-
1
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.
-
(1993)
Adv. Neurol.
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
2
-
-
2642589007
-
Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes
-
Schöls L, Amoifidis G, Büttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes. Ann Neurol 1997;42:924-932.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 924-932
-
-
Schöls, L.1
Amoifidis, G.2
Büttner, T.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
3
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA-6) associated with small polyglutamine expansions in the (1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA-6) associated with small polyglutamine expansions in the (1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
-
(1997)
Nat. 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
-
4
-
-
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;65:565-568.
-
(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
-
5
-
-
0029033627
-
Familial periodic cerebellar ataxia with myokymia maps to a 19-cM region on 19p13
-
Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C. Familial periodic cerebellar ataxia with myokymia maps to a 19-cM region on 19p13. Am J Hum Genet 1995;56: 1143-1449.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1143-1449
-
-
Teh, B.T.1
Silburn, P.2
Lindblad, K.3
Betz, R.4
Boyle, R.5
Schalling, M.6
Larsson, C.7
-
6
-
-
0031015937
-
Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
-
Baloh RW, Yue Q, Furman JM, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 1997;41:8-16.
-
(1997)
Ann. Neurol.
, vol.41
, pp. 8-16
-
-
Baloh, R.W.1
Yue, Q.2
Furman, J.M.3
Nelson, S.F.4
-
7
-
-
0028963974
-
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p
-
Vahedi K, Joutel A, Van Bogaert P, Ducros A, Maciazeck J, Bach JF, Bousser MG, Tournier-Lasserve E. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37:289-293.
-
(1995)
Ann. Neurol.
, vol.37
, pp. 289-293
-
-
Vahedi, K.1
Joutel, A.2
Van Bogaert, P.3
Ducros, A.4
Maciazeck, J.5
Bach, J.F.6
Bousser, M.G.7
Tournier-Lasserve, E.8
-
8
-
-
0033772440
-
Extrapyramidal motor signs in degenerative ataxias
-
Schols L, Peters S, Szymanski S, Kruger R, Lange S, Hardt C, Riess O, Przuntek H. Extrapyramidal motor signs in degenerative ataxias. Arch Neurol 2000;57:1495-1500.
-
(2000)
Arch. Neurol.
, vol.57
, pp. 1495-1500
-
-
Schols, L.1
Peters, S.2
Szymanski, S.3
Kruger, R.4
Lange, S.5
Hardt, C.6
Riess, O.7
Przuntek, H.8
-
9
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
colleagues
-
Stevanin G, Dürr A, David G, colleagues. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997;49: 1243-1246.
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
Dürr, A.2
David, G.3
-
10
-
-
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;49:1247-1251.
-
(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
-
11
-
-
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: 1238-1243.
-
(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
-
12
-
-
0031442152
-
Spinocerebellar ataxia type 6: CAG repeat expansion in (1A 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. Spinocerebellar ataxia type 6: CAG repeat expansion in (1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997; 42:879-884.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 879-884
-
-
Ikeuchi, T.1
Takano, H.2
Koide, R.3
Horikawa, Y.4
Honma, Y.5
Onishi, Y.6
Igarashi, S.7
Tanaka, H.8
Nakao, N.9
Sahashi, K.10
Tsukagoshi, H.11
Inoue, K.12
Takahashi, H.13
Tsuji, S.14
-
13
-
-
0033983686
-
Pontine atrophy in spinocerebellar ataxia type 6
-
Sugawara M, Toyoshima I, Wada C, Kato K, Ishikawa K, Hirota K, Ishiguro H, Kagaya H, Hirata Y, Imota T, Ogasawara M, Masamune O. Pontine atrophy in spinocerebellar ataxia type 6. Eur Neurol 2000;43:17-22.
-
(2000)
Eur. Neurol.
, vol.43
, pp. 17-22
-
-
Sugawara, M.1
Toyoshima, I.2
Wada, C.3
Kato, K.4
Ishikawa, K.5
Hirota, K.6
Ishiguro, H.7
Kagaya, H.8
Hirata, Y.9
Imota, T.10
Ogasawara, M.11
Masamune, O.12
-
14
-
-
0032784473
-
A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy
-
Nakagawa N, Katayama T, Makita Y, Kuroda K, Aizawa H, Kikuchi K. A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy. Neuroradiology 1999;41:501-503.
-
(1999)
Neuroradiology
, vol.41
, pp. 501-503
-
-
Nakagawa, N.1
Katayama, T.2
Makita, Y.3
Kuroda, K.4
Aizawa, H.5
Kikuchi, K.6
-
15
-
-
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;42:933-950.
-
(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
-
16
-
-
0020552977
-
Blepharospasm associated with brainstem lesions
-
Jankovic J, Patel SC. Blepharospasm associated with brainstem lesions. Neurology 1983;33:1237-1240.
-
(1983)
Neurology
, vol.33
, pp. 1237-1240
-
-
Jankovic, J.1
Patel, S.C.2
-
17
-
-
0030055198
-
Cervical dystonia as the initial presentation of Huntington's disease
-
Ashizawa T, Jankovic: J. Cervical dystonia as the initial presentation of Huntington's disease. Mov Disord 1996; 11:457-459.
-
(1996)
Mov. Disord.
, vol.11
, pp. 457-459
-
-
Ashizawa, T.1
Jankovic, J.2
-
18
-
-
0033707958
-
Niemann-Pick disease type C: Two cases and review of literature
-
Uc EY, Wenger DA, Jankovic J. Niemann-Pick disease type C: two cases and review of literature. Mov Disord 2000;15:1199-1203.
-
(2000)
Mov. Disord.
, vol.15
, pp. 1199-1203
-
-
Uc, E.Y.1
Wenger, D.A.2
Jankovic, J.3
|