-
1
-
-
0036338150
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
-
Abecasis G.R., Cherny S.S., Cookson W.O., and Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30 (2002) 97-101
-
(2002)
Nat. Genet.
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
2
-
-
0035882271
-
Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells
-
Barclay J., Balaguero N., Mione M., Ackerman S.L., Letts V.A., Brodbeck J., Canti C., Meir A., Page K.M., Kusumi K., Perez-Reyes E., Lander E.S., Frankel W.N., Gardiner R.M., Dolphin A.C., and Rees M. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J. Neurosci. 21 (2001) 6095-6104
-
(2001)
J. Neurosci.
, vol.21
, pp. 6095-6104
-
-
Barclay, J.1
Balaguero, N.2
Mione, M.3
Ackerman, S.L.4
Letts, V.A.5
Brodbeck, J.6
Canti, C.7
Meir, A.8
Page, K.M.9
Kusumi, K.10
Perez-Reyes, E.11
Lander, E.S.12
Frankel, W.N.13
Gardiner, R.M.14
Dolphin, A.C.15
Rees, M.16
-
3
-
-
13444269543
-
Haploview: analysis and visualization of LD and haplotype maps
-
Barrett J.C., Fry B., Maller J., and Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2005) 263-265
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
-
4
-
-
0023272497
-
Concepts of absence epilepsies: discrete syndromes or biological continuum?
-
Berkovic S.F., Andermann F., Andermann E., and Gloor P. Concepts of absence epilepsies: discrete syndromes or biological continuum?. Neurology 37 (1987) 993-1000
-
(1987)
Neurology
, vol.37
, pp. 993-1000
-
-
Berkovic, S.F.1
Andermann, F.2
Andermann, E.3
Gloor, P.4
-
5
-
-
0031748082
-
Epilepsies in twins: genetics of the major epilepsy syndromes
-
Berkovic S.F., Howell R.A., Hay D.A., and Hopper J.L. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann. Neurol. 43 (1998) 435-445
-
(1998)
Ann. Neurol.
, vol.43
, pp. 435-445
-
-
Berkovic, S.F.1
Howell, R.A.2
Hay, D.A.3
Hopper, J.L.4
-
6
-
-
0030614535
-
2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
-
2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 88 (1997) 385-392
-
(1997)
Cell
, vol.88
, pp. 385-392
-
-
Burgess, D.L.1
Jones, J.M.2
Meisler, M.H.3
Noebels, J.L.4
-
7
-
-
0041343159
-
Association between genetic variation of CACNA1H and childhood absence epilepsy
-
Chen Y., Lu J., Pan H., Zhang Y., Wu H., Xu K., Liu X., Jiang Y., Bao X., Yao Z., Ding K., Lo W.H., Qiang B., Chan P., Shen Y., and Wu X. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann. Neurol. 54 (2003) 239-243
-
(2003)
Ann. Neurol.
, vol.54
, pp. 239-243
-
-
Chen, Y.1
Lu, J.2
Pan, H.3
Zhang, Y.4
Wu, H.5
Xu, K.6
Liu, X.7
Jiang, Y.8
Bao, X.9
Yao, Z.10
Ding, K.11
Lo, W.H.12
Qiang, B.13
Chan, P.14
Shen, Y.15
Wu, X.16
-
8
-
-
0035826838
-
Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy
-
Chioza B., Wilkie H., Nashef L., Blower J., McCormick D., Sham P., Asherson P., and Makoff A.J. Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 56 (2001) 1245-1246
-
(2001)
Neurology
, vol.56
, pp. 1245-1246
-
-
Chioza, B.1
Wilkie, H.2
Nashef, L.3
Blower, J.4
McCormick, D.5
Sham, P.6
Asherson, P.7
Makoff, A.J.8
-
9
-
-
57149136761
-
A common intronic variant of CXCR3 is functionally associated with gene expression levels and the polymorphic immune cell responses to stimuli
-
Choi J.W., Park C.S., Hwang M., Nam H.Y., Chang H.S., Park S.G., Han B.G., Kimm K., Kim H.L., Oh B., and Kim Y. A common intronic variant of CXCR3 is functionally associated with gene expression levels and the polymorphic immune cell responses to stimuli. J. Allergy Clin. Immunol. 122 (2008) 1119-1126
-
(2008)
