메뉴 건너뛰기




Volumn SEP, Issue , 2011, Pages

Large genomic deletions in CACNA1A cause episodic ataxia type 2

Author keywords

CACNA1A; EA2; Episodic ataxia; Genomic rearrangement; Mutation

Indexed keywords


EID: 84865850387     PISSN: None     EISSN: 16642295     Source Type: Journal    
DOI: 10.3389/fneur.2011.00051     Document Type: Article
Times cited : (32)

References (26)
  • 1
    • 77953054585 scopus 로고    scopus 로고
    • The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia
    • Alvina, K., and Khodakhah, K. (2010). The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia. J. Neurosci. 30, 7258-7268.
    • (2010) J. Neurosci. , vol.30 , pp. 7258-7268
    • Alvina, K.1    Khodakhah, K.2
  • 2
    • 70349318211 scopus 로고    scopus 로고
    • The impact of retrotransposons on human genome evolution
    • Cordaux, R., and Batzer, M. A. (2009). The impact of retrotransposons on human genome evolution. Nat. Rev. Genet. 10, 691-703.
    • (2009) Nat. Rev. Genet. , vol.10 , pp. 691-703
    • Cordaux, R.1    Batzer, M.A.2
  • 5
    • 50049109437 scopus 로고    scopus 로고
    • Episodic ataxia: SLC1A3 and CACNB4 do not explain the appar-ent genetic heterogeneity
    • Graves, T. D., and Hanna, M. G. (2008). Episodic ataxia: SLC1A3 and CACNB4 do not explain the appar-ent genetic heterogeneity. J. Neurol. 255, 1097-1099.
    • (2008) J. Neurol. , vol.255 , pp. 1097-1099
    • Graves, T.D.1    Hanna, M.G.2
  • 6
    • 0018122266 scopus 로고
    • Hereditary paroxysmal ataxia: response to acetazolamide
    • Griggs, R. C., Moxley, R. T. III, Lafrance, R. A., and McQuillen, J. (1978). Hereditary paroxysmal ataxia: response to acetazolamide. Neurology 28, 1259-1264.
    • (1978) Neurology , vol.28 , pp. 1259-1264
    • Griggs, R.C.1    Moxley III, R.T.2    Lafrance, R.A.3    McQuillen, J.4
  • 8
    • 0347722572 scopus 로고    scopus 로고
    • Clinical spectrum of episodic ataxia type 2
    • Jen, J., Kim, G. W., and Baloh, R. W. (2004). Clinical spectrum of episodic ataxia type 2. Neurology 62, 17-22.
    • (2004) Neurology , vol.62 , pp. 17-22
    • Jen, J.1    Kim, G.W.2    Baloh, R.W.3
  • 9
    • 34848869371 scopus 로고    scopus 로고
    • Primary episodic ataxias: diagnosis, pathogenesis and treat-ment
    • CINCH Investigators.
    • Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., and CINCH Investigators. (2007). Primary episodic ataxias: diagnosis, pathogenesis and treat-ment. Brain 130, 2484-2493.
    • (2007) Brain , vol.130 , pp. 2484-2493
    • Jen, J.C.1    Graves, T.D.2    Hess, E.J.3    Hanna, M.G.4    Griggs, R.C.5    Baloh, R.W.6
  • 10
    • 33646430325 scopus 로고    scopus 로고
    • Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2
    • Jeng, C. J., Chen, Y. T., Chen, Y. W., and Tang, C. Y. (2006). Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2. Am. J. Physiol. Cell Physiol. 290, C1209- C1220.
    • (2006) Am. J. Physiol. Cell Physiol. , vol.290
    • Jeng, C.J.1    Chen, Y.T.2    Chen, Y.W.3    Tang, C.Y.4
  • 16
    • 2942586821 scopus 로고    scopus 로고
    • Dominant-negative cal-cium channel suppression by trun-cated constructs involves a kinase implicated in the unfolded protein response
    • Page, K. M., Heblich, F., Davies, A., Butcher, A. J., Leroy, J., Bertaso, F., Pratt, W. S., and Dolphin, A. C. (2004). Dominant-negative cal-cium channel suppression by trun-cated constructs involves a kinase implicated in the unfolded protein response. J. Neurosci. 24, 5400-5409.
    • (2004) J. Neurosci. , vol.24 , pp. 5400-5409
    • Page, K.M.1    Heblich, F.2    Davies, A.3    Butcher, A.J.4    Leroy, J.5    Bertaso, F.6    Pratt, W.S.7    Dolphin, A.C.8
  • 17
    • 74049152522 scopus 로고    scopus 로고
    • N termi-nus is key to the dominant nega-tive suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2
    • Page, K. M., Heblich, F., Margas, W., Pratt, W. S., Nieto-Rostro, M., Chag-gar, K., Sandhu, K., Davies, A., and Dolphin, A. C. (2010). N termi-nus is key to the dominant nega-tive suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2. J. Biol. Chem. 285, 835-844.
    • (2010) J. Biol. Chem. , vol.285 , pp. 835-844
    • Page, K.M.1    Heblich, F.2    Margas, W.3    Pratt, W.S.4    Nieto-Rostro, M.5    Chag-gar, K.6    Sandhu, K.7    Davies, A.8    Dolphin, A.C.9
  • 20
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten, J. P., McElgunn, C. J., Waaijer, R., Zwijnenburg, D., Diepvens, F., and Pals, G. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57.
    • (2002) Nucleic Acids Res. , vol.30
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6
  • 22
    • 2342663131 scopus 로고    scopus 로고
    • Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine
    • Strupp, M., Kalla, R., Dichgans, M., Freilinger, T., Glasauer, S., and Brandt, T. (2004). Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. Neurology 62, 1623-1625.
    • (2004) Neurology , vol.62 , pp. 1623-1625
    • Strupp, M.1    Kalla, R.2    Dichgans, M.3    Freilinger, T.4    Glasauer, S.5    Brandt, T.6
  • 23
    • 17644405076 scopus 로고    scopus 로고
    • Potassium channel block-ers inhibit the triggers of attacks in the calcium channel mouse mutant tottering
    • Weisz, C. J., Raike, R. S., Soria-Jasso, L. E., and Hess, E. J. (2005). Potassium channel block-ers inhibit the triggers of attacks in the calcium channel mouse mutant tottering. J. Neurosci. 25, 4141-4145.
    • (2005) J. Neurosci. , vol.25 , pp. 4141-4145
    • Weisz, C.J.1    Raike, R.S.2    Soria-Jasso, L.E.3    Hess, E.J.4
  • 26
    • 34248511708 scopus 로고    scopus 로고
    • Antisense oligonucleotide-induced exon skip-ping across the human dystrophin gene transcript
    • Wilton, S. D., Fall, A. M., Harding, P. L., McClorey, G., Coleman, C., and Fletcher, S. (2007). Antisense oligonucleotide-induced exon skip-ping across the human dystrophin gene transcript. Mol. Ther. 15, 1288-1296.
    • (2007) Mol. Ther. , vol.15 , pp. 1288-1296
    • Wilton, S.D.1    Fall, A.M.2    Harding, P.L.3    McClorey, G.4    Coleman, C.5    Fletcher, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.