-
1
-
-
0344406276
-
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family
-
Alonso I., Barros J., Tuna A., et al. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch Neurol 2003, 60:610-614.
-
(2003)
Arch Neurol
, vol.60
, pp. 610-614
-
-
Alonso, I.1
Barros, J.2
Tuna, A.3
-
2
-
-
0035992977
-
The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8
-
Anderson J.H., Yavuz M.C., Kazar B.M., et al. The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. Arch Ital Biol 2002, 140:323-329.
-
(2002)
Arch Ital Biol
, vol.140
, pp. 323-329
-
-
Anderson, J.H.1
Yavuz, M.C.2
Kazar, B.M.3
-
3
-
-
0031015937
-
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p
-
Baloh R.W., Yue Q., Furman J.M., et al. 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
-
4
-
-
0344009437
-
Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds
-
Bang O.Y., Huh K., Lee P.H., et al. Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds. Arch Neurol 2003, 60:1566-1574.
-
(2003)
Arch Neurol
, vol.60
, pp. 1566-1574
-
-
Bang, O.Y.1
Huh, K.2
Lee, P.H.3
-
5
-
-
0033934458
-
Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India
-
Basu P., Chattopadhyay B., Gangopadhaya P.K., et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet 2000, 106:597-604.
-
(2000)
Hum Genet
, vol.106
, pp. 597-604
-
-
Basu, P.1
Chattopadhyay, B.2
Gangopadhaya, P.K.3
-
6
-
-
0033551452
-
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
-
Battistini S., Stenirri S., Piatti M., et al. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. Neurology 1999, 53:38-43.
-
(1999)
Neurology
, vol.53
, pp. 38-43
-
-
Battistini, S.1
Stenirri, S.2
Piatti, M.3
-
7
-
-
33748085028
-
Restless legs syndrome and motor activity during sleep in spinocerebellar ataxia type 6
-
Boesch S.M., Frauscher B., Brandauer E., et al. Restless legs syndrome and motor activity during sleep in spinocerebellar ataxia type 6. Sleep Med 2006, 7:529-532.
-
(2006)
Sleep Med
, vol.7
, pp. 529-532
-
-
Boesch, S.M.1
Frauscher, B.2
Brandauer, E.3
-
8
-
-
2442464954
-
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., et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004, 61:727-733.
-
(2004)
Arch Neurol
, vol.61
, pp. 727-733
-
-
Brusco, A.1
Gellera, C.2
Cagnoli, C.3
-
9
-
-
0242607883
-
The hereditary adult-onset ataxias in South Africa
-
Bryer A., Krause A., Bill P., et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci 2003, 216:47-54.
-
(2003)
J Neurol Sci
, vol.216
, pp. 47-54
-
-
Bryer, A.1
Krause, A.2
Bill, P.3
-
10
-
-
0030614535
-
Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
-
Burgess D.L., Jones J.M., Meisler M.H., et al. Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 1997, 88:385-392.
-
(1997)
Cell
, vol.88
, pp. 385-392
-
-
Burgess, D.L.1
Jones, J.M.2
Meisler, M.H.3
-
11
-
-
52049098700
-
Calcium channel regulation and presynaptic plasticity
-
Catterall W.A., Few A.P. Calcium channel regulation and presynaptic plasticity. Neuron 2008, 59:882-901.
-
(2008)
Neuron
, vol.59
, pp. 882-901
-
-
Catterall, W.A.1
Few, A.P.2
-
12
-
-
2342514016
-
Prolonged central motor conduction time of lower limb muscle in spinocerebellar ataxia 6
-
Chen J.T., Lin Y.Y., Lee Y.C., et al. Prolonged central motor conduction time of lower limb muscle in spinocerebellar ataxia 6. J Clin Neurosci 2004, 11:381-383.
-
(2004)
J Clin Neurosci
, vol.11
, pp. 381-383
-
-
Chen, J.T.1
Lin, Y.Y.2
Lee, Y.C.3
-
13
-
-
42249095826
-
Impaired eye movements in presymptomatic spinocerebellar ataxia type 6
-
Christova P., Anderson J.H., Gomez C.M. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol 2008, 65:530-536.
-
(2008)
Arch Neurol
, vol.65
, pp. 530-536
-
-
Christova, P.1
Anderson, J.H.2
Gomez, C.M.3
-
14
-
-
0034104316
-
Calcium-induced calcium release in smooth muscle: loose coupling between the action potential and calcium release
-
Collier M.L., Ji G., Wang Y., et al. Calcium-induced calcium release in smooth muscle: loose coupling between the action potential and calcium release. J Gen Physiol 2000, 115:653-662.
-
(2000)
J Gen Physiol
, vol.115
, pp. 653-662
-
-
Collier, M.L.1
Ji, G.2
Wang, Y.3
-
15
-
-
2142812936
-
Molecular epidemiology of spinocerebellar ataxia type 6
-
Craig K., Keers S.M., Archibald K., et al. Molecular epidemiology of spinocerebellar ataxia type 6. Ann Neurol 2004, 55:752-755.
