| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| J H Anderson, M C Yavuz, B M Kazar, P Christova, C M Gome. The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. Archives italiennes de biologie. vol 140. issue 4. 2003-01-22. PMID:12228985. |
the autosomal dominant spinocerebellar ataxias (scas) are a group of neurodegenerative diseases characterized by progressive instability of posture and gait, incoordination, ocular motor dysfunction, and dysarthria due to degeneration of cerebellar and brainstem neurons. |
2003-01-22 |
2023-08-12 |
Not clear |
| Ichiro Yabe, Hidenao Sasaki, Seiji Kikuchi, Michio Nonaka, Fumio Moriwaka, Kunio Tashir. Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA). Journal of neurology. vol 249. issue 4. 2002-12-24. PMID:11967648. |
atrophy of the cerebellum and brain stem an ct or mri had suggested dominant spinocerebellar ataxia as a diagnosis in their ataxia-predominant stage, with a diagnosis of drpla being impossible based on the clinical findings alone. |
2002-12-24 |
2023-08-12 |
Not clear |
| K Ishikaw. [Autosomal dominant cortical cerebellar atrophy (ADCCA) linked to chromosome 16q]. Rinsho shinkeigaku = Clinical neurology. vol 41. issue 12. 2002-11-08. PMID:12235813. |
the clinical characteristics of our 6 families with 16q-adcca were slowly progressive pure cerebellar syndrome with late age of onset (average +/- sd years: 55.9 +/- 10.0), which contrasts with more earlier onset, prominent sensory neuropathy and pyramidal tract signs seen in spinocerebellar ataxia type 4 (sca4) linked to the same chromosomal region. |
2002-11-08 |
2023-08-12 |
Not clear |
| Jenni Jonasson, Anna-Lena Ström, Patricia Hart, Thomas Brännström, Lars Forsgren, Monica Holmber. Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals. Acta neuropathologica. vol 104. issue 1. 2002-09-13. PMID:12070661. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disorder primarily affecting the cerebellum, brain stem and retina. |
2002-09-13 |
2023-08-12 |
Not clear |
| Masatada Mori, Yoshiki Adachi, Nozomi Mori, Saiko Kurihara, Yoshihiro Kashiwaya, Masayoshi Kusumi, Takao Takeshima, Kenji Nakashim. Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. Journal of the neurological sciences. vol 195. issue 2. 2002-05-30. PMID:11897246. |
the estimated improvement in kinetic functions compared with pretreatment (p<0.01) was significant after treatment with bcaa, 1.5 and 3.0 g. all of the responders manifested predominantly cerebellar symptoms, especially those with spinocerebellar ataxia type 6 (sca6). |
2002-05-30 |
2023-08-12 |
Not clear |
| Joanna T Pang, Paola Giunti, Susan Chamberlain, Shu F An, Roberta Vitaliani, Tomaso Scaravilli, Lillian Martinian, Nicholas W Wood, Francesco Scaravilli, Olaf Ansorg. Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain : a journal of neurology. vol 125. issue Pt 3. 2002-05-03. PMID:11872620. |
spinocerebellar ataxia 2 (sca2) belongs to the family of autosomal dominant cerebellar ataxias (adca), a genetically heterogeneous group of neurodegenerative diseases. |
2002-05-03 |
2023-08-12 |
Not clear |
| 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 |