J. Allergy Clin. Immunol.
, vol.122
, pp. 1119-1126
-
-
Choi, J.W.1
Park, C.S.2
Hwang, M.3
Nam, H.Y.4
Chang, H.S.5
Park, S.G.6
Han, B.G.7
Kimm, K.8
Kim, H.L.9
Oh, B.10
Kim, Y.11
-
10
-
-
27644439141
-
Efficiency and power in genetic association studies
-
de Bakker P.I., Yelensky R., Pe'er I., Gabriel S.B., Daly M.J., and Altshuler D. Efficiency and power in genetic association studies. Nat. Genet. 37 (2005) 1217-1223
-
(2005)
Nat. Genet.
, vol.37
, pp. 1217-1223
-
-
de Bakker, P.I.1
Yelensky, R.2
Pe'er, I.3
Gabriel, S.B.4
Daly, M.J.5
Altshuler, D.6
-
11
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology
-
Engel Jr. J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 42 (2001) 796-803
-
(2001)
Epilepsia
, vol.42
, pp. 796-803
-
-
Engel Jr., J.1
-
12
-
-
4544335122
-
Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps
-
Evans D.M., and Cardon L.R. Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps. Am. J. Hum. Genet. 75 (2004) 687-692
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 687-692
-
-
Evans, D.M.1
Cardon, L.R.2
-
13
-
-
33947634518
-
Linkage and association analysis of CACNG3 in childhood absence epilepsy
-
Everett K.V., Chioza B., Aicardi J., Aschauer H., Brouwer O., Callenbach P., Covanis A., Dulac O., Eeg-Olofsson O., Feucht M., Friis M., Goutieres F., Guerrini R., Heils A., Kjeldsen M., Lehesjoki A.E., Makoff A., Nabbout R., Olsson I., Sander T., Siren A., McKeigue P., Robinson R., Taske N., Rees M., and Gardiner M. Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur. J. Hum. Genet. 15 (2007) 463-472
-
(2007)
Eur. J. Hum. Genet.
, vol.15
, pp. 463-472
-
-
Everett, K.V.1
Chioza, B.2
Aicardi, J.3
Aschauer, H.4
Brouwer, O.5
Callenbach, P.6
Covanis, A.7
Dulac, O.8
Eeg-Olofsson, O.9
Feucht, M.10
Friis, M.11
Goutieres, F.12
Guerrini, R.13
Heils, A.14
Kjeldsen, M.15
Lehesjoki, A.E.16
Makoff, A.17
Nabbout, R.18
Olsson, I.19
Sander, T.20
Siren, A.21
McKeigue, P.22
Robinson, R.23
Taske, N.24
Rees, M.25
Gardiner, M.26
more..
-
14
-
-
14844323722
-
Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors
-
Farrant M., and Nusser Z. Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors. Nat. Rev. Neurosci. 6 (2005) 215-229
-
(2005)
Nat. Rev. Neurosci.