-
(2004)
Ann Neurol
, vol.55
, pp. 752-755
-
-
Craig, K.1
Keers, S.M.2
Archibald, K.3
-
16
-
-
45749103722
-
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
-
Craig K., Takiyama Y., Soong B.W., et al. Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?. Eur J Hum Genet 2008, 16:841-847.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 841-847
-
-
Craig, K.1
Takiyama, Y.2
Soong, B.W.3
-
17
-
-
0033364409
-
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
-
Ducros A., Denier C., Joutel A., et al. Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am J Hum Genet 1999, 64:89-98.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 89-98
-
-
Ducros, A.1
Denier, C.2
Joutel, A.3
-
18
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
Duenas A.M., Goold R., Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain 2006, 129:1357-1370.
-
(2006)
Brain
, vol.129
, pp. 1357-1370
-
-
Duenas, A.M.1
Goold, R.2
Giunti, P.3
-
19
-
-
7044238416
-
Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs
-
Forman M.S., Trojanowski J.Q., Lee V.M. Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs. Nat Med 2004, 10:1055-1063.
-
(2004)
Nat Med
, vol.10
, pp. 1055-1063
-
-
Forman, M.S.1
Trojanowski, J.Q.2
Lee, V.M.3
-
20
-
-
0032872916
-
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA2 and FHM
-
Friend K.L., Crimmins D., Phan T.G., et al. Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA2 and FHM. Hum Genet 1999, 105:261-265.
-
(1999)
Hum Genet
, vol.105
, pp. 261-265
-
-
Friend, K.L.1
Crimmins, D.2
Phan, T.G.3
-
21
-
-
0033614762
-
CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci
-
Frontali M., Novelletto A., Annesi G., et al. CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci. Philos Trans R Soc Lond B Biol Sci 1999, 354:1089-1094.
-
(1999)
Philos Trans R Soc Lond B Biol Sci
, vol.354
, pp. 1089-1094
-
-
Frontali, M.1
Novelletto, A.2
Annesi, G.3
-
22
-
-
0032741995
-
The genetic basis of migraine: how much do we know?
-
Gardner K. The genetic basis of migraine: how much do we know?. Can J Neurol Sci 1999, 26:S37-S43.
-
(1999)
Can J Neurol Sci
, vol.26
-
-
Gardner, K.1
-
23
-
-
41149098478
-
Cognitive and social cognitive functioning in spinocerebellar ataxia: a preliminary characterization
-
Garrard P., Martin N.H., Giunti P., et al. Cognitive and social cognitive functioning in spinocerebellar ataxia: a preliminary characterization. J Neurol 2008, 255:398-405.
-
(2008)
J Neurol
, vol.255
, pp. 398-405
-
-
Garrard, P.1
Martin, N.H.2
Giunti, P.3
-
24
-
-
25844487226
-
Diseases of unstable repeat expansion: mechanisms and common principles
-
Gatchel J.R., Zoghbi H.Y. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005, 6:743-755.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
25
-
-
0030699138
-
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations
-
Geschwind D.H., Perlman S., Figueroa K.P., et al. 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
-
26
-
-
0028987937
-
Calcium signaling in neurons: molecular mechanisms and cellular consequences
-
Ghosh A., Greenberg M.E. Calcium signaling in neurons: molecular mechanisms and cellular consequences. Science 1995, 268:239-247.
-
(1995)
Science
, vol.268
, pp. 239-247
-
-
Ghosh, A.1
Greenberg, M.E.2
-
27
-
-
0028323477
-
Calcium regulation of gene expression in neuronal cells
-
Ghosh A., Ginty D.D., Bading H., et al. Calcium regulation of gene expression in neuronal cells. J Neurobiol 1994, 25:294-303.
-
(1994)
J Neurobiol
, vol.25
, pp. 294-303
-
-
Ghosh, A.1
Ginty, D.D.2
Bading, H.3
-
28
-
-
1642430578
-
The cerebellum and cognition. Intellectual function in spinocerebellar ataxia type 6 (SCA6)
-
Globas C., Bosch S., Zuhlke C., et al. The cerebellum and cognition. Intellectual function in spinocerebellar ataxia type 6 (SCA6). J Neurol 2003, 250:1482-1487.
-
(2003)
J Neurol
, vol.250
, pp. 1482-1487
-
-
Globas, C.1
Bosch, S.2
Zuhlke, C.3
-
29
-
-
61449101789
-
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
-
Globas C., du Montcel S.T., Baliko L., et al. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord 2008, 23:2232-2238.
-
(2008)
Mov Disord
, vol.23
, pp. 2232-2238
-
-
Globas, C.1
du Montcel, S.T.2
Baliko, L.3
-
30
-
-
0033636506
-
Nomenclature of voltage-gated sodium channels
-
Goldin A.L., Barchi R.L., Caldwell J.H., et al. Nomenclature of voltage-gated sodium channels. Neuron 2000, 28:365-368.
-
(2000)
Neuron
, vol.28
, pp. 365-368
-
-
Goldin, A.L.1
Barchi, R.L.2
Caldwell, J.H.3
-
32
-
-
0031454530
-
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
-
Gomez C.M., Thompson R.M., Gammack J.T., et al. 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
-
33
-
-
0030799454
-
Calcium channels in neurological disease
-
Greenberg D.A. Calcium channels in neurological disease. Ann Neurol 1997, 42:275-282.
-
(1997)
Ann Neurol
, vol.42
, pp. 275-282
-
-
Greenberg, D.A.1
-
34
-
-
0028919918
-
Episodic ataxias as channelopathies
-
Griggs R.C., Nutt J.G. Episodic ataxias as channelopathies. Ann Neurol 1995, 37:285-287.
