as responsible for autosomal dominant cerebellar ataxias. |
1999-01-08 |
2023-08-12 |
Not clear |
| M Watanabe, Y Sugai, P Concannon, M Koenig, M Schmitt, M Sato, M Shizuka, K Mizushima, Y Ikeda, Y Tomidokoro, K Okamoto, M Shoj. Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein. Annals of neurology. vol 44. issue 2. 1998-08-25. PMID:9708552. |
familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein. |
1998-08-25 |
2023-08-12 |
Not clear |
| A H Koeppe. The hereditary ataxias. Journal of neuropathology and experimental neurology. vol 57. issue 6. 1998-06-25. PMID:9630233. |
the autosomal dominant ataxias such as olivopontocerebellar atrophy (opca), familial cortical cerebellar atrophy (fcca), and machado-joseph disease (mjd) have been renamed the spinocerebellar ataxias (sca). |
1998-06-25 |
2023-08-12 |
human |
| H Watanabe, F Tanaka, M Matsumoto, M Doyu, T Ando, T Mitsuma, G Sobu. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clinical genetics. vol 53. issue 1. 1998-05-21. PMID:9550356. |
frequency analysis of autosomal dominant cerebellar ataxias in japanese patients and clinical characterization of spinocerebellar ataxia type 6. |
1998-05-21 |
2023-08-12 |
Not clear |
| H Watanabe, F Tanaka, M Matsumoto, M Doyu, T Ando, T Mitsuma, G Sobu. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clinical genetics. vol 53. issue 1. 1998-05-21. PMID:9550356. |
using a molecular diagnostic approach, we investigated 101 kindreds with autosomal dominant cerebellar ataxias (adcas) from the central honshu island of japan, including spinocerebellar ataxia type 1 (sca1), spinocerebellar ataxia type 2 (sca2), machado-joseph disease (mjd), dentatorubral and pallidoluysian atrophy (drpla) and spinocerebellar ataxia type 6 (sca6). |
1998-05-21 |
2023-08-12 |
Not clear |
| S Rivaud-Pechoux, A Dürr, B Gaymard, G Cancel, C J Ploner, Y Agid, A Brice, C Pierrot-Deseillign. Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. Annals of neurology. vol 43. issue 3. 1998-04-10. PMID:9506545. |
we compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type i: spinocerebellar ataxias 1 and 2 (sca1, n = 11; sca2, n = 10) and sca3/machado-joseph disease (mjd) (n = 16). |
1998-04-10 |
2023-08-12 |
human |
| J Johansson, L Forsgren, O Sandgren, A Brice, G Holmgren, M Holmber. Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Human molecular genetics. vol 7. issue 2. 1998-03-17. PMID:9425223. |
spinocerebellar ataxia 7 (sca7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. |
1998-03-17 |
2023-08-12 |
Not clear |