-
1
-
-
0030317076
-
Descriptive epidemiology of epilepsy: Contributions of population-based studies from Rochester, Minnesota
-
Hauser WA, Annegers JF, Rocca WA. Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota. Mayo Clin Proc 1996; 71: 576-86.
-
(1996)
Mayo Clin Proc
, vol.71
, pp. 576-586
-
-
Hauser, W.A.1
Annegers, J.F.2
Rocca, W.A.3
-
2
-
-
0006295998
-
Epilepsy
-
King RA, Rotter JI, Motulsky AG, ed. Oxford: Oxford University Press
-
Bird TD. Epilepsy. In: King RA, Rotter JI, Motulsky AG, ed. The genetic basis of common diseases. Oxford: Oxford University Press, 1992: 732-52.
-
(1992)
The Genetic Basis of Common Diseases
, pp. 732-752
-
-
Bird, T.D.1
-
3
-
-
0030317376
-
Causes of epilepsy: Contributions of the Rochester epidemiology project
-
Annegers JF, Rocca WA, Hauser WA. Causes of epilepsy: contributions of the Rochester epidemiology project. Mayo Clin Proc 1996; 71: 570-5.
-
(1996)
Mayo Clin Proc
, vol.71
, pp. 570-575
-
-
Annegers, J.F.1
Rocca, W.A.2
Hauser, W.A.3
-
4
-
-
0029045967
-
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2
-
Phillips HA, Scheffer IE, Berkovic SF, et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nature Genet 1995; 10: 117-8.
-
(1995)
Nature Genet
, vol.10
, pp. 117-118
-
-
Phillips, H.A.1
Scheffer, I.E.2
Berkovic, S.F.3
-
5
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Gene:1995; 11: 201-3.
-
(1995)
Nature Gene
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
-
6
-
-
0030916583
-
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein O, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997; 6: 943-7.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 943-947
-
-
Steinlein, O.1
Magnusson, A.2
Stoodt, J.3
-
7
-
-
0026758853
-
Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans
-
Anand R, Lindstrom J. Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans. Genomics 1992; 13: 962-7.
-
(1992)
Genomics
, vol.13
, pp. 962-967
-
-
Anand, R.1
Lindstrom, J.2
-
8
-
-
0028140507
-
Molecular cloning and chromosomal localisation of the human α7-nicotinic receptor subunit gene (CHRNA7)
-
Chini B, Raimond E, Elgoyhen AB, et al. Molecular cloning and chromosomal localisation of the human α7-nicotinic receptor subunit gene (CHRNA7). Genomics 1994; 19: 379-81.
-
(1994)
Genomics
, vol.19
, pp. 379-381
-
-
Chini, B.1
Raimond, E.2
Elgoyhen, A.B.3
-
9
-
-
0028318633
-
Cellular distribution of nicotinic acetylcholine receptor subunit mRNAs in the human cerebral cortex as revealed by non-isotopic in situ hybridization
-
Wevers A, Jeske A, Lobron C, et al. Cellular distribution of nicotinic acetylcholine receptor subunit mRNAs in the human cerebral cortex as revealed by non-isotopic in situ hybridization. Brain Res Mot Brain Res 1994; 25: 122-8.
-
(1994)
Brain Res Mot Brain Res
, vol.25
, pp. 122-128
-
-
Wevers, A.1
Jeske, A.2
Lobron, C.3
-
10
-
-
0030602149
-
An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
-
Weiland S, Witzemann V, Villarroel A, Propping P, Steinlein O. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett 1996; 398: 91-6.
-
(1996)
FEBS Lett
, vol.398
, pp. 91-96
-
-
Weiland, S.1
Witzemann, V.2
Villarroel, A.3
Propping, P.4
Steinlein, O.5
-
11
-
-
0030723590
-
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors
-
Kuryatov A, Gerzanich V, Nelson M, Olale F, Lindstrom J. Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. J Ncurosci 1997; 17: 9035-47.
-
(1997)
J Ncurosci
, vol.17
, pp. 9035-9047
-
-
Kuryatov, A.1
Gerzanich, V.2
Nelson, M.3
Olale, F.4
Lindstrom, J.5
-
12
-
-
0032231423
-
Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
-
Phillips HA, Scheffer IE, Grassland KM, et al. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998; 63: 1108-16.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1108-1116
-
-
Phillips, H.A.1
Scheffer, I.E.2
Grassland, K.M.3
-
13
-
-
0032536030
-
A potassium channel mutation in neonatal human epilepsy
-
Biervert G, Schroeder BC, Kubisch G, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998; 279: 403-6.