-
(1995)
Ann Neurol
, vol.37
, pp. 285-287
-
-
Griggs, R.C.1
Nutt, J.G.2
-
35
-
-
0030948716
-
The genetic defect causing Huntington's disease: repeated in other contexts?
-
Gusella J.F., Persichetti F., MacDonald M.E. The genetic defect causing Huntington's disease: repeated in other contexts?. Mol Med 1997, 3:238-246.
-
(1997)
Mol Med
, vol.3
, pp. 238-246
-
-
Gusella, J.F.1
Persichetti, F.2
MacDonald, M.E.3
-
37
-
-
2942531056
-
Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6
-
Honjo K., Ohshita T., Kawakami H., et al. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6. Arch Neurol 2004, 61:933-937.
-
(2004)
Arch Neurol
, vol.61
, pp. 933-937
-
-
Honjo, K.1
Ohshita, T.2
Kawakami, H.3
-
38
-
-
33646711951
-
Evaluation of sleep and daytime somnolence in spinocerebellar ataxia type 6 (SCA6)
-
Howell M.J., Mahowald M.W., Gomez C.M. Evaluation of sleep and daytime somnolence in spinocerebellar ataxia type 6 (SCA6). Neurology 2006, 66:1430-1431.
-
(2006)
Neurology
, vol.66
, pp. 1430-1431
-
-
Howell, M.J.1
Mahowald, M.W.2
Gomez, C.M.3
-
39
-
-
0031442152
-
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., et al. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1a 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
-
40
-
-
16944366032
-
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
-
Ishikawa K., Tanaka H., Saito M., et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 1997, 61:336-346.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 336-346
-
-
Ishikawa, K.1
Tanaka, H.2
Saito, M.3
-
41
-
-
0033043538
-
Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)
-
Ishikawa K., Watanabe M., Yoshizawa K., et al. Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6). J Neurol Neurosurg Psychiatry 1999, 67:86-89.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.67
, pp. 86-89
-
-
Ishikawa, K.1
Watanabe, M.2
Yoshizawa, K.3
-
42
-
-
0242289453
-
Recent advances in understanding the pathogenesis of polyglutamine diseases: involvement of molecular chaperones and ubiquitin-proteasome pathway
-
Jana N.R., Nukina N. Recent advances in understanding the pathogenesis of polyglutamine diseases: involvement of molecular chaperones and ubiquitin-proteasome pathway. J Chem Neuroanat 2003, 26:95-101.
-
(2003)
J Chem Neuroanat
, vol.26
, pp. 95-101
-
-
Jana, N.R.1
Nukina, N.2
-
43
-
-
0033153435
-
Calcium channelopathies in the central nervous system
-
Jen J. Calcium channelopathies in the central nervous system. Curr Opin Neurobiol 1999, 9:274-280.
-
(1999)
Curr Opin Neurobiol
, vol.9
, pp. 274-280
-
-
Jen, J.1
-
44
-
-
0031726082
-
Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia
-
Jen J.C., Yue Q., Karrim J., et al. 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
-
45
-
-
24044477921
-
Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families
-
Jiang H., Tang B., Xia K., et al. Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families. J Neurol Sci 2005, 236:25-29.
-
(2005)
J Neurol Sci
, vol.236
, pp. 25-29
-
-
Jiang, H.1
Tang, B.2
Xia, K.3
-
46
-
-
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., et al. 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, 6:1973-1978.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
Mantuano, E.2
Veneziano, L.3
-
47
-
-
0033776246
-
Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia
-
Katayama T., Ogura Y., Aizawa H., et al. Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia. J Neurol 2000, 247:711-712.
-
(2000)
J Neurol
, vol.247
, pp. 711-712
-
-
Katayama, T.1
Ogura, Y.2
Aizawa, H.3
-
48
-
-
45849146955
-
Prefrontal hypoperfusion and cognitive dysfunction correlates in spinocerebellar ataxia type 6
-
Kawai Y., Suenaga M., Watanabe H., et al. Prefrontal hypoperfusion and cognitive dysfunction correlates in spinocerebellar ataxia type 6. J Neurol Sci 2008, 271:68-74.
-
(2008)
J Neurol Sci
, vol.271
, pp. 68-74
-
-
Kawai, Y.1
Suenaga, M.2
Watanabe, H.3
-
49
-
-
0027653062
-
Calcium antagonists in the elderly
-
Kelly J.G., O'Malley K. Calcium antagonists in the elderly. Drugs Aging 1993, 3:400-407.
-
(1993)
Drugs Aging
, vol.3
, pp. 400-407
-
-
Kelly, J.G.1
O'Malley, K.2
-
50
-
-
0034641887
-
Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
-
Kennedy L., Shelbourne P.F. Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?. Hum Mol Genet 2000, 9:2539-2544.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2539-2544
-
-
Kennedy, L.1
Shelbourne, P.F.2
-
51
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement I.A., Skinner P.J., Kaytor M.D., et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998, 95:41-53.
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
Skinner, P.J.2
Kaytor, M.D.3
-
52
-
-
17844392364
-
The pathogenesis of spinocerebellar ataxia
-
Koeppen A.H. The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62-73.
