| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| K Bürk, M Abele, M Fetter, J Dichgans, M Skalej, F Laccone, O Didierjean, A Brice, T Klockgethe. Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain : a journal of neurology. vol 119 ( Pt 5). 1997-01-06. PMID:8931575. |
sixty-five patients suffering from autosomal dominant cerebellar ataxia-i(adca-1) were subjected genotype phenotype correlation analysis using molecular genetic assignment to the spinocerebellar ataxia type 1, 2 or 3 (sca1, -2 or -3) locus, clinical examination, eye movement recording and morphometric analysis of mris. |
1997-01-06 |
2023-08-12 |
Not clear |
| L Bettendorff, F Mastrogiacomo, J LaMarche, S Dozić, S J Kis. Brain levels of thiamine and its phosphate esters in Friedreich's ataxia and spinocerebellar ataxia type 1. Movement disorders : official journal of the Movement Disorder Society. vol 11. issue 4. 1996-12-26. PMID:8813226. |
to determine whether a thiamine deficiency is present in the brain, we measured levels of thiamine and its phosphate esters thiamine monophosphate (tmp) and thiamine diphosphate (tdp), in postmortem cerebellar and cerebral cortices of patients with friedreich's ataxia (fa) and spinocerebellar ataxia type 1 (sca1). |
1996-12-26 |
2023-08-12 |
Not clear |
| K Sanpei, H Takano, S Igarashi, T Sato, M Oyake, H Sasaki, A Wakisaka, K Tashiro, Y Ishida, T Ikeuchi, R Koide, M Saito, A Sato, T Tanaka, S Hanyu, Y Takiyama, M Nishizawa, N Shimizu, Y Nomura, M Segawa, K Iwabuchi, I Eguchi, H Tanaka, H Takahashi, S Tsuj. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature genetics. vol 14. issue 3. 1996-12-16. PMID:8896556. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominant, neurodegenerative disorder that affects the cerebellum and other areas of the central nervous system. |
1996-12-16 |
2023-08-12 |
Not clear |