-
1
-
-
0033824460
-
Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing
-
Alderborn A, Kristofferson A, Hammerling U. 2000. Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing. Genome Res 10:1249-1258.
-
(2000)
Genome Res
, vol.10
, pp. 1249-1258
-
-
Alderborn, A.1
Kristofferson, A.2
Hammerling, U.3
-
2
-
-
0034758045
-
Genomewide scans of complex human diseases: True linkage is hard to find
-
Altmüller J, Palmer LJ, Fischer G, Scherb H, Wjst M. 2001. Genomewide scans of complex human diseases: True linkage is hard to find. Am J Hum Genet 69:936-950.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 936-950
-
-
Altmüller, J.1
Palmer, L.J.2
Fischer, G.3
Scherb, H.4
Wjst, M.5
-
3
-
-
0034282253
-
The role of the thalamus in vigilance and epileptogenic mechanisms
-
Avanzini G, Panzica F, de Curtis M. 2000. The role of the thalamus in vigilance and epileptogenic mechanisms. Clin Neurophysiol 111(Suppl 2): S19-S26.
-
(2000)
Clin Neurophysiol
, vol.111
, Issue.SUPPL. 2
-
-
Avanzini, G.1
Panzica, F.2
De Curtis, M.3
-
4
-
-
0035046475
-
Generalized epileptic disorders: An update
-
Avoli M, Rogawski MA, Avanzini G. 2001. Generalized epileptic disorders: An update. Epilepsia 42:445-457.
-
(2001)
Epilepsia
, vol.42
, pp. 445-457
-
-
Avoli, M.1
Rogawski, M.A.2
Avanzini, G.3
-
5
-
-
0343238943
-
Assignment of the human metabotropic glutamate receptor gene GRM4 to chromosome 6 band p21.3 by radiation hybrid mapping
-
Barbon A, Ferraboli S, Barlati S. 2000. Assignment of the human metabotropic glutamate receptor gene GRM4 to chromosome 6 band p21.3 by radiation hybrid mapping. Cytogenet Cell Genet 88:210.
-
(2000)
Cytogenet Cell Genet
, vol.88
, pp. 210
-
-
Barbon, A.1
Ferraboli, S.2
Barlati, S.3
-
6
-
-
0035919557
-
Anticonvulsant activity of a mGlu(4alpha) receptor selective agonist, (1S,3R,4S)-1-aminocyclopentane-1,2,4-tricarboxylic acid
-
Chapman AG, Talebi A, Yip PK, Meldrum BS. 2001. Anticonvulsant activity of a mGlu(4alpha) receptor selective agonist, (1S,3R,4S)-1-aminocyclopentane-1,2,4-tricarboxylic acid. Eur J Pharmacol 424:107-113.
-
(2001)
Eur J Pharmacol
, vol.424
, pp. 107-113
-
-
Chapman, A.G.1
Talebi, A.2
Yip, P.K.3
Meldrum, B.S.4
-
7
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Commission on Classification and Terminology of the International League Against Epilepsy. 1989. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389-399.
-
(1989)
Epilepsia
, vol.30
, pp. 389-399
-
-
-
8
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description of human sequence variations. Hum Genet 109:121-124.
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
9
-
-
0026096204
-
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients
-
Durner M, Sander T, Greenberg DA, Johnson K, Beck-Mannagetta G, Janz D. 1991. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 41: 1651-1655.
-
(1991)
Neurology
, vol.41
, pp. 1651-1655
-
-
Durner, M.1
Sander, T.2
Greenberg, D.A.3
Johnson, K.4
Beck-Mannagetta, G.5
Janz, D.6
-
10
-
-
0034615038
-
No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
-
Durner M, Shinnar S, Resor SR, Moshe SL, Rosenbaum D, Cohen J, Harden C, Kang H, Hertz S, Wallace S, Luciano D, Ballaban-Gil K, Greenberg DA. 2000. No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Am J Med Genet 96: 49-52.