-
(2005)
Cerebellum
, vol.4
, pp. 62-73
-
-
Koeppen, A.H.1
-
53
-
-
33745207300
-
C-termini of P/Q-type Ca2+ channel alpha1a subunits translocate to nuclei and promote polyglutamine-mediated toxicity
-
Kordasiewicz H.B., Thompson R.M., Clark H.B., et al. C-termini of P/Q-type Ca2+ channel alpha1a subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum Mol Genet 2006, 15:1587-1599.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1587-1599
-
-
Kordasiewicz, H.B.1
Thompson, R.M.2
Clark, H.B.3
-
54
-
-
0034988145
-
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine
-
Kors E.E., Terwindt G.M., Vermeulen F.L., et al. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol 2001, 49:753-760.
-
(2001)
Ann Neurol
, vol.49
, pp. 753-760
-
-
Kors, E.E.1
Terwindt, G.M.2
Vermeulen, F.L.3
-
55
-
-
0037464386
-
Proteolytic cleavage and cellular toxicity of the human alpha1a calcium channel in spinocerebellar ataxia type 6
-
Kubodera T., Yokota T., Ohwada K., et al. Proteolytic cleavage and cellular toxicity of the human alpha1a calcium channel in spinocerebellar ataxia type 6. Neurosci Lett 2003, 341:74-78.
-
(2003)
Neurosci Lett
, vol.341
, pp. 74-78
-
-
Kubodera, T.1
Yokota, T.2
Ohwada, K.3
-
56
-
-
0034615832
-
Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach
-
Kumagai R., Kaseda Y., Kawakami H., et al. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach. NeuroReport 2000, 11:969-972.
-
(2000)
NeuroReport
, vol.11
, pp. 969-972
-
-
Kumagai, R.1
Kaseda, Y.2
Kawakami, H.3
-
57
-
-
34248389762
-
Altered soleus responses to magnetic stimulation in pure cerebellar ataxia
-
Kurokawa-Kuroda T., Ogata K., Suga R., et al. Altered soleus responses to magnetic stimulation in pure cerebellar ataxia. Clin Neurophysiol 2007, 118:1198-1203.
-
(2007)
Clin Neurophysiol
, vol.118
, pp. 1198-1203
-
-
Kurokawa-Kuroda, T.1
Ogata, K.2
Suga, R.3
-
58
-
-
0038521282
-
Polyglutamines placed into context
-
La Spada A.R., Taylor J.P. Polyglutamines placed into context. Neuron 2003, 38:681-684.
-
(2003)
Neuron
, vol.38
, pp. 681-684
-
-
La Spada, A.R.1
Taylor, J.P.2
-
59
-
-
0033551361
-
Ca2+/calmodulin binds to and modulates P/Q-type calcium channels
-
Lee A., Wong S.T., Gallagher D., et al. Ca2+/calmodulin binds to and modulates P/Q-type calcium channels. Nature 1999, 399:155-159.
-
(1999)
Nature
, vol.399
, pp. 155-159
-
-
Lee, A.1
Wong, S.T.2
Gallagher, D.3
-
60
-
-
0034664238
-
Ca2+/calmodulin-dependent facilitation and inactivation of P/Q-type Ca2+ channels
-
Lee A., Scheuer T., Catterall W.A. Ca2+/calmodulin-dependent facilitation and inactivation of P/Q-type Ca2+ channels. J Neurosci 2000, 20:6830-6838.
-
(2000)
J Neurosci
, vol.20
, pp. 6830-6838
-
-
Lee, A.1
Scheuer, T.2
Catterall, W.A.3
-
61
-
-
0030810204
-
Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK
-
Leggo J., Dalton A., Morrison P.J., et al. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Med Genet 1997, 34:982-985.
-
(1997)
J Med Genet
, vol.34
, pp. 982-985
-
-
Leggo, J.1
Dalton, A.2
Morrison, P.J.3
-
62
-
-
30944447452
-
Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case
-
Lindquist S.G., Norremolle A., Hjermind L.E., et al. Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case. J Neurol Sci 2006, 241:95-98.
-
(2006)
J Neurol Sci
, vol.241
, pp. 95-98
-
-
Lindquist, S.G.1
Norremolle, A.2
Hjermind, L.E.3
-
63
-
-
0742323776
-
Mechanisms of cell death in polyglutamine expansion diseases
-
Lipinski M.M., Yuan J. Mechanisms of cell death in polyglutamine expansion diseases. Curr Opin Pharmacol 2004, 4:85-90.
-
(2004)
Curr Opin Pharmacol
, vol.4
, pp. 85-90
-
-
Lipinski, M.M.1
Yuan, J.2
-
64
-
-
33749515747
-
Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study
-
Lukas C., Schols L., Bellenberg B., et al. Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study. Neurosci Lett 2006, 408:230-235.
-
(2006)
Neurosci Lett
, vol.408
, pp. 230-235
-
-
Lukas, C.1
Schols, L.2
Bellenberg, B.3
-
65
-
-
17844389364
-
The wide spectrum of spinocerebellar ataxias (SCAs)
-
Manto M.U. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 2005, 4:2-6.
-
(2005)
Cerebellum
, vol.4
, pp. 2-6
-
-
Manto, M.U.1
-
66
-
-
0344962372
-
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders
-
Mantuano E., Veneziano L., Jodice C., et al. Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. Cytogenet Genome Res 2003, 100:147-153.
-
(2003)
Cytogenet Genome Res
, vol.100
, pp. 147-153
-
-
Mantuano, E.1
Veneziano, L.2
Jodice, C.3
-
67
-
-
0035679662
-
Cerebellar/spinocerebellar syndromes
-
Mariotti C., Di Donato S. Cerebellar/spinocerebellar syndromes. Neurol Sci 2001, 22:S88-S92.