, vol.6
, pp. 215-229
-
-
Farrant, M.1
Nusser, Z.2
-
15
-
-
0032849405
-
Possible association between childhood absence epilepsy and the gene encoding GABRB3
-
Feucht M., Fuchs K., Pichlbauer E., Hornik K., Scharfetter J., Goessler R., Fureder T., Cvetkovic N., Sieghart W., Kasper S., and Aschauer H. Possible association between childhood absence epilepsy and the gene encoding GABRB3. Biol. Psychiatry 46 (1999) 997-1002
-
(1999)
Biol. Psychiatry
, vol.46
, pp. 997-1002
-
-
Feucht, M.1
Fuchs, K.2
Pichlbauer, E.3
Hornik, K.4
Scharfetter, J.5
Goessler, R.6
Fureder, T.7
Cvetkovic, N.8
Sieghart, W.9
Kasper, S.10
Aschauer, H.11
-
16
-
-
0030584085
-
Absence epilepsy in tottering mutant mice is associated with calcium channel defects
-
Fletcher C.F., Lutz C.M., O'Sullivan T.N., Shaughnessy Jr. J.D., Hawkes R., Frankel W.N., Copeland N.G., and Jenkins N.A. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87 (1996) 607-617
-
(1996)
Cell
, vol.87
, pp. 607-617
-
-
Fletcher, C.F.1
Lutz, C.M.2
O'Sullivan, T.N.3
Shaughnessy Jr., J.D.4
Hawkes, R.5
Frankel, W.N.6
Copeland, N.G.7
Jenkins, N.A.8
-
17
-
-
0032231907
-
Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24
-
Fong G.C., Shah P.U., Gee M.N., Serratosa J.M., Castroviejo I.P., Khan S., Ravat S.H., Mani J., Huang Y., Zhao H.Z., Medina M.T., Treiman L.J., Pineda G., and Delgado-Escueta A.V. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am. J. Hum. Genet. 63 (1998) 1117-1129
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1117-1129
-
-
Fong, G.C.1
Shah, P.U.2
Gee, M.N.3
Serratosa, J.M.4
Castroviejo, I.P.5
Khan, S.6
Ravat, S.H.7
Mani, J.8
Huang, Y.9
Zhao, H.Z.10
Medina, M.T.11
Treiman, L.J.12
Pineda, G.13
Delgado-Escueta, A.V.14
-
18
-
-
31744447625
-
Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice
-
Gilbert S.L., Zhang L., Forster M.L., Anderson J.R., Iwase T., Soliven B., Donahue L.R., Sweet H.O., Bronson R.T., Davisson M.T., Wollmann R.L., and Lahn B.T. Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. Nat. Genet. 38 (2006) 245-250
-
(2006)
Nat. Genet.
, vol.38
, pp. 245-250
-
-
Gilbert, S.L.1
Zhang, L.2
Forster, M.L.3
Anderson, J.R.4
Iwase, T.5
Soliven, B.6
Donahue, L.R.7
Sweet, H.O.8
Bronson, R.T.9
Davisson, M.T.10
Wollmann, R.L.11
Lahn, B.T.12
-
19
-
-
24144493144
-
easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data
-
Hoffmann K., and Lindner T.H. easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data. Bioinformatics 21 (2005) 3565-3567
-
(2005)
Bioinformatics
, vol.21
, pp. 3565-3567
-
-
Hoffmann, K.1
Lindner, T.H.2
-
20
-
-
0037648473
-
Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase
-
Iyer S.P., Akimoto Y., and Hart G.W. Identification and cloning of a novel family of coiled-coil domain proteins that interact with O-GlcNAc transferase. J. Biol. Chem. 278 (2003) 5399-5409
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 5399-5409
-
-
Iyer, S.P.1
Akimoto, Y.2
Hart, G.W.3
-
21
-
-
3042548992
-
Whole-genome scan, in a complex disease, using 11 245 single-nucleotide polymorphisms: comparison with microsatellites
-
John S., Shephard N., Liu G., Zeggini E., Cao M., Chen W., Vasavda N., Mills T., Barton A., Hinks A., Eyre S., Jones K.W., Ollier W., Silman A., Gibson N., Worthington J., and Kennedy G.C. Whole-genome scan, in a complex disease, using 11 245 single-nucleotide polymorphisms: comparison with microsatellites. Am. J. Hum. Genet. 75 (2004) 54-64
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 54-64
-
-
John, S.1
Shephard, N.2
Liu, G.3
Zeggini, E.4
Cao, M.5
Chen, W.6
Vasavda, N.7
Mills, T.8
Barton, A.9
Hinks, A.10
Eyre, S.11
Jones, K.W.12
Ollier, W.13
Silman, A.14
Gibson, N.15
Worthington, J.16
Kennedy, G.C.17
-
22
-
-
33644773647
-
Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2
-
Kearney J.A., Yang Y., Beyer B., Bergren S.K., Claes L., Dejonghe P., and Frankel W.N. Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. Hum. Mol. Genet. 15 (2006) 1043-1048
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1043-1048
-
-
Kearney, J.A.1
Yang, Y.2
Beyer, B.3
Bergren, S.K.4
Claes, L.5
Dejonghe, P.6
Frankel, W.N.7
-
23
-
-
0042932513
-
Epileptic seizures and syndromes in twins: the importance of genetic factors
-
Kjeldsen M.J., Corey L.A., Christensen K., and Friis M.L. Epileptic seizures and syndromes in twins: the importance of genetic factors. Epilepsy Res. 55 (2003) 137-146
-
(2003)
Epilepsy Res.