-
(1998)
Science
, vol.279
, pp. 403-406
-
-
Biervert, G.1
Schroeder, B.C.2
Kubisch, G.3
-
14
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet 1998; 18: 25-9.
-
(1998)
Nature Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
-
15
-
-
0031768841
-
The KCNQ2 potassium channel: Splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3
-
Tinel N, Lauritzen I, Chouabe C, et al. The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3. FEBS Lett 1998; 438: 171-6.
-
(1998)
FEBS Lett
, vol.438
, pp. 171-176
-
-
Tinel, N.1
Lauritzen, I.2
Chouabe, C.3
-
16
-
-
9044240040
-
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
-
Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genet 1996; 12: 17-23.
-
(1996)
Nature Genet
, vol.12
, pp. 17-23
-
-
Wang, Q.1
Curran, M.E.2
Splawski, I.3
-
17
-
-
0031054075
-
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
-
Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome [see comments]. Nature Genet 1997; 15: 186-9.
-
(1997)
Nature Genet
, vol.15
, pp. 186-189
-
-
Neyroud, N.1
Tesson, F.2
Denjoy, I.3
-
18
-
-
0031974209
-
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
-
Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family [see comments]. Nature Genet 1998; 18: 53-5.
-
(1998)
Nature Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
-
19
-
-
0032542232
-
Moderate toss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy [In Process Citation]
-
Schroeder BC, Kubisch C, Stein V, e al. Moderate toss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy [In Process Citation]. Nature 1998; 396: 687-90.
-
(1998)
Nature
, vol.396
, pp. 687-690
-
-
Schroeder, B.C.1
Kubisch, C.2
Stein, V.3
-
20
-
-
2642652238
-
Pore mutations alter closing and opening kinetics in Shaker K+ channels
-
Molina A, Ortega-Saenz P, Lopez-Barneo J. Pore mutations alter closing and opening kinetics in Shaker K+ channels. J Physiol (Lond) 1998; 509: 327-37.
-
(1998)
J Physiol (Lond)
, vol.509
, pp. 327-337
-
-
Molina, A.1
Ortega-Saenz, P.2
Lopez-Barneo, J.3
-
21
-
-
0032479345
-
Single mutations strongly alter the K+-selective pore of the K(in) channel KAT1 [In Process Citation]
-
Dreyer I, Becker D, Bregante M, et al. Single mutations strongly alter the K+-selective pore of the K(in) channel KAT1 [In Process Citation]. FEBS Lett 1998; 430: 370-6.
-
(1998)
FEBS Lett
, vol.430
, pp. 370-376
-
-
Dreyer, I.1
Becker, D.2
Bregante, M.3
-
22
-
-
0031849619
-
Comparison of the open-close kinetics of the cloned inward rectifier K+ channel IRK1 and its point mutant (Q1 40E) in the pore region
-
Guo L, Kubo Y. Comparison of the open-close kinetics of the cloned inward rectifier K+ channel IRK1 and its point mutant (Q1 40E) in the pore region. Receptors Channels 1998; 5: 273-89.
-
(1998)
Receptors Channels
, vol.5
, pp. 273-289
-
-
Guo, L.1
Kubo, Y.2
-
23
-
-
0029952101
-
K(V)LQT1 and IsK (minK) proteins associate to form the 1(Ks) cardiac potassium current
-
Barhanin J, Lesage F, Guillemare E, et al. K(V)LQT1 and IsK (minK) proteins associate to form the 1(Ks) cardiac potassium current [see comments]. Nature 1996; 384: 78-80.
-
(1996)
Nature
, vol.384
, pp. 78-80
-
-
Barhanin, J.1
Lesage, F.2
Guillemare, E.3
-
24
-
-
0029854263
-
Coassembly of K(V)LQT1 -and minK (IsK) proteins to form cardiac 1(Ks) potassium channel
-
Sanguinetti MC, Curran ME,. Zou A, e al. Coassembly of K(V)LQT1 -and minK (IsK) proteins to form cardiac 1(Ks) potassium channel [see comments]. Nature 1996; 384: 80-3.