-
(2000)
Am J Med Genet
, vol.96
, pp. 49-52
-
-
Durner, M.1
Shinnar, S.2
Resor, S.R.3
Moshe, S.L.4
Rosenbaum, D.5
Cohen, J.6
Harden, C.7
Kang, H.8
Hertz, S.9
Wallace, S.10
Luciano, D.11
Ballaban-Gil, K.12
Greenberg, D.A.13
-
11
-
-
19244363758
-
Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region
-
Elmslie FV, Williamson MP, Rees M, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Richens A, Chadwick D, Whitehouse WP, Gardiner RM. 1996. Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region. Am J Hum Genet 59:653-663.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 653-663
-
-
Elmslie, F.V.1
Williamson, M.P.2
Rees, M.3
Kerr, M.4
Kjeldsen, M.J.5
Pang, K.A.6
Sundqvist, A.7
Friis, M.L.8
Richens, A.9
Chadwick, D.10
Whitehouse, W.P.11
Gardiner, R.M.12
-
12
-
-
8544254723
-
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
-
Elmslie FV, Rees M, Williamson MP, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Curtis D, Whitehouse WP, Gardiner RM. 1997. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 6:1329-1334.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1329-1334
-
-
Elmslie, F.V.1
Rees, M.2
Williamson, M.P.3
Kerr, M.4
Kjeldsen, M.J.5
Pang, K.A.6
Sundqvist, A.7
Friis, M.L.8
Chadwick, D.9
Richens, A.10
Covanis, A.11
Santos, M.12
Arzimanoglou, A.13
Panayiotopoulos, C.P.14
Curtis, D.15
Whitehouse, W.P.16
Gardiner, R.M.17
-
13
-
-
0027299118
-
The chromosome 6p epilepsy locus: Exploring mode of inheritance and heterogeneity through linkage analysis
-
Greenberg DA, Delgado-Escueta AV. 1993. The chromosome 6p epilepsy locus: Exploring mode of inheritance and heterogeneity through linkage analysis. Epilepsia 34(Suppl 3):S12-S18.
-
(1993)
Epilepsia
, vol.34
, Issue.SUPPL. 3
-
-
Greenberg, D.A.1
Delgado-Escueta, A.V.2
-
14
-
-
0023712810
-
Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6
-
Greenberg DA, Delgado-Escueta AV, Widelitz H, Sparkes RS, Treiman L, Maldonado HM, Park MS, Terasaki PI. 1988. Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet 31:185-192.
-
(1988)
Am J Med Genet
, vol.31
, pp. 185-192
-
-
Greenberg, D.A.1
Delgado-Escueta, A.V.2
Widelitz, H.3
Sparkes, R.S.4
Treiman, L.5
Maldonado, H.M.6
Park, M.S.7
Terasaki, P.I.8
-
15
-
-
0026841987
-
Evidence for multiple gene loci in the expression of the common generalized epilepsies
-
Greenberg DA, Durner M, Delgado-Escueta AV. 1992. Evidence for multiple gene loci in the expression of the common generalized epilepsies. Neurology 42:56-62.
-
(1992)
Neurology
, vol.42
, pp. 56-62
-
-
Greenberg, D.A.1
Durner, M.2
Delgado-Escueta, A.V.3
-
16
-
-
0029041041
-
The genetics of idiopathic generalized epilepsies of adolescent onset: Differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal
-
Greenberg DA, Durner M, Resor S, Rosenbaum D, Shinnar S. 1995. The genetics of idiopathic generalized epilepsies of adolescent onset: Differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal. Neurology 45:942-946.
-
(1995)
Neurology
, vol.45
, pp. 942-946
-
-
Greenberg, D.A.1
Durner, M.2
Resor, S.3
Rosenbaum, D.4
Shinnar, S.5
-
17
-
-
0033912851
-
Reproducibility and complications in gene searches: Linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy
-
Greenberg DA, Durner M, Keddache M, Shinnar S, Resor SR, Moshe SL, Rosenbaum D, Cohen J, Harden C, Kang H, Wallace S, Luciano D, Ballaban-Gil K, Tomasini L, Zhou G, Klotz I, Dicker E. 2000. Reproducibility and complications in gene searches: Linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy. Am J Hum Genet 66:508-516.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 508-516
-
-
Greenberg, D.A.1
Durner, M.2
Keddache, M.3
Shinnar, S.4
Resor, S.R.5
Moshe, S.L.6
Rosenbaum, D.7
Cohen, J.8
Harden, C.9
Kang, H.10
Wallace, S.11
Luciano, D.12
Ballaban-Gil, K.13
Tomasini, L.14
Zhou, G.15
Klotz, I.16
Dicker, E.17
-
18
-
-
0031024530
-
The idiopathic generalized epilepsies of adolescence with childhood and juvenile age of onset
-
Janz D. 1997. The idiopathic generalized epilepsies of adolescence with childhood and juvenile age of onset. Epilepsia 38:4-11.
-
(1997)
Epilepsia
, vol.38
, pp. 4-11
-
-
Janz, D.1
-
19
-
-
0028090414
-
Genetic dissection of complex traits
-
Lander ES, Schork NJ. 1994. Genetic dissection of complex traits. Science 265:2037-2048.