, vol.55
, pp. 137-146
-
-
Kjeldsen, M.J.1
Corey, L.A.2
Christensen, K.3
Friis, M.L.4
-
24
-
-
0030728925
-
Allele-sharing models: LOD scores and accurate linkage tests
-
Kong A., and Cox N.J. Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet. 61 (1997) 1179-1188
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1179-1188
-
-
Kong, A.1
Cox, N.J.2
-
25
-
-
0028877463
-
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
-
Lander E., and Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11 (1995) 241-247
-
(1995)
Nat. Genet.
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
26
-
-
27544439643
-
Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants
-
Lawrence R., Evans D.M., Morris A.P., Ke X., Hunt S., Paolucci M., Ragoussis J., Deloukas P., Bentley D., and Cardon L.R. Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants. Genome Res. 15 (2005) 1503-1510
-
(2005)
Genome Res.
, vol.15
, pp. 1503-1510
-
-
Lawrence, R.1
Evans, D.M.2
Morris, A.P.3
Ke, X.4
Hunt, S.5
Paolucci, M.6
Ragoussis, J.7
Deloukas, P.8
Bentley, D.9
Cardon, L.R.10
-
27
-
-
17344365408
-
2+-channel gamma subunit
-
2+-channel gamma subunit. Nat. Genet. 19 (1998) 340-347
-
(1998)
Nat. Genet.
, vol.19
, pp. 340-347
-
-
Letts, V.A.1
Felix, R.2
Biddlecome, G.H.3
Arikkath, J.4
Mahaffey, C.L.5
Valenzuela, A.6
Bartlett, F.S.7
Mori, Y.8
Campbell, K.P.9
Frankel, W.N.10
-
28
-
-
33744811658
-
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy
-
Maljevic S., Krampfl K., Cobilanschi J., Tilgen N., Beyer S., Weber Y.G., Schlesinger F., Ursu D., Melzer W., Cossette P., Bufler J., Lerche H., and Heils A. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann. Neurol. 59 (2006) 983-987
-
(2006)
Ann. Neurol.
, vol.59
, pp. 983-987
-
-
Maljevic, S.1
Krampfl, K.2
Cobilanschi, J.3
Tilgen, N.4
Beyer, S.5
Weber, Y.G.6
Schlesinger, F.7
Ursu, D.8
Melzer, W.9
Cossette, P.10
Bufler, J.11
Lerche, H.12
Heils, A.13
-
29
-
-
2342484456
-
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families
-
Marini C., Scheffer I.E., Crossland K.M., Grinton B.E., Phillips F.L., McMahon J.M., Turner S.J., Dean J.T., Kivity S., Mazarib A., Neufeld M.Y., Korczyn A.D., Harkin L.A., Dibbens L.M., Wallace R.H., Mulley J.C., and Berkovic S.F. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia 45 (2004) 467-478
-
(2004)
Epilepsia
, vol.45
, pp. 467-478
-
-
Marini, C.1
Scheffer, I.E.2
Crossland, K.M.3
Grinton, B.E.4
Phillips, F.L.5
McMahon, J.M.6
Turner, S.J.7
Dean, J.T.8
Kivity, S.9
Mazarib, A.10
Neufeld, M.Y.11
Korczyn, A.D.12
Harkin, L.A.13
Dibbens, L.M.14
Wallace, R.H.15
Mulley, J.C.16
Berkovic, S.F.17
-
30
-
-
0142094699
-
Genotype-based association test for general pedigrees: the genotype-PDT
-
Martin E.R., Bass M.P., Gilbert J.R., Pericak-Vance M.A., and Hauser E.R. Genotype-based association test for general pedigrees: the genotype-PDT. Genet. Epidemiol. 25 (2003) 203-213
-
(2003)
Genet. Epidemiol.
