-
1
-
-
33746873251
-
Stiff man-like syndrome and generalized myokymia in spinocerebellar ataxia type 3
-
DOI 10.1002/mds.20865
-
Berciano J, Infante J, García A, de Pablos C, Amer G, Polo J, Volpini V, Combarros O. 2006. Stiff man-like syndrome and generalized myokymia in spinocerebellar ataxia type 3. Mov Disord 21(7):1031-1035. (Pubitemid 44184609)
-
(2006)
Movement Disorders
, vol.21
, Issue.7
, pp. 1031-1035
-
-
Berciano, J.1
Infante, J.2
Garcia, A.3
De Pablos, C.4
Amer, G.5
Polo, J.M.6
Vopini, V.7
Combarros, O.8
-
2
-
-
66649112785
-
Familial dyskinesia and facial myokymia
-
Bird TD. 2002. Familial dyskinesia and facial myokymia. Mov Disord 17:747.
-
(2002)
Mov Disord
, vol.17
, pp. 747
-
-
Bird, T.D.1
-
3
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
DOI 10.1038/ng1094-136
-
Browne D, Gancher S, Nutt J, Brunt E, Smith E, Kramer P, Litt M. 1994. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 8:136-140. (Pubitemid 24308360)
-
(1994)
Nature Genetics
, vol.8
, Issue.2
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
Brunt, E.R.P.4
Smith, E.A.5
Kramer, P.6
Litt, M.7
-
4
-
-
0025006108
-
Familial paroxysmal kinesigenic ataxia and continuous myokymia
-
Brunt E, van Weerden T. 1990. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 113(Pt5): 1361-1382. (Pubitemid 20385918)
-
(1990)
Brain
, vol.113
, Issue.5
, pp. 1361-1382
-
-
Brunt, E.R.P.1
Van Weerden, T.W.2
-
5
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
-
Cancel G, Durr A, Didierjean O, Imbert G, Burk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimaraes J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A. 1997. Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families. Hum Mol Genet 6(5):709-715. (Pubitemid 27199064)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.5
, pp. 709-715
-
-
Cancel, G.1
Durr, A.2
Didierjean, O.3
Imbert, G.4
Burk, K.5
Lezin, A.6
Belal, S.7
Benomar, A.8
Abada-Bendib, M.9
Vial, C.10
Guimaraes, J.11
Chneiweiss, H.12
Stevanin, G.13
Yvert, G.14
Abbas, N.15
Saudou, F.16
Lebre, A.-S.17
Yahyaoui, M.18
Hentati, F.19
Vernant, J.-C.20
Klockgether, T.21
Mandel, J.-L.22
Agid, Y.23
Brice, A.24
more..
-
6
-
-
33847666125
-
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
-
DOI 10.1007/s10048-006-0071-z
-
Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. 2007. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics 8(2):131-135. (Pubitemid 46356244)
-
(2007)
Neurogenetics
, vol.8
, Issue.2
, pp. 131-135
-
-
Chen, H.1
Von Hehn, C.2
Kaczmarek, L.K.3
Ment, L.R.4
Pober, B.R.5
Hisama, F.M.6
-
7
-
-
0037386988
-
M-channels: Neurological diseases, neuromodulation, and drug development
-
DOI 10.1001/archneur.60.4.496
-
Cooper EC, Jan LY. 2003. M-channels: Neurological diseases, neuromodulation, and drug development. Arch Neurol 60(4):496-500. (Pubitemid 36427962)
-
(2003)
Archives of Neurology
, vol.60
, Issue.4
, pp. 496-500
-
-
Cooper, E.C.1
Jan, L.Y.2
-
8
-
-
0035834007
-
+ channel
-
DOI 10.1073/pnas.211431298
-
Dedek K, Kunath B, Kananura C, Reuner U, Jentsch T, Steinlein O. 2001. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci USA 98(21):12272-12277. (Pubitemid 32959863)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.21
, pp. 12272-12277
-
-
Dedek, K.1
Kunath, B.2
Kananura, C.3
Reuner, U.4
Jentsch, T.J.5
Steinlein, O.K.6
-
9
-
-
33845868197
-
Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE
-
DOI 10.1093/bioinformatics/btl539
-