-
(1994)
Science
, vol.265
, pp. 2037-2048
-
-
Lander, E.S.1
Schork, N.J.2
-
20
-
-
0033958201
-
Up-regulation of the metabotropic glutamate receptor mGluR4 in hippocampal neurons with reduced seizure vulnerability
-
Lie AA, Becker A, Behle K, Beck H, Malitschek B, Conn PJ, Kuhn R, Nitsch R, Plaschke M, Schramm J, Elger CE, Wiestler OD, Blumcke I. 2000. Up-regulation of the metabotropic glutamate receptor mGluR4 in hippocampal neurons with reduced seizure vulnerability. Ann Neurol 47:26-35.
-
(2000)
Ann Neurol
, vol.47
, pp. 26-35
-
-
Lie, A.A.1
Becker, A.2
Behle, K.3
Beck, H.4
Malitschek, B.5
Conn, P.J.6
Kuhn, R.7
Nitsch, R.8
Plaschke, M.9
Schramm, J.10
Elger, C.E.11
Wiestler, O.D.12
Blumcke, I.13
-
21
-
-
0029892632
-
Juvenile myoclonic epilepsy in chromosome 6p12-p11: Locus heterogeneity and recombinations
-
Liu AW, Delgado-Escueta AV, Gee MN, Serratosa JM, Zhang QW, Alonso ME, Medina MT, Cordova S, Zhao HZ, Spellman JM, Donnadieu FR, Peek JR, Treiman LJ, Sparkes RS. 1996. Juvenile myoclonic epilepsy in chromosome 6p12-p11: Locus heterogeneity and recombinations. Am J Med Genet 63:438-446.
-
(1996)
Am J Med Genet
, vol.63
, pp. 438-446
-
-
Liu, A.W.1
Delgado-Escueta, A.V.2
Gee, M.N.3
Serratosa, J.M.4
Zhang, Q.W.5
Alonso, M.E.6
Medina, M.T.7
Cordova, S.8
Zhao, H.Z.9
Spellman, J.M.10
Donnadieu, F.R.11
Peek, J.R.12
Treiman, L.J.13
Sparkes, R.S.14
-
23
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
24
-
-
0034625728
-
No evidence of linkage to 6p markers in Spanish families with juvenile myoclonic epilepsy
-
Obach V, Arroyo S, Santamaria J, Grinberg D, Oliva R. 2000. No evidence of linkage to 6p markers in Spanish families with juvenile myoclonic epilepsy. Neurosci Lett 286:213-217.
-
(2000)
Neurosci Lett
, vol.286
, pp. 213-217
-
-
Obach, V.1
Arroyo, S.2
Santamaria, J.3
Grinberg, D.4
Oliva, R.5
-
25
-
-
0034940397
-
Mutation screening of the metabotropic glutamate receptor mGluR4 (GRM4) gene in patients with schizophrenia
-
Ohtsuki T, Toru M, Arinami T. 2001. Mutation screening of the metabotropic glutamate receptor mGluR4 (GRM4) gene in patients with schizophrenia. Psychiatr Genet 11:79-83.
-
(2001)
Psychiatr Genet
, vol.11
, pp. 79-83
-
-
Ohtsuki, T.1
Toru, M.2
Arinami, T.3
-
26
-
-
0029126795
-
The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1"
-
Sander T, Hildmann T, Janz D, Wienker TF, Neitzel H, Bianchi A, Bauer G, Sailer U, Berek K, Schmitz B. 1995. The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1." Ann Neurol 38:210-217.
-
(1995)
Ann Neurol
, vol.38
, pp. 210-217
-
-
Sander, T.1
Hildmann, T.2
Janz, D.3
Wienker, T.F.4
Neitzel, H.5
Bianchi, A.6
Bauer, G.7
Sailer, U.8
Berek, K.9
Schmitz, B.10
-
27
-
-
0030882485
-
Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6
-
Sander T, Bockenkamp B, Hildmann T, Blasczyk R, Kretz R, Wienker TF, Volz A, Schmitz B, Beck-Mannagetta G, Riess O, Epplen JT, Janz D, Ziegler A. 1997. Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6. Neurology 49:842-847.
-
(1997)
Neurology
, vol.49
, pp. 842-847
-
-
Sander, T.1
Bockenkamp, B.2
Hildmann, T.3
Blasczyk, R.4
Kretz, R.5
Wienker, T.F.6
Volz, A.7
Schmitz, B.8
Beck-Mannagetta, G.9
Riess, O.10
Epplen, J.T.11
Janz, D.12
Ziegler, A.13
-
28
-
-
0033574379
-
Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14
-
Sander T, Schulz H, Vieira-Saeker AM, Bianchi A, Sailer U, Bauer G, Scaramelli A, Wienker TF, Saar K, Reis A, Janz D, Epplen JT, Riess O. 1999. Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14. Am J Med Genet 88:182-187.