-
(2001)
Neurol Sci
, vol.22
-
-
Mariotti, C.1
Di Donato, S.2
-
68
-
-
0035940532
-
Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient
-
Mariotti C., Gellera C., Grisoli M., et al. Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient. Neurology 2001, 57:1502-1504.
-
(2001)
Neurology
, vol.57
, pp. 1502-1504
-
-
Mariotti, C.1
Gellera, C.2
Grisoli, M.3
-
69
-
-
0037043031
-
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1, 286 Japanese patients
-
Maruyama H., Izumi Y., Morino H., et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1, 286 Japanese patients. Am J Med Genet 2002, 114:578-583.
-
(2002)
Am J Med Genet
, vol.114
, pp. 578-583
-
-
Maruyama, H.1
Izumi, Y.2
Morino, H.3
-
70
-
-
30444447681
-
Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes
-
Maschke M., Oehlert G., Xie T.D., et al. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord 2005, 20:1405-1412.
-
(2005)
Mov Disord
, vol.20
, pp. 1405-1412
-
-
Maschke, M.1
Oehlert, G.2
Xie, T.D.3
-
71
-
-
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., et al. 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
-
72
-
-
0037271629
-
Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan
-
Matsumura R., Futamura N., Ando N., et al. Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. Acta Neurol Scand 2003, 107:38-41.
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 38-41
-
-
Matsumura, R.1
Futamura, N.2
Ando, N.3
-
73
-
-
8544255538
-
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)
-
Matsuyama Z., Kawakami H., Maruyama H., et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997, 6:1283-1287.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1283-1287
-
-
Matsuyama, Z.1
Kawakami, H.2
Maruyama, H.3
-
74
-
-
4243341823
-
Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6
-
Matsuyama Z., Wakamori M., Mori Y., et al. Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6. J Neurosci 1999, 19:RC14.
-
(1999)
J Neurosci
, vol.19
-
-
Matsuyama, Z.1
Wakamori, M.2
Mori, Y.3
-
76
-
-
0031149448
-
Calcium channels prove to be a real headache
-
Miller R.J. Calcium channels prove to be a real headache. Trends Neurosci 1997, 20:189-192.
-
(1997)
Trends Neurosci
, vol.20
, pp. 189-192
-
-
Miller, R.J.1
-
77
-
-
0034464792
-
Molecular genetics of migraine headaches: a review
-
Montagna P. Molecular genetics of migraine headaches: a review. Cephalalgia 2000, 20:3-14.
-
(2000)
Cephalalgia
, vol.20
, pp. 3-14
-
-
Montagna, P.1
-
78
-
-
0037014426
-
Protein misfolding, amyloid formation, and neurodegeneration: a critical role for molecular chaperones?
-
Muchowski P.J. Protein misfolding, amyloid formation, and neurodegeneration: a critical role for molecular chaperones?. Neuron 2002, 35:9-12.
-
(2002)
Neuron
, vol.35
, pp. 9-12
-
-
Muchowski, P.J.1
-
79
-
-
0031718453
-
Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6
-
Murata Y., Kawakami H., Yamaguchi S., et al. Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6. Arch Neurol 1998, 55:1348-1352.
-
(1998)
Arch Neurol
, vol.55
, pp. 1348-1352
-
-
Murata, Y.1
Kawakami, H.2
Yamaguchi, S.3
-
80
-
-
0037631378
-
Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity
-
Nucifora F.C., Ellerby L.M., Wellington C.L., et al. Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. J Biol Chem 2003, 278:13047-13055.
-
(2003)
J Biol Chem
, vol.278
, pp. 13047-13055
-
-
Nucifora, F.C.1
Ellerby, L.M.2
Wellington, C.L.3
-
81
-
-
2942731275
-
Pharmacological treatments of cerebellar ataxia
-
Ogawa M. Pharmacological treatments of cerebellar ataxia. Cerebellum 2004, 3:107-111.
-
(2004)
Cerebellum
, vol.3
, pp. 107-111
-
-
Ogawa, M.1
-
82
-
-
0038639032
-
D-cycloserine for the treatment of ataxia in spinocerebellar degeneration
-
Ogawa M., Shigeto H., Yamamoto T., et al. D-cycloserine for the treatment of ataxia in spinocerebellar degeneration. J Neurol Sci 2003, 210:53-56.
-
(2003)
J Neurol Sci
, vol.210
, pp. 53-56
-
-
Ogawa, M.1
Shigeto, H.2
Yamamoto, T.3
-
83
-
-
0042869974
-
Polyglutamine diseases: a transcription disorder?
-
Okazawa H. Polyglutamine diseases: a transcription disorder?. Cell Mol Life Sci 2003, 60:1427-1439.
-
(2003)
Cell Mol Life Sci
, vol.60
, pp. 1427-1439
-
-
Okazawa, H.1
-
84
-
-
16044370232
-
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
-
Ophoff R.A., Terwindt G.M., Vergouwe M.N., et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996, 87:543-552.
-
(1996)
Cell
, vol.87
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
-
85
-
-
17544396152
-
A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group
-
Ophoff R.A., Terwindt G.M., Vergouwe M.N., et al. A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group. Eur J Hum Genet 1996, 4:321-328.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 321-328
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
-
86
-
-
4544244896
-
Symptomatic and disease-modifying therapy for the progressive ataxias
-
Perlman S.L. Symptomatic and disease-modifying therapy for the progressive ataxias. Neurologist 2004, 10:275-289.
