| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| S Gilman, A A Sima, L Junck, K J Kluin, R A Koeppe, M E Lohman, R Littl. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Annals of neurology. vol 39. issue 2. 1996-12-12. PMID:8967756. |
spinocerebellar ataxia type 1 (sca1) is a dominantly inherited progressive neurological disorder characterized by neuronal degeneration and reactive gliosis in the cerebellum, brainstem, spinocerebellar tracts, and dorsal columns. |
1996-12-12 |
2023-08-12 |
Not clear |
| I Lopes-Cendes, P Maciel, S Kish, C Gaspar, Y Robitaille, H B Clark, A H Koeppen, M Nance, L Schut, I Silveira, P Coutinho, J Sequeiros, G A Roulea. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Annals of neurology. vol 40. issue 2. 1996-10-16. PMID:8773601. |
spinocerebellar ataxia type 1 and machado-joseph disease are two autosomal dominant cerebellar ataxias caused by expansions of unstable cag repeats in the coding region of the causative genes. |
1996-10-16 |
2023-08-12 |
Not clear |
| I Lopes-Cendes, P Maciel, S Kish, C Gaspar, Y Robitaille, H B Clark, A H Koeppen, M Nance, L Schut, I Silveira, P Coutinho, J Sequeiros, G A Roulea. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Annals of neurology. vol 40. issue 2. 1996-10-16. PMID:8773601. |
to study the association between neuropathological changes and somatic mosaicism of the cag repeat size in the central nervous system of patients with these two ataxias, we determined the size of the (cag)n expansion in 20 different regions of the brain, brainstem, cerebellum, and spinal cord from 3 patients with spinocerebellar ataxia type 1 and 3 with machado-joseph disease; these regions were selected for their differential neuropathological involvement in the two disorders. |
1996-10-16 |
2023-08-12 |
Not clear |
| M Watanabe, K Abe, M Aoki, T Kameya, J Kaneko, M Shoji, M Ikeda, M Shizuka, Y Ikeda, T Iizuka, S Hirai, Y Itoyam. Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease. Journal of the neurological sciences. vol 136. issue 1-2. 1996-10-04. PMID:8815156. |
there are currently some types of autosomal dominant cerebellar ataxias such as machado-joseph disease (mjd), spinocerebellar ataxia types 1-5 (sca1-5), or hereditary dentatorubropallidoluysian atrophy. |
1996-10-04 |
2023-08-12 |
Not clear |
| F Mastrogiacomo, J LaMarche, S Dozić, G Lindsay, L Bettendorff, Y Robitaille, L Schut, S J Kis. Immunoreactive levels of alpha-ketoglutarate dehydrogenase subunits in Friedreich's ataxia and spinocerebellar ataxia type 1. Neurodegeneration : a journal for neurodegenerative disorders, neuroprotection, and neuroregeneration. vol 5. issue 1. 1996-09-24. PMID:8731379. |
to determine whether an enzyme abnormality occurs in brain, we measured immunoreactive levels of the three alpha kgdhc subunits, namely, alpha-ketoglutarate dehydrogenase (e1), dihydrolipoamide succinyltransferase (e2) and e3 in postmortem frontal, occipital and cerebellar cortices of 18 control subjects, 9 patients with fa and, for comparison, 12 patients with spinocerebellar ataxia type 1 (sca1). |
1996-09-24 |
2023-08-12 |
human |
| H Maruyama, H Kawakami, S Nakamur. Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR. Human genetics. vol 97. issue 5. 1996-07-26. PMID:8655136. |
hereditary cerebellar ataxias, including spinocerebellar ataxia type i (sca1), dentato-rubro-pallidoluysian atrophy (drpla), and machado-joseph disease (mjd), have been associated with unstable cag repeats. |
1996-07-26 |
2023-08-12 |
Not clear |