Big Chemical Encyclopedia

Chemical substances, components, reactions, process design ...

Articles Figures Tables About

Spinocerebellar ataxia type

Duyckaerts C, Durr A, Cancel G, Brice A. Nuclear inclusions in spinocerebellar ataxia type 1. Acta Neuropathol Berl 1999 97 201-207. [Pg.271]

Holmberg M, Duyckaerts C, Durr A, Cancel G, Gourfinkel An I, Damier P, Faucheux B, Trottier Y, Hirsch EC, Agid Y, Brice A. Spinocerebellar ataxia type 7 (SCA7) a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 1998 7 913-918. [Pg.271]

Spinocerebellar ataxia type 1 [8] SCA1 6p23 paternal 6-39... [Pg.779]

Ikeuchi, T., Takano, H., Koide, R. et al Spinocerebellar ataxia type 6 CAG repeat expansion in alA voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann. Neurol 42 879-884,1997. [Pg.779]

Table 1. CACNA1A (Ca 2.1, a 1A) Functional results for mutations associated with FHM = familial hemiplegic migraine, EA2 = episodic ataxia type 2, SCA6 = spinocerebellar ataxia type 6, PCA = progressive cerebellar ataxia (although addition mutations have been associated with these disorders, only those with reported functional data are listed)... Table 1. CACNA1A (Ca 2.1, a 1A) Functional results for mutations associated with FHM = familial hemiplegic migraine, EA2 = episodic ataxia type 2, SCA6 = spinocerebellar ataxia type 6, PCA = progressive cerebellar ataxia (although addition mutations have been associated with these disorders, only those with reported functional data are listed)...
Figure 1. Mutations in the human Cnv 2.1 (P/Q-type) voltage-gated calcium channel associated with Familial Hemiplegic Migraine (FHM) and Spinocerebellar Ataxia Type-6 (SCA6)... Figure 1. Mutations in the human Cnv 2.1 (P/Q-type) voltage-gated calcium channel associated with Familial Hemiplegic Migraine (FHM) and Spinocerebellar Ataxia Type-6 (SCA6)...
Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, Komatsuzaki Y, Torn S, Toriyama H, Watanabe M, Ohkoshi N, Shoji S, Kanazawa I, Tanabe T, Mizusawa H (1999) Abundant expression and cytoplasmic aggregations of [alpha] 1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum Mol Genet 8 1185-1193. [Pg.246]

Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H (1997) Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19pl3.1-pl3.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19pl 3.1. Am J Hum Genet 61 336-346. [Pg.246]

Piedras-Renteria ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW (2001) Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. J Neurosci 21 9185—9193. [Pg.249]

Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Chamet P, Gomez CM (2000) The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. J Neurosci 20 6394—6403. [Pg.249]

Torn S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T (2000) Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. J Biol Chem 275 10893—10898. [Pg.250]

Burk K, Globas C, Bosch S, Klockgether T, Ziihlke C, et al. 2003. Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3. J Neurol 250 207-211. [Pg.222]

Joo EJ, Lee JH, Cannon TD, Price RA. 1999. Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23. Psychiatr Genet 9 7-11. [Pg.228]

Pujana MA, Martorell L, Volpini V, Valero J, Labad A, et al. 1997. Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients. Hum Genet 99 772-775. [Pg.235]

Spinocerebellar Ataxia Type 3 (SCA3 Machado-Joseph Disease). 332... [Pg.321]

Spinocerebellar ataxia type 12 (SCA 12) SCA72 5q31-33 CAG PP2A-PR55P... [Pg.323]

Spinocerebellar ataxia type 1 (SCAl) SCAl 6p23 Ataxin-1 6 4 39-82 n... [Pg.329]

Spinocerebellar ataxia type 2 (SCA2) SCA2 12q24.1 Ataxin-2 15-31 36-63 c... [Pg.329]

Spinocerebellar ataxia type 3 (SCA3, Machado-Joseph disease) SCA3 (MIDI) 14q32.1 Ataxin-3 12-40 45-84 n,c... [Pg.329]

Spinocerebellar ataxia type 6 (SCA6) SCA6(CACNAIA) 19pl3 aiA-Voltage-dependent channel subunit 4-18 21-33 c... [Pg.329]

Spinocerebellar ataxia type 7 (SCA7) SCA7 13pl2-13 Ataxin-7 4-35 37 60 n... [Pg.329]

Spinocerebellar ataxia type 17 (SCAH)" SCAl 7 6q27 TATA-binding protein (TBP) 34<43 45-55 n... [Pg.329]

See other pages where Spinocerebellar ataxia type is mentioned: [Pg.268]    [Pg.779]    [Pg.215]    [Pg.217]    [Pg.223]    [Pg.226]    [Pg.53]    [Pg.12]    [Pg.150]    [Pg.43]    [Pg.210]    [Pg.319]    [Pg.321]    [Pg.321]    [Pg.321]    [Pg.321]    [Pg.321]    [Pg.321]    [Pg.321]    [Pg.323]    [Pg.327]    [Pg.328]    [Pg.331]    [Pg.332]    [Pg.333]    [Pg.334]    [Pg.334]   
See also in sourсe #XX -- [ Pg.6 , Pg.215 , Pg.217 , Pg.218 , Pg.223 , Pg.226 ]

See also in sourсe #XX -- [ Pg.561 ]



SEARCH



Ataxia

Spinocerebellar ataxia

© 2024 chempedia.info