-
(2004)
Neurologist
, vol.10
, pp. 275-289
-
-
Perlman, S.L.1
-
87
-
-
0035576276
-
Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6
-
Piedras-Renteria E.S., Watase K., Harata N., et al. Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. J Neurosci 2001, 21:9185-9193.
-
(2001)
J Neurosci
, vol.21
, pp. 9185-9193
-
-
Piedras-Renteria, E.S.1
Watase, K.2
Harata, N.3
-
88
-
-
0036175714
-
Calcium channels and channelopathies of the central nervous system
-
Pietrobon D. Calcium channels and channelopathies of the central nervous system. Mol Neurobiol 2002, 25:31-50.
-
(2002)
Mol Neurobiol
, vol.25
, pp. 31-50
-
-
Pietrobon, D.1
-
89
-
-
0032777834
-
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group
-
Pujana M.A., Corral J., Gratacos M., et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum Genet 1999, 104:516-522.
-
(1999)
Hum Genet
, vol.104
, pp. 516-522
-
-
Pujana, M.A.1
Corral, J.2
Gratacos, M.3
-
90
-
-
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 R.M., Eliet J., et al. 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, 20:6394-6403.
-
(2000)
J Neurosci
, vol.20
, pp. 6394-6403
-
-
Restituito, S.1
Thompson, R.M.2
Eliet, J.3
-
91
-
-
8544235014
-
SCA6 is caused by moderate CAG expansion in the alpha1a-voltage-dependent calcium channel gene
-
Riess O., Schols L., Bottger H., et al. SCA6 is caused by moderate CAG expansion in the alpha1a-voltage-dependent calcium channel gene. Hum Mol Genet 1997, 6:1289-1293.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1289-1293
-
-
Riess, O.1
Schols, L.2
Bottger, H.3
-
92
-
-
3142514201
-
Protein aggregation and neurodegenerative disease
-
Ross C.A., Poirier M.A. Protein aggregation and neurodegenerative disease. Nat Med 2004, 10:S10-S17.
-
(2004)
Nat Med
, vol.10
-
-
Ross, C.A.1
Poirier, M.A.2
-
93
-
-
33746859957
-
Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7
-
Rub U., Brunt E.R., Petrasch-Parwez E., et al. Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7. Neuropathol Appl Neurobiol 2006, 32:635-649.
-
(2006)
Neuropathol Appl Neurobiol
, vol.32
, pp. 635-649
-
-
Rub, U.1
Brunt, E.R.2
Petrasch-Parwez, E.3
-
94
-
-
33846390979
-
Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells
-
Saegusa H., Wakamori M., Matsuda Y., et al. Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells. Mol Cell Neurosci 2007, 34:261-270.
-
(2007)
Mol Cell Neurosci
, vol.34
, pp. 261-270
-
-
Saegusa, H.1
Wakamori, M.2
Matsuda, Y.3
-
95
-
-
27544443983
-
Triple stimulation technique in patients with spinocerebellar ataxia type 6
-
Sakuma K., Adachi Y., Fukuda H., et al. Triple stimulation technique in patients with spinocerebellar ataxia type 6. Clin Neurophysiol 2005, 116:2586-2591.
-
(2005)
Clin Neurophysiol
, vol.116
, pp. 2586-2591
-
-
Sakuma, K.1
Adachi, Y.2
Fukuda, H.3
-
96
-
-
0031883338
-
Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6)
-
Sasaki H., Kojima H., Yabe I., et al. 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
-
97
-
-
0344531062
-
The hereditary spinocerebellar ataxias in Japan
-
Sasaki H., Yabe I., Tashiro K. The hereditary spinocerebellar ataxias in Japan. Cytogenet Genome Res 2003, 100:198-205.
-
(2003)
Cytogenet Genome Res
, vol.100
, pp. 198-205
-
-
Sasaki, H.1
Yabe, I.2
Tashiro, K.3
-
99
-
-
54049124218
-
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms
-
Schmitz-Hubsch T., Coudert M., Bauer P., et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008, 71:982-989.
-
(2008)
Neurology
, vol.71
, pp. 982-989
-
-
Schmitz-Hubsch, T.1
Coudert, M.2
Bauer, P.3
-
100
-
-
0031960474
-
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
-
Schols L., Kruger R., Amoiridis G., et al. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998, 64:67-73.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.64
, pp. 67-73
-
-
Schols, L.1
Kruger, R.2
Amoiridis, G.3
-
101
-
-
65849191782
-
Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings
-
Schols L., Linnemann C., Globas C. Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings. Cerebellum 2008, 7:198-203.
-
(2008)
Cerebellum
, vol.7
, pp. 198-203
-
-
Schols, L.1
Linnemann, C.2
Globas, C.3
-
102
-
-
0036460973
-
Dystonia in spinocerebellar ataxia type 6
-
Sethi K.D., Jankovic J. Dystonia in spinocerebellar ataxia type 6. Mov Disord 2002, 17:150-153.
-
(2002)
Mov Disord
, vol.17
, pp. 150-153
-
-
Sethi, K.D.1
Jankovic, J.2
-
103
-
-
0035310417
-
Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families
-
Shimazaki H., Takiyama Y., Sakoe K., et al. Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families. J Neurol Sci 2001, 185:101-107.
