| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| S O Chan, D Peng, F C Chi. Heterogeneous expression of neurofilament proteins in forebrain and cerebellum during development: clinical implications for spinocerebellar ataxia. Brain research. vol 775. issue 1-2. 1998-03-09. PMID:9439834. |
heterogeneous expression of neurofilament proteins in forebrain and cerebellum during development: clinical implications for spinocerebellar ataxia. |
1998-03-09 |
2023-08-12 |
human |
| M L Hsieh, C Y Yang, H F Tsai, Y Y Chen, C Li, S Y L. The CAG repeats number of spinocerebellar ataxia type 1 gene in normal Taiwanese and in patients with dominant inherited ataxia. Proceedings of the National Science Council, Republic of China. Part B, Life sciences. vol 21. issue 3. 1997-11-21. PMID:9309871. |
spinocerebellar ataxia type 1 (sca 1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. |
1997-11-21 |
2023-08-12 |
Not clear |
| H Hashida, J Goto, H Kurisaki, H Mizusawa, I Kanazaw. Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. Annals of neurology. vol 41. issue 4. 1997-04-24. PMID:9124808. |
these observations suggest that granule cells in the cerebellum and hippocampus have low levels of cag repeat expansion, and that other types of cells exhibit a higher level of cag repeat expansion, in spinocerebellar ataxias. |
1997-04-24 |
2023-08-12 |
Not clear |
| G Stevanin, Y Trottier, G Cancel, A Dürr, G David, O Didierjean, K Bürk, G Imbert, F Saudou, M Abada-Bendib, I Gourfinkel-An, A Benomar, N Abbas, T Klockgether, D Grid, Y Agid, J L Mandel, A Bric. Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Human molecular genetics. vol 5. issue 12. 1997-03-14. PMID:8968739. |
expansion of trinucleotide cag repeats coding for polyglutamine has been implicated in five neurodegenerative disorders, including spinocerebellar ataxia (sca) 1 and sca3 or machado-joseph disease (sca3/mjd), two forms of type i autosomal dominant cerebellar ataxias (adca). |
1997-03-14 |
2023-08-12 |
Not clear |