-
(1999)
Am J Med Genet
, vol.88
, pp. 182-187
-
-
Sander, T.1
Schulz, H.2
Vieira-Saeker, A.M.3
Bianchi, A.4
Sailer, U.5
Bauer, G.6
Scaramelli, A.7
Wienker, T.F.8
Saar, K.9
Reis, A.10
Janz, D.11
Epplen, J.T.12
Riess, O.13
-
29
-
-
18544394906
-
Genome search for susceptibility loci of common idiopathic generalised epilepsies
-
Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn NTD, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A. 2000. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet 9:1465-1472.
-
(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, N.T.D.20
Bader, A.21
Lindhout, D.22
Riess, O.23
Wienker, T.F.24
Janz, D.25
Reis, A.26
more..
-
31
-
-
0034811597
-
Unveiling the functions of presynaptic metabotropic glutamate receptors in the central nervous system
-
Schoepp DD. 2001. Unveiling the functions of presynaptic metabotropic glutamate receptors in the central nervous system. J Pharmacol Exp Ther 299:12-20.
-
(2001)
J Pharmacol Exp Ther
, vol.299
, pp. 12-20
-
-
Schoepp, D.D.1
-
32
-
-
0030070326
-
Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy
-
Serratosa JM, Delgado-Escueta AV, Medina MT, Zhang Q, Iranmanesh R, Sparkes RS. 1996. Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy. Ann Neurol 39:187-195.
-
(1996)
Ann Neurol
, vol.39
, pp. 187-195
-
-
Serratosa, J.M.1
Delgado-Escueta, A.V.2
Medina, M.T.3
Zhang, Q.4
Iranmanesh, R.5
Sparkes, R.S.6
-
33
-
-
0034663006
-
Modulation of absence seizures by the GABA(A) receptor: A critical role for metabotropic glutamate receptor 4 (mGluR4)
-
Snead OC III, Banerjee PK, Burnham M, Hampson D. 2000. Modulation of absence seizures by the GABA(A) receptor: A critical role for metabotropic glutamate receptor 4 (mGluR4). J Neurosci 20:6218-6224.
-
(2000)
J Neurosci
, vol.20
, pp. 6218-6224
-
-
Snead O.C. III1
Banerjee, P.K.2
Burnham, M.3
Hampson, D.4
-
34
-
-
0029858544
-
The TDT and other family-based tests for linkage disequilibrium and association
-
Spielman RS, Ewens WJ. 1996. The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 59:983-989.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 983-989
-
-
Spielman, R.S.1
Ewens, W.J.2
-
35
-
-
0030926112
-
Prolonged anticonvulsant action of glutamate metabotropic receptor agonists in inferior colliculus of genetically epilepsy-prone rats
-
Tang E, Yip PK, Chapman AG, Jane DE, Meldrum BS. 1997. Prolonged anticonvulsant action of glutamate metabotropic receptor agonists in inferior colliculus of genetically epilepsy-prone rats. Eur J Pharmacol 327:109-115.
-
(1997)
Eur J Pharmacol
, vol.327
, pp. 109-115
-
-
Tang, E.1
Yip, P.K.2
Chapman, A.G.3
Jane, D.E.4
Meldrum, B.S.5
-
36
-
-
0032402917
-
Roles of metabotropic glutamate receptor subtypes in modulation of pentylenetetrazole-induced seizure activity in mice
-
Thomsen C, Dalby NO. 1998. Roles of metabotropic glutamate receptor subtypes in modulation of pentylenetetrazole-induced seizure activity in mice. Neuropharmacology 37:1465-1473.
-
(1998)
Neuropharmacology
, vol.37
, pp. 1465-1473
-
-
Thomsen, C.1
Dalby, N.O.2
-
37
-
-
0029097032
-
Induction or protection of limbic seizures in mice by mGluR subtype selective agonists
-
Tizzano JP, Griffey KI, Schoepp DD. 1995. Induction or protection of limbic seizures in mice by mGluR subtype selective agonists. Neuropharmacology 34:1063-1067.
-
(1995)
Neuropharmacology
, vol.34
, pp. 1063-1067
-
-
Tizzano, J.P.1
Griffey, K.I.2
Schoepp, D.D.3
-
38
-
-
0027362601
-
Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: No evidence for an epilepsy locus in the HLA region
-
Whitehouse WP, Rees M, Curtis D, Sundqvist A, Parker K, Chung E, Baralle D, Gardiner RM. 1993. Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: No evidence for an epilepsy locus in the HLA region. Am J Hum Genet 53:652-662.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 652-662
-
-
Whitehouse, W.P.1
Rees, M.2
Curtis, D.3
Sundqvist, A.4
Parker, K.5
Chung, E.6
Baralle, D.7
Gardiner, R.M.8
|