-
(2001)
J Neurol Sci
, vol.185
, pp. 101-107
-
-
Shimazaki, H.1
Takiyama, Y.2
Sakoe, K.3
-
104
-
-
0032569915
-
Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls
-
Shizuka M., Watanabe M., Ikeda Y., et al. Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls. J Neurol Sci 1998, 161:85-87.
-
(1998)
J Neurol Sci
, vol.161
, pp. 85-87
-
-
Shizuka, M.1
Watanabe, M.2
Ikeda, Y.3
-
105
-
-
0034768113
-
Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families
-
Sinke R.J., Ippel E.F., Diepstraten C.M., et al. Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families. Arch Neurol 2001, 58:1839-1844.
-
(2001)
Arch Neurol
, vol.58
, pp. 1839-1844
-
-
Sinke, R.J.1
Ippel, E.F.2
Diepstraten, C.M.3
-
106
-
-
0021343320
-
Delayed deterioration following mild head injury in children
-
Snoek J.W., Minderhoud J.M., Wilmink J.T. Delayed deterioration following mild head injury in children. Brain 1984, 107:15-36.
-
(1984)
Brain
, vol.107
, pp. 15-36
-
-
Snoek, J.W.1
Minderhoud, J.M.2
Wilmink, J.T.3
-
107
-
-
0026870810
-
Ca2+ channels: diversity of form and function
-
Snutch T.P., Reiner P.B. Ca2+ channels: diversity of form and function. Curr Opin Neurobiol 1992, 2:247-253.
-
(1992)
Curr Opin Neurobiol
, vol.2
, pp. 247-253
-
-
Snutch, T.P.1
Reiner, P.B.2
-
108
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
Stevanin G., Durr A., David G., et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997, 49:1243-1246.
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
Durr, A.2
David, G.3
-
109
-
-
0034639294
-
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia
-
Storey E., du Sart D., Shaw J.H., et al. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet 2000, 95:351-357.
-
(2000)
Am J Med Genet
, vol.95
, pp. 351-357
-
-
Storey, E.1
du Sart, D.2
Shaw, J.H.3
-
111
-
-
0033592725
-
P/Q-type calcium channels mediate the activity-dependent feedback of syntaxin-1A
-
Sutton K.G., McRory J.E., Guthrie H., et al. P/Q-type calcium channels mediate the activity-dependent feedback of syntaxin-1A. Nature 1999, 401:800-804.
-
(1999)
Nature
, vol.401
, pp. 800-804
-
-
Sutton, K.G.1
McRory, J.E.2
Guthrie, H.3
-
112
-
-
3042840605
-
A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6
-
Takahashi H., Ishikawa K., Tsutsumi T., et al. A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6. J Hum Genet 2004, 49:256-264.
-
(2004)
J Hum Genet
, vol.49
, pp. 256-264
-
-
Takahashi, H.1
Ishikawa, K.2
Tsutsumi, T.3
-
113
-
-
0037194896
-
Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila
-
Takeyama K., Ito S., Yamamoto A., et al. Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 2002, 35:855-864.
-
(2002)
Neuron
, vol.35
, pp. 855-864
-
-
Takeyama, K.1
Ito, S.2
Yamamoto, A.3
-
114
-
-
0032581184
-
A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene
-
Takiyama Y., Sakoe K., Namekawa M., et al. A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene. J Neurol Sci 1998, 158:141-147.
-
(1998)
J Neurol Sci
, vol.158
, pp. 141-147
-
-
Takiyama, Y.1
Sakoe, K.2
Namekawa, M.3
-
116
-
-
43049183670
-
Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6
-
Teo J.T., Schneider S.A., Cheeran B.J., et al. Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6. Mov Disord 2008, 23:378-385.
-
(2008)
Mov Disord
, vol.23
, pp. 378-385
-
-
Teo, J.T.1
Schneider, S.A.2
Cheeran, B.J.3
-
117
-
-
0030013798
-
Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG
-
Terwindt G.M., Ophoff R.A., Haan J., et al. Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG. Cephalalgia 1996, 16:153-155.
-
(1996)
Cephalalgia
, vol.16
, pp. 153-155
-
-
Terwindt, G.M.1
Ophoff, R.A.2
Haan, J.3
-
118
-
-
0031829409
-
Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group
-
Terwindt G.M., Ophoff R.A., Haan J., et al. Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group. Eur J Hum Genet 1998, 6:297-307.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 297-307
-
-
Terwindt, G.M.1
Ophoff, R.A.2
Haan, J.3
-
119
-
-
0034646650
-
Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function
-
Toru S., Murakoshi T., Ishikawa K., et al. Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. J Biol Chem 2000, 275:10893-10898.
-
(2000)
J Biol Chem
, vol.275
, pp. 10893-10898
-
-
Toru, S.1
Murakoshi, T.2
Ishikawa, K.3
-
120
-
-
20244370356
-
Degeneration of the inferior olive in spinocerebellar ataxia 6 may depend on disease duration: report of two autopsy cases and statistical analysis of autopsy cases reported to date
-
Tsuchiya K., Oda T., Yoshida M., et al. Degeneration of the inferior olive in spinocerebellar ataxia 6 may depend on disease duration: report of two autopsy cases and statistical analysis of autopsy cases reported to date. Neuropathology 2005, 25:125-135.
