| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| A Nechiporuk, I Lopes-Cendes, T Nechiporuk, S Starkman, E Andermann, G A Rouleau, J S Weissenbach, E Kort, S M Puls. Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12. Neurology. vol 46. issue 6. 1996-07-25. PMID:8649579. |
the dominant spinocerebellar ataxias are a genetically heterogeneous group of diseases leading to premature death of neurons in the cerebellum and other parts of the nervous system. |
1996-07-25 |
2023-08-12 |
human |
| G Haberhausen, M S Damian, F Leweke, U Mülle. Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). Journal of the neurological sciences. vol 132. issue 1. 1996-01-19. PMID:8523034. |
spinocerebellar ataxia, type 3 (sca3) and machado-joseph disease (mjd) are two clinically distinct representatives of the heterogeneous group of autosomal dominant cerebellar ataxias. |
1996-01-19 |
2023-08-12 |
Not clear |
| L G Gouw, C D Kaplan, J H Haines, K B Digre, S L Rutledge, A Matilla, M Leppert, H Y Zoghbi, L J Ptáce. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature genetics. vol 10. issue 1. 1995-09-25. PMID:7647799. |
a heterogeneous group of neurological disorders known as the spinocerebellar ataxias (sca) are characterized by degeneration of the cerebellum, spinal cord and brainstem. |
1995-09-25 |
2023-08-12 |
Not clear |
| A Riva, G B Brada. Primary cerebellar and spino-cerebellar ataxia an MRI study on 63 cases. Journal of neuroradiology = Journal de neuroradiologie. vol 22. issue 2. 1995-09-05. PMID:7629572. |
63 patients with primary cerebellar and spinocerebellar ataxia have been studied with mri. |
1995-09-05 |
2023-08-12 |
Not clear |
| A Dürr, A Brice, A Lepage-Lezin, G Cancel, D Smadja, J C Vernant, Y Agi. Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). Clinical neuroscience (New York, N.Y.). vol 3. issue 1. 1995-08-24. PMID:7614088. |
spinocerebellar ataxia 2 (sca2) is one of the loci for the clinically and genetically heterogeneous group of autosomal dominant type i cerebellar ataxias. |
1995-08-24 |
2023-08-12 |
Not clear |
| S J Kish, L J Chang, L M Dixon, Y Robitaille, L DiStefan. Cerebellar glutamate metabolizing enzymes in spinocerebellar ataxia type I. Metabolic brain disease. vol 9. issue 1. 1994-09-09. PMID:7914669. |
cerebellar glutamate metabolizing enzymes in spinocerebellar ataxia type i. |
1994-09-09 |
2023-08-12 |
Not clear |
| S J Kish, L J Chang, L M Dixon, Y Robitaille, L DiStefan. Cerebellar glutamate metabolizing enzymes in spinocerebellar ataxia type I. Metabolic brain disease. vol 9. issue 1. 1994-09-09. PMID:7914669. |
we measured the levels of three glutamate metabolizing enzymes, namely, glutamate dehydrogenase (gdh), aspartate aminotransferase (aat), and glutamine synthetase (gs) in cerebellar and occipital cortices of nine patients with dominantly-inherited olivopontocerebellar atrophy (opca; spinocerebellar ataxia type i). |
1994-09-09 |
2023-08-12 |
Not clear |
| F Mastrogiacomo, S J Kis. Cerebellar alpha-ketoglutarate dehydrogenase activity is reduced in spinocerebellar ataxia type 1. Annals of neurology. vol 35. issue 5. 1994-06-09. PMID:7910005. |
cerebellar alpha-ketoglutarate dehydrogenase activity is reduced in spinocerebellar ataxia type 1. |
1994-06-09 |
2023-08-12 |
Not clear |
| H T Orr, M Y Chung, S Banfi, T J Kwiatkowski, A Servadio, A L Beaudet, A E McCall, L A Duvick, L P Ranum, H Y Zoghb. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature genetics. vol 4. issue 3. 1993-09-24. PMID:8358429. |
spinocerebellar ataxia type 1 (sca1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. |
1993-09-24 |
2023-08-12 |
Not clear |
| E R Limber, G H Bresnick, R M Lebovitz, R E Appen, E F Gilbert-Barness, R M Paul. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome) American journal of medical genetics. vol 33. issue 3. 1989-11-17. PMID:2801777. |
spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (boucher-neuhäuser syndrome) we describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy result from abnormal function of an autosomal recessive gene. |
1989-11-17 |
2023-08-11 |
Not clear |