-
1
-
-
0031012399
-
1A-voltage-dependent calcium channel
-
1A-voltage-dependent calcium channel. Nature Genet 1997; 15: 62-9.
-
(1997)
Nature Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
-
2
-
-
0031278715
-
CAG repeats in SCA6: Anticipating new clues
-
Zoghbi HY. CAG repeats in SCA6: Anticipating new clues. Neurology 1997; 49: 1196-9.
-
(1997)
Neurology
, vol.49
, pp. 1196-1199
-
-
Zoghbi, H.Y.1
-
3
-
-
0030679611
-
Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
-
Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, Suzumura A, Takayanagi T. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997; 49: 1238-43.
-
(1997)
Neurology
, vol.49
, pp. 1238-1243
-
-
Matsumura, R.1
Futamura, N.2
Fujimoto, Y.3
Yanagimoto, S.4
Horikawa, H.5
Suzumura, A.6
Takayanagi, T.7
-
4
-
-
0030699138
-
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations
-
Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. Neurology 1997; 49: 1247-51.
-
(1997)
Neurology
, vol.49
, pp. 1247-1251
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, K.P.3
Karrim, J.4
Baloh, R.W.5
Pulst, S.M.6
-
5
-
-
0031454530
-
Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
-
Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 1997; 42: 933-50.
-
(1997)
Ann Neurol
, vol.42
, pp. 933-950
-
-
Gomez, C.M.1
Thompson, R.M.2
Gammack, J.T.3
Perlman, S.L.4
Dobyns, W.B.5
Truwit, C.L.6
Zee, D.S.7
Clark, H.B.8
Anderson, J.H.9
-
6
-
-
0022939362
-
Autosomal dominant episodic ataxia: A heterogeneous syndrome
-
Gancher ST, Nutt JG. Autosomal dominant episodic ataxia: a heterogeneous syndrome. Mov Disord 1986; 1: 239-53.
-
(1986)
Mov Disord
, vol.1
, pp. 239-253
-
-
Gancher, S.T.1
Nutt, J.G.2
-
7
-
-
0026597221
-
Familial periodic cerebellar ataxia: A problem of cerebellar intracellular pH homeostasis
-
Bain PG, O'Brien, Keevil SF, Porter DA. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 1992; 31: 147-54.
-
(1992)
Ann Neurol
, vol.31
, pp. 147-154
-
-
Bain, P.G.1
O'Brien2
Keevil, S.F.3
Porter, D.A.4
-
8
-
-
0025874909
-
Acetazolamide-responsive vestibulocerebellar syndrome: Clinical and oculographic features
-
Baloh RW, Winder A. Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features. Neurology 1991; 41: 429-33.
-
(1991)
Neurology
, vol.41
, pp. 429-433
-
-
Baloh, R.W.1
Winder, A.2
-
9
-
-
0032038873
-
Acetazolamide-responsive hereditary paroxysmal ataxia: Report of a family
-
Kim HJ, Jeon BS. Acetazolamide-responsive hereditary paroxysmal ataxia: report of a family. J Korean Med Sci 1998; 13: 196-200.
-
(1998)
J Korean Med Sci
, vol.13
, pp. 196-200
-
-
Kim, H.J.1
Jeon, B.S.2
-
10
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
-
Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997; 6: 1973-8.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
Mantuano, E.2
Veneziano, L.3
Trettel, F.4
Sabbadini, G.5
Calandriello, L.6
Francia, A.7
Spadaro, M.8
Pierelli, F.9
Salvi, F.10
Ophoff, R.A.11
Frants, R.R.12
Frontali, M.13
-
11
-
-
0031726082
-
Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia
-
Jen JC, Yue Q, Karrim J, Nelson SF, Baloh RW. Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia. J Neurol Neurosurg Psychiatry 1998; 65: 565-8.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.65
, pp. 565-568
-
-
Jen, J.C.1
Yue, Q.2
Karrim, J.3
Nelson, S.F.4
Baloh, R.W.5
-
12
-
-
0032975258
-
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
-
Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gerard P, Devoize JL, Gayou A, Perrouty B, Soisson T, Autret A, Warter JM, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 1999; 52: 1816-21.
-
(1999)
Neurology
, vol.52
, pp. 1816-1821
-
-
Denier, C.1
Ducros, A.2
Vahedi, K.3
Joutel, A.4
Thierry, P.5
Ritz, A.6
Castelnovo, G.7
Deonna, T.8
Gerard, P.9
Devoize, J.L.10
Gayou, A.11
Perrouty, B.12
Soisson, T.13
Autret, A.14
Warter, J.M.15
Vighetto, A.16
Van Bogaert, P.17
Alamowitch, S.18
Roullet, E.19
Tournier-Lasserve, E.20
more..
-
13
-
-
0027342814
-
Clinical feature and classification of inherited ataxias
-
Harding AE. Clinical feature and classification of inherited ataxias. Adv Neurol 1993; 61: 1-14.
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
14
-
-
0031883338
-
Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6)
-
Sasaki H, Kojima H, Yabe I, Tashiro K, Hamada T, Sawa H, Hiraga H, Naga-shima K. Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). Acta Neuropathol (Berl) 1998; 95: 199-204.
-
(1998)
Acta Neuropathol (Berl)
, vol.95
, pp. 199-204
-
-
Sasaki, H.1
Kojima, H.2
Yabe, I.3
Tashiro, K.4
Hamada, T.5
Sawa, H.6
Hiraga, H.7
Naga-shima, K.8
-
15
-
-
0034279182
-
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. 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 2000; 20: 6394-403.
-
(2000)
J Neurosci
, vol.20
, pp. 6394-6403
-
-
Restituito, S.1
Thompson, R.M.2
Eliet, J.3
Raike, R.S.4
Riedl, M.5
Charnet, P.6
Gomez, C.M.7
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