-
(2005)
Neuropathology
, vol.25
, pp. 125-135
-
-
Tsuchiya, K.1
Oda, T.2
Yoshida, M.3
-
121
-
-
31544457064
-
Clinical applications of transcranial magnetic stimulation for the treatment of various neurological diseases
-
Tsuji S. Clinical applications of transcranial magnetic stimulation for the treatment of various neurological diseases. Rinsho Shinkeigaku 2005, 45:831-833.
-
(2005)
Rinsho Shinkeigaku
, vol.45
, pp. 831-833
-
-
Tsuji, S.1
-
122
-
-
3042550349
-
Distinct intracellular calcium profiles following influx through N- versus L-type calcium channels: role of Ca2+-induced Ca2+ release
-
Tully K., Treistman S.N. Distinct intracellular calcium profiles following influx through N- versus L-type calcium channels: role of Ca2+-induced Ca2+ release. J Neurophysiol 2004, 92:135-143.
-
(2004)
J Neurophysiol
, vol.92
, pp. 135-143
-
-
Tully, K.1
Treistman, S.N.2
-
123
-
-
0037066111
-
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis
-
van de Warrenburg B.P., Sinke R.J., Verschuuren-Bemelmans C.C., et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 2002, 58:702-708.
-
(2002)
Neurology
, vol.58
, pp. 702-708
-
-
van de Warrenburg, B.P.1
Sinke, R.J.2
Verschuuren-Bemelmans, C.C.3
-
124
-
-
16344388976
-
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort
-
van de Warrenburg B.P., Hendriks H., Durr A., et al. Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol 2005, 57:505-512.
-
(2005)
Ann Neurol
, vol.57
, pp. 505-512
-
-
van de Warrenburg, B.P.1
Hendriks, H.2
Durr, A.3
-
125
-
-
34547670506
-
Regional patterns of cerebral glucose metabolism in spinocerebellar ataxia type 2, 3 and 6: a voxel-based FDG-positron emission tomography analysis
-
Wang P.S., Liu R.S., Yang B.H., et al. Regional patterns of cerebral glucose metabolism in spinocerebellar ataxia type 2, 3 and 6: a voxel-based FDG-positron emission tomography analysis. J Neurol 2007, 254:838-845.
-
(2007)
J Neurol
, vol.254
, pp. 838-845
-
-
Wang, P.S.1
Liu, R.S.2
Yang, B.H.3
-
126
-
-
50149093030
-
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant cav2.1 channels
-
Watase K., Barrett C.F., Miyazaki T., et al. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant cav2.1 channels. Proc Natl Acad Sci U S A 2008, 105:11987-11992.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 11987-11992
-
-
Watase, K.1
Barrett, C.F.2
Miyazaki, T.3
-
127
-
-
0028827658
-
Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels
-
Westenbroek R.E., Sakurai T., Elliott E.M., et al. Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels. J Neurosci 1995, 15:6403-6418.
-
(1995)
J Neurosci
, vol.15
, pp. 6403-6418
-
-
Westenbroek, R.E.1
Sakurai, T.2
Elliott, E.M.3
-
128
-
-
23844432617
-
Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6
-
Wullner U., Reimold M., Abele M., et al. Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6. Arch Neurol 2005, 62:1280-1285.
-
(2005)
Arch Neurol
, vol.62
, pp. 1280-1285
-
-
Wullner, U.1
Reimold, M.2
Abele, M.3
-
129
-
-
0031771347
-
Periodic alternating nystagmus in spinocerebellar ataxia type 6 (SCA 6)
-
Yabe I., Sasaki H., Yamashita I., et al. Periodic alternating nystagmus in spinocerebellar ataxia type 6 (SCA 6). Rinsho Shinkeigaku 1998, 38:512-515.
-
(1998)
Rinsho Shinkeigaku
, vol.38
, pp. 512-515
-
-
Yabe, I.1
Sasaki, H.2
Yamashita, I.3
-
130
-
-
0033944931
-
Morphological Purkinje cell changes in spinocerebellar ataxia type 6
-
Yang Q., Hashizume Y., Yoshida M., et al. Morphological Purkinje cell changes in spinocerebellar ataxia type 6. Acta Neuropathol (Berl) 2000, 100:371-376.
-
(2000)
Acta Neuropathol (Berl)
, vol.100
, pp. 371-376
-
-
Yang, Q.1
Hashizume, Y.2
Yoshida, M.3
-
131
-
-
22144466522
-
Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6
-
Ying S.H., Choi S.I., Lee M., et al. Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6. Ann N Y Acad Sci 2005, 1039:430-435.
-
(2005)
Ann N Y Acad Sci
, vol.1039
, pp. 430-435
-
-
Ying, S.H.1
Choi, S.I.2
Lee, M.3
-
132
-
-
0030776159
-
Progressive ataxia due to a missense mutation in a calcium-channel gene
-
Yue Q., Jen J.C., Nelson S.F., et al. Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 1997, 61:1078-1087.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1078-1087
-
-
Yue, Q.1
Jen, J.C.2
Nelson, S.F.3
-
133
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko O., Bailey J., Bonnen P., et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 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
-
134
-
-
0031278715
-
CAG repeats in SCA6. Anticipating new clues
-
Zoghbi H.Y. CAG repeats in SCA6. Anticipating new clues. Neurology 1997, 49:1196-1199.
-
(1997)
Neurology
, vol.49
, pp. 1196-1199
-
-
Zoghbi, H.Y.1
|