, vol.25
, pp. 203-213
-
-
Martin, E.R.1
Bass, M.P.2
Gilbert, J.R.3
Pericak-Vance, M.A.4
Hauser, E.R.5
-
31
-
-
0035076031
-
Correcting for a potential bias in the pedigree disequilibrium test
-
Martin E.R., Bass M.P., and Kaplan N.L. Correcting for a potential bias in the pedigree disequilibrium test. Am. J. Hum. Genet. 68 (2001) 1065-1067
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1065-1067
-
-
Martin, E.R.1
Bass, M.P.2
Kaplan, N.L.3
-
32
-
-
0033910787
-
A test for linkage and association in general pedigrees: the pedigree disequilibrium test
-
Martin E.R., Monks S.A., Warren L.L., and Kaplan N.L. A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am. J. Hum. Genet. 67 (2000) 146-154
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 146-154
-
-
Martin, E.R.1
Monks, S.A.2
Warren, L.L.3
Kaplan, N.L.4
-
33
-
-
4344707812
-
Diversity of inhibitory neurotransmission through GABA(A) receptors
-
Mody I., and Pearce R.A. Diversity of inhibitory neurotransmission through GABA(A) receptors. Trends Neurosci. 27 (2004) 569-575
-
(2004)
Trends Neurosci.
, vol.27
, pp. 569-575
-
-
Mody, I.1
Pearce, R.A.2
-
34
-
-
0025019555
-
Linkage strategies for genetically complex traits. I. Multilocus models
-
Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am. J. Hum. Genet. 46 (1990) 222-228
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 222-228
-
-
Risch, N.1
-
35
-
-
18344384217
-
Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q
-
Robinson R., Taske N., Sander T., Heils A., Whitehouse W., Goutieres F., Aicardi J., Lehesjoki A.E., Siren A., Laue F.M., Kjeldsen M.J., Panayiotopoulos C., Kennedy C., Ferrie C., Rees M., and Gardiner R.M. Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. Epilepsy Res. 48 (2002) 169-179
-
(2002)
Epilepsy Res.
, vol.48
, pp. 169-179
-
-
Robinson, R.1
Taske, N.2
Sander, T.3
Heils, A.4
Whitehouse, W.5
Goutieres, F.6
Aicardi, J.7
Lehesjoki, A.E.8
Siren, A.9
Laue, F.M.10
Kjeldsen, M.J.11
Panayiotopoulos, C.12
Kennedy, C.13
Ferrie, C.14
Rees, M.15
Gardiner, R.M.16
-
36
-
-
18544394906
-
Genome search for susceptibility loci of common idiopathic generalised epilepsies
-
Sander T., Schulz H., Saar K., Gennaro E., Riggio M.C., Bianchi A., Zara F., Luna D., Bulteau C., Kaminska A., Ville D., Cieuta C., Picard F., Prud'homme J.F., Bate L., Sundquist A., Gardiner R.M., Janssen G.A., de Haan G.J., Kasteleijn-Nolst-Trenite D.G., Bader A., Lindhout D., Riess O., Wienker T.F., Janz D., and Reis A. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum. Mol. Genet. 9 (2000) 1465-1472
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1465-1472
-
-
Sander, T.1
Schulz, H.2
Saar, K.3
Gennaro, E.4
Riggio, M.C.5
Bianchi, A.6
Zara, F.7
Luna, D.8
Bulteau, C.9
Kaminska, A.10
Ville, D.11
Cieuta, C.12
Picard, F.13
Prud'homme, J.F.14
Bate, L.15
Sundquist, A.16
Gardiner, R.M.17
Janssen, G.A.18
de Haan, G.J.19
Kasteleijn-Nolst-Trenite, D.G.20
Bader, A.21
Lindhout, D.22
Riess, O.23
Wienker, T.F.24
Janz, D.25
Reis, A.26
more..