Dietter J, Mattheisen M, Furst R, Ruschendorf F, Wienker TF, Strauch K. 2007. Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE. Bioinformatics 23(1):64-70. (Pubitemid 46017857)
-
(2007)
Bioinformatics
, vol.23
, Issue.1
, pp. 64-70
-
-
Dietter, J.1
Mattheisen, M.2
Furst, R.3
Ruschendorf, F.4
Wienker, T.F.5
Strauch, K.6
-
10
-
-
0033910736
-
Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
-
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. 2000. Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 66:1531-1539.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1531-1539
-
-
Escayg, A.1
De Waard, M.2
Lee, D.D.3
Bichet, D.4
Wolf, P.5
Mayer, T.6
Johnston, J.7
Baloh, R.8
Sander, T.9
Meisler, M.H.10
-
11
-
-
0035074056
-
Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder
-
DOI 10.1002/ana.98
-
Fernandez M, Raskind W, Wolff J, Matsushita M, Yuen E, Graf W, Lipe H, Bird T. 2001. Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder. Ann Neurol 49(4):486-492. (Pubitemid 32281332)
-
(2001)
Annals of Neurology
, vol.49
, Issue.4
, pp. 486-492
-
-
Fernandez, M.1
Raskind, W.2
Wolff, J.3
Matsushita, M.4
Yuen, E.5
Graf, W.6
Lipe, H.7
Bird, T.8
-
12
-
-
0035819566
-
Cloning a calcium channel alpha2delta-3 subunit gene from a putative tumor suppressor gene region at chromosome 3p21.1 in conventional renal cell carcinoma
-
DOI 10.1016/S0378-1119(00)00600-4, PII S0378111900006004
-
Hanke S, Bugert P, Chudek J, Kovacs G. 2001. Cloning a calcium channel alpha2delta-3 subunit gene from a putative tumor suppressor gene region at chromosome 3p21.1 in conventional renal cell carcinoma. Gene 264(1):69-75. (Pubitemid 32195489)
-
(2001)
Gene
, vol.264
, Issue.1
, pp. 69-75
-
-
Hanke, S.1
Bugert, P.2
Chudek, J.3
Kovacs, G.4
-
13
-
-
23844500344
-
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
-
DOI 10.1212/01.WNL.0000172638.58172.5a
-
Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. 2005. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 65(4):529-534. (Pubitemid 41170710)
-
(2005)
Neurology
, vol.65
, Issue.4
, pp. 529-534
-
-
Jen, J.C.1
Wan, J.2
Palos, T.P.3
Howard, B.D.4
Baloh, R.W.5
-
14
-
-
34848869371
-
Primary episodic ataxias: Diagnosis, pathogenesis and treatment
-
investigators
-
Jen J, Graves T, Hess E, Hanna M, Griggs R, Baloh R, investigators. 2007. Primary episodic ataxias: Diagnosis, pathogenesis and treatment. Brain 130(10):2484-2493.
-
(2007)
Brain
, vol.130
, Issue.10
, pp. 2484-2493
-
-
Jen, J.1
Graves, T.2
Hess, E.3
Hanna, M.4
Griggs, R.5
Baloh, R.6
-
15
-
-
34248995041
-
A new episodic ataxia syndrome with linkage to chromosome 19q13
-
DOI 10.1001/archneur.64.5.749
-
Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. 2007. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol 64(5):749-752. (Pubitemid 46789844)
-
(2007)
Archives of Neurology
, vol.64
, Issue.5
, pp. 749-752
-
-
Kerber, K.A.1
Jen, J.C.2
Lee, H.3
Nelson, S.F.4
Baloh, R.W.5
-
16
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. 1996. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58(6):1347-1363. (Pubitemid 26153846)
-
(1996)
American Journal of Human Genetics
, vol.58
, Issue.6
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
17
-
-
66649088032
-
Aprotein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
-
Lim J, Hao T, Shaw C, Patel A, Szabó G, Rual J, Fisk C, Li N, Smolyar A, Hill D, Barabási AL, Vidal M, Zoghbi HY. 2006.Aprotein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 127(7):1335-1347.
