| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| D E McNeil, W M Linehan, G M Glen. Comorbid genetic diseases, von Hippel-Lindau disease and spinocerebellar ataxia type 2, confounding the diagnosis of cerebellar dysfunction in an adolescent. Clinical neurology and neurosurgery. vol 103. issue 4. 2002-02-26. PMID:11714564. |
comorbid genetic diseases, von hippel-lindau disease and spinocerebellar ataxia type 2, confounding the diagnosis of cerebellar dysfunction in an adolescent. |
2002-02-26 |
2023-08-12 |
Not clear |
| J A Cholfin, M J Sobrido, S Perlman, S M Pulst, D H Geschwin. The SCA12 mutation as a rare cause of spinocerebellar ataxia. Archives of neurology. vol 58. issue 11. 2001-12-07. PMID:11708992. |
spinocerebellar ataxias are a group of phenotypically and genetically heterogeneous disorders characterized by progressive degeneration of the cerebellum. |
2001-12-07 |
2023-08-12 |
Not clear |
| R J Sinke, E F Ippel, C M Diepstraten, F A Beemer, J H Wokke, B J van Hilten, N V Knoers, H K van Amstel, H P Kreme. Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families. Archives of neurology. vol 58. issue 11. 2001-12-07. PMID:11708993. |
autosomal dominant cerebellar ataxias (adcas), or spinocerebellar ataxias (scas), are a heterogeneous group of neurodegenerative disorders. |
2001-12-07 |
2023-08-12 |
Not clear |
| T Saka. Effects of tetrahydrobiopterin on ataxia in Machado-Joseph disease may be based upon the theory of 'cerebellar long-term depression'. Medical hypotheses. vol 57. issue 2. 2001-10-18. PMID:11461169. |
if cerebellar long-term depression is the case as the theoretical basis of bh4, it will open a new page of therapeutic strategy for spinocerebellar ataxias. |
2001-10-18 |
2023-08-12 |
Not clear |
| W Soong B, C Lu Y, B Choo K, Y Lee . Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Archives of neurology. vol 58. issue 7. 2001-08-02. PMID:11448300. |
frequency analysis of autosomal dominant cerebellar ataxias in taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. |
2001-08-02 |
2023-08-12 |
Not clear |
| S M Boesch, M Schocke, K Bürk, P Hollosi, F Fornai, F T Aichner, W Poewe, S Felbe. Proton magnetic resonance spectroscopic imaging reveals differences in spinocerebellar ataxia types 2 and 6. Journal of magnetic resonance imaging : JMRI. vol 13. issue 4. 2001-06-07. PMID:11276099. |
the objective of this study was to investigate cerebellar metabolism in patients with autosomal dominant cerebellar ataxia type 1 (adca-i) carrying two distinct mutations of spinocerebellar ataxia (sca). |
2001-06-07 |
2023-08-12 |
Not clear |
| P Bomont, M Watanabe, R Gershoni-Barush, M Shizuka, M Tanaka, J Sugano, C Guiraud-Chaumeil, M Koeni. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. European journal of human genetics : EJHG. vol 8. issue 12. 2001-02-22. PMID:11175288. |
homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. |
2001-02-22 |
2023-08-12 |
Not clear |
| 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 |