-
37
-
-
0034665203
-
Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map
-
Sugimoto Y., Morita R., Amano K., Fong C.Y., Shah P.U., Castroviejo I.P., Khan S., Delgado-Escueta A.V., and Yamakawa K. Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. Genomics 68 (2000) 264-272
-
(2000)
Genomics
, vol.68
, pp. 264-272
-
-
Sugimoto, Y.1
Morita, R.2
Amano, K.3
Fong, C.Y.4
Shah, P.U.5
Castroviejo, I.P.6
Khan, S.7
Delgado-Escueta, A.V.8
Yamakawa, K.9
-
38
-
-
44449134576
-
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy
-
Tanaka M., Olsen R.W., Medina M.T., Schwartz E., Alonso M.E., Duron R.M., Castro-Ortega R., Martinez-Juarez I.E., Pascual-Castroviejo I., Hado-Salas J., Silva R., Bailey J.N., Bai D., Ochoa A., Jara-Prado A., Pineda G., Macdonald R.L., and Gado-Escueta A.V. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am. J. Hum. Genet. 82 (2008) 1249-1261
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 1249-1261
-
-
Tanaka, M.1
Olsen, R.W.2
Medina, M.T.3
Schwartz, E.4
Alonso, M.E.5
Duron, R.M.6
Castro-Ortega, R.7
Martinez-Juarez, I.E.8
Pascual-Castroviejo, I.9
Hado-Salas, J.10
Silva, R.11
Bailey, J.N.12
Bai, D.13
Ochoa, A.14
Jara-Prado, A.15
Pineda, G.16
Macdonald, R.L.17
Gado-Escueta, A.V.18
-
39
-
-
0035033520
-
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
-
Wallace R.H., Marini C., Petrou S., Harkin L.A., Bowser D.N., Panchal R.G., Williams D.A., Sutherland G.R., Mulley J.C., Scheffer I.E., and Berkovic S.F. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28 (2001) 49-52
-
(2001)
Nat. Genet.
, vol.28
, pp. 49-52
-
-
Wallace, R.H.1
Marini, C.2
Petrou, S.3
Harkin, L.A.4
Bowser, D.N.5
Panchal, R.G.6
Williams, D.A.7
Sutherland, G.R.8
Mulley, J.C.9
Scheffer, I.E.10
Berkovic, S.F.11
-
40
-
-
50149084713
-
Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking
-
Webber E., Li L., and Chin L.S. Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking. J. Mol. Biol. 382 (2008) 638-651
-
(2008)
J. Mol. Biol.
, vol.382
, pp. 638-651
-
-
Webber, E.1
Li, L.2
Chin, L.S.3
-
41
-
-
50149107957
-
Genetic mechanisms in idiopathic epilepsies
-
Weber Y.G., and Lerche H. Genetic mechanisms in idiopathic epilepsies. Dev. Med. Child Neurol. 50 (2008) 648-654
-
(2008)
Dev. Med. Child Neurol.
, vol.50
, pp. 648-654
-
-
Weber, Y.G.1
Lerche, H.2
-
42
-
-
0028301661
-
A class of tests for linkage using affected pedigree members
-
Whittemore A.S., and Halpern J. A class of tests for linkage using affected pedigree members. Biometrics 50 (1994) 118-127
-
(1994)
Biometrics
, vol.50
, pp. 118-127
-
-
Whittemore, A.S.1
Halpern, J.2
-
43
-
-
33747832183
-
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization
-
Yuan H.Y., Chiou J.J., Tseng W.H., Liu C.H., Liu C.K., Lin Y.J., Wang H.H., Yao A., Chen Y.T., and Hsu C.N. FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res. 34 (2006) W635-W641
-
(2006)
Nucleic Acids Res.
, vol.34
-
-
Yuan, H.Y.1
Chiou, J.J.2
Tseng, W.H.3
Liu, C.H.4
Liu, C.K.5
Lin, Y.J.6
Wang, H.H.7
Yao, A.8
Chen, Y.T.9
Hsu, C.N.10
|