-
(2006)
Cell
, vol.127
, Issue.7
, pp. 1335-1347
-
-
Lim, J.1
Hao, T.2
Shaw, C.3
Patel, A.4
Szabó, G.5
Rual, J.6
Fisk, C.7
Li, N.8
Smolyar, A.9
Hill, D.10
Barabási, A.L.11
Vidal, M.12
Zoghbi, H.Y.13
-
19
-
-
3142721995
-
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
-
DOI 10.1001/archneur.61.7.1025
-
Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK. 2004. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 61(7):1025-1029. (Pubitemid 38915943)
-
(2004)
Archives of Neurology
, vol.61
, Issue.7
, pp. 1025-1029
-
-
Rainier, S.1
Thomas, D.2
Tokarz, D.3
Ming, L.4
Bui, M.5
Plein, E.6
Zhao, X.7
Lemons, R.8
Albin, R.9
Delaney, C.10
Alvarado, D.11
Fink, J.K.12
-
20
-
-
21844460777
-
A genome scan in multigenerational families with dyslexia: Identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency
-
DOI 10.1038/sj.mp.4001657
-
Raskind WH, Igo RP, Chapman NH, Berninger VW, Thomson JB, Matsushita M, Brkanac Z, Holzman T, Brown M, Wijsman EM. 2005. Agenome scan in multigenerational families with dyslexia: Identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency. Mol Psych 10(7):699-711. (Pubitemid 40961740)
-
(2005)
Molecular Psychiatry
, vol.10
, Issue.7
, pp. 699-711
-
-
Raskind, W.H.1
Igo Jr., R.P.2
Chapman, N.H.3
Berninger, V.W.4
Thomson, J.B.5
Matsushita, M.6
Brkanac, Z.7
Holzman, T.8
Brown, M.9
Wijsman, E.M.10
-
22
-
-
4043178555
-
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
-
DOI 10.1001/archneur.61.8.1242
-
Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. 2004. Mutation in the catalytic domain of protein kinase Cgamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 61(8):1242-1248. (Pubitemid 39062678)
-
(2004)
Archives of Neurology
, vol.61
, Issue.8
, pp. 1242-1248
-
-
Stevanin, G.1
Hahn, V.2
Lohmann, E.3
Bouslam, N.4
Gouttard, M.5
Soumphonphakdy, C.6
Welter, M.-L.7
Ollagnon-Roman, E.8
Lemainque, A.9
Ruberg, M.10
Brice, A.11
Durr, A.12
-
23
-
-
33947546576
-
Episodic Ataxia Type 2
-
DOI 10.1016/j.nurt.2007.01.014, PII S1933721307000165
-
Strupp M, Zwergal A, Brandt T. 2007. Episodic ataxia type 2. Neurotherapeutics 4(2):267-273. (Pubitemid 46467550)
-
(2007)
Neurotherapeutics
, vol.4
, Issue.2
, pp. 267-273
-
-
Strupp, M.1
Zwergal, A.2
Brandt, T.3
-
24
-
-
34447522241
-
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
-
DOI 10.1002/ana.21121
-
Van Bogaert P, Azizieh R, Désir J, Aeby A, De Meirleir L, Laes J, Christiaens F, Abramowicz M.2007. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol 61(6):579-586. (Pubitemid 47068140)
-
(2007)
Annals of Neurology
, vol.61
, Issue.6
, pp. 579-586
-
-
Van Bogaert, P.1
Azizieh, R.2
Desir, J.3
Aeby, A.4
De Meirleir, L.5
Laes, J.-F.6
Christiaens, F.7
Abramowicz, M.J.8
-
25
-
-
0000801438
-
SLINK: A general simulation program for linkage analysis
-
abstract
-
Weeks D, Ott J, Lathrop G. 1990. SLINK: A general simulation program for linkage analysis. Am J Hum Genet 47:A204 (abstract).
-
(1990)
Am J Hum Genet
, vol.47
-
-
Weeks, D.1
Ott, J.2
Lathrop, G.3
|