149 related articles for article (PubMed ID: 28131213)
1. Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study.
Soga K; Ishikawa K; Furuya T; Iida T; Yamada T; Ando N; Ota K; Kanno-Okada H; Tanaka S; Shintaku M; Eishi Y; Mizusawa H; Yokota T
J Neurol Sci; 2017 Feb; 373():321-328. PubMed ID: 28131213
[TBL] [Abstract][Full Text] [Related]
2. Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes.
Kato T; Tanaka F; Yamamoto M; Yosida E; Indo T; Watanabe H; Yoshiwara T; Doyu M; Sobue G
Clin Genet; 2000 Jul; 58(1):69-73. PubMed ID: 10945665
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.
Sinke RJ; Ippel EF; Diepstraten CM; Beemer FA; Wokke JH; van Hilten BJ; Knoers NV; van Amstel HK; Kremer HP
Arch Neurol; 2001 Nov; 58(11):1839-44. PubMed ID: 11708993
[TBL] [Abstract][Full Text] [Related]
4. A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.
Takahashi H; Ishikawa K; Tsutsumi T; Fujigasaki H; Kawata A; Okiyama R; Fujita T; Yoshizawa K; Yamaguchi S; Tomiyasu H; Yoshii F; Mitani K; Shimizu N; Yamazaki M; Miyamoto T; Orimo T; Shoji S; Kitamura K; Mizusawa H
J Hum Genet; 2004; 49(5):256-64. PubMed ID: 15362569
[TBL] [Abstract][Full Text] [Related]
5. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6).
Matsuyama Z; Kawakami H; Maruyama H; Izumi Y; Komure O; Udaka F; Kameyama M; Nishio T; Kuroda Y; Nishimura M; Nakamura S
Hum Mol Genet; 1997 Aug; 6(8):1283-7. PubMed ID: 9259274
[TBL] [Abstract][Full Text] [Related]
6. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.
Ikeuchi T; Takano H; Koide R; Horikawa Y; Honma Y; Onishi Y; Igarashi S; Tanaka H; Nakao N; Sahashi K; Tsukagoshi H; Inoue K; Takahashi H; Tsuji S
Ann Neurol; 1997 Dec; 42(6):879-84. PubMed ID: 9403480
[TBL] [Abstract][Full Text] [Related]
7. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Brusco A; Gellera C; Cagnoli C; Saluto A; Castucci A; Michielotto C; Fetoni V; Mariotti C; Migone N; Di Donato S; Taroni F
Arch Neurol; 2004 May; 61(5):727-33. PubMed ID: 15148151
[TBL] [Abstract][Full Text] [Related]
8. [Clinical, neuropathological and genetic characteristics of spinocerebellar ataxia type 6 (SCA6)].
Ishikawa K; Mizusawa H
Nihon Rinsho; 1999 Apr; 57(4):880-5. PubMed ID: 10222783
[TBL] [Abstract][Full Text] [Related]
9. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.
Pulst SM; Santos N; Wang D; Yang H; Huynh D; Velazquez L; Figueroa KP
Brain; 2005 Oct; 128(Pt 10):2297-303. PubMed ID: 16000334
[TBL] [Abstract][Full Text] [Related]
10. Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
Mantuano E; Veneziano L; Jodice C; Frontali M
Cytogenet Genome Res; 2003; 100(1-4):147-53. PubMed ID: 14526175
[TBL] [Abstract][Full Text] [Related]
11. DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.
Tsou WL; Hosking RR; Burr AA; Sutton JR; Ouyang M; Du X; Gomez CM; Todi SV
Hum Mol Genet; 2015 Aug; 24(15):4385-96. PubMed ID: 25954029
[TBL] [Abstract][Full Text] [Related]
12. SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.
Riess O; Schöls L; Bottger H; Nolte D; Vieira-Saecker AM; Schimming C; Kreuz F; Macek M; Krebsová A; Macek M Sen ; Klockgether T; Zühlke C; Laccone FA
Hum Mol Genet; 1997 Aug; 6(8):1289-93. PubMed ID: 9259275
[TBL] [Abstract][Full Text] [Related]
13. [SCA6: From gene identification to recent progress on pathogenesis].
Watase K; Ishikawa K; Mizusawa H
Rinsho Shinkeigaku; 2010 Nov; 50(11):858-60. PubMed ID: 21921472
[TBL] [Abstract][Full Text] [Related]
14. Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.
Lindquist SG; Nørremølle A; Hjermind LE; Hasholt L; Nielsen JE
J Neurol Sci; 2006 Feb; 241(1-2):95-8. PubMed ID: 16310805
[TBL] [Abstract][Full Text] [Related]
15. Molecular pathogenesis of spinocerebellar ataxia type 6.
Kordasiewicz HB; Gomez CM
Neurotherapeutics; 2007 Apr; 4(2):285-94. PubMed ID: 17395139
[TBL] [Abstract][Full Text] [Related]
16. Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration.
Jayabal S; Ljungberg L; Erwes T; Cormier A; Quilez S; El Jaouhari S; Watt AJ
eNeuro; 2015; 2(6):. PubMed ID: 26730403
[TBL] [Abstract][Full Text] [Related]
17. Spinocerebellar [corrected] Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics.
Du X; Gomez CM
Adv Exp Med Biol; 2018; 1049():147-173. PubMed ID: 29427102
[TBL] [Abstract][Full Text] [Related]
18. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.
Restituito S; Thompson RM; Eliet J; Raike RS; Riedl M; Charnet P; Gomez CM
J Neurosci; 2000 Sep; 20(17):6394-403. PubMed ID: 10964945
[TBL] [Abstract][Full Text] [Related]
19. Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum.
Takahashi M; Ishikawa K; Sato N; Obayashi M; Niimi Y; Ishiguro T; Yamada M; Toyoshima Y; Takahashi H; Kato T; Takao M; Murayama S; Mori O; Eishi Y; Mizusawa H
Neuropathology; 2012 Dec; 32(6):595-603. PubMed ID: 22393909
[TBL] [Abstract][Full Text] [Related]
20. Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.
Wiethoff S; O'Connor E; Haridy NA; Nethisinghe S; Wood N; Giunti P; Bettencourt C; Houlden H
J Neurol Neurosurg Psychiatry; 2018 Nov; 89(11):1226-1227. PubMed ID: 29367260
[No Abstract] [Full Text] [Related]
[Next] [New Search]