-
(1996)
Nature
, vol.384
, pp. 80-83
-
-
Sanguinetti, M.C.1
Curran, M.E.2
Zou, A.3
-
25
-
-
0030782276
-
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias
-
Wollnik B, Schroeder BC, Kubisch C, et al. Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet 1997; 6: 1943-9.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1943-1949
-
-
Wollnik, B.1
Schroeder, B.C.2
Kubisch, C.3
-
26
-
-
0001665807
-
Mapping a locus for idiopathic epilepsy in a large multiplex family
-
Lopes-Cendes I, Scheffer IE, Berkovic SF, et al. Mapping a locus for idiopathic epilepsy in a large multiplex family. Epilepsia 1996; 37: 127.
-
(1996)
Epilepsia
, vol.37
, pp. 127
-
-
Lopes-Cendes, I.1
Scheffer, I.E.2
Berkovic, S.F.3
-
27
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B
-
Wallace R, Wang D, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nature Genet 1998; 19: 366-70.
-
(1998)
Nature Genet
, vol.19
, pp. 366-370
-
-
Wallace, R.1
Wang, D.2
Singh, R.3
-
28
-
-
0028020577
-
Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B)
-
Makita N, Sloan-Brown K, Weghuis DO, Ropers HH, George AL, Jr. Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). Genomics 1994; 23: 628-34.
-
(1994)
Genomics
, vol.23
, pp. 628-634
-
-
Makita, N.1
Sloan-Brown, K.2
Weghuis, D.O.3
Ropers, H.H.4
George Jr., A.L.5
-
29
-
-
0032518613
-
Regions of sex-specific hypo- And hyper-recombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19
-
Mohrenweiser HW, Tsujimoto S, Gordon L, Olsen AS. Regions of sex-specific hypo- and hyper-recombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19. Genomics 1998; 47: 153-62.
-
(1998)
Genomics
, vol.47
, pp. 153-162
-
-
Mohrenweiser, H.W.1
Tsujimoto, S.2
Gordon, L.3
Olsen, A.S.4
-
30
-
-
0026551357
-
Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel
-
Isom LL, De Jongh KS, Ration DE, et al. Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel. Science 1992; 256: 839-42.
-
(1992)
Science
, vol.256
, pp. 839-842
-
-
Isom, L.L.1
De Jongh, K.S.2
Ration, D.E.3
-
31
-
-
0028365479
-
Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene
-
Makita N, Bennett PB, Jr., George AL, Jr. Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. J Biol Chem 1994; 269: 7571-8.
-
(1994)
J Biol Chem
, vol.269
, pp. 7571-7578
-
-
Makita, N.1
Bennett Jr., P.B.2
George Jr., A.L.3
-
32
-
-
0028268570
-
Mechanisms of action of currently prescribed and newly developed antiepileptic drugs
-
Macdonald RL, Kelly KM. Mechanisms of action of currently prescribed and newly developed antiepileptic drugs. Epilepsia 1994;35(Suppl 4): S41-50.
-
(1994)
Epilepsia
, vol.35
, Issue.4 SUPPL.
-
-
Macdonald, R.L.1
Kelly, K.M.2
-
33
-
-
0030806159
-
Phenotype variation and newcomers in ion channel disorders
-
Bulman DE. Phenotype variation and newcomers in ion channel disorders. Hum Mol Genet 1997; 6: 1679-85.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1679-1685
-
-
Bulman, D.E.1
-
34
-
-
0029826499
-
Molecular determinants of beta 1 subunit-induced gating modulation in voltage-dependent Na+ channels
-
Makita N, Bennett PB, George AL, Jr. Molecular determinants of beta 1 subunit-induced gating modulation in voltage-dependent Na+ channels. J Neurosci 1996; 16: 7117-27.
-
(1996)
J Neurosci
, vol.16
, pp. 7117-7127
-
-
Makita, N.1
Bennett, P.B.2
George Jr., A.L.3
-
35
-
-
0032512652
-
Molecular determinants of Na+ channel function in the extracellular domain of the betal subunit
-
McCormick KA, Isom LL, Ragsdale D, et al. Molecular determinants of Na+ channel function in the extracellular domain of the betal subunit. J Biol Chem 1998; 273: 3954-62.
-
(1998)
J Biol Chem
, vol.273
, pp. 3954-3962
-
-
McCormick, K.A.1
Isom, L.L.2
Ragsdale, D.3
-
36
-
-
0002015247
-
Family studies on the genetics of juvenile myoclonic epilepsy (epilepsy with petit mal)
-
Beck-Mannagetta G, Anderson V, Doose H, Janz D, ed. Berlin: Springer-Verlag
-
Janz D, Durner M, Beck-Mannagetta G. Family studies on the genetics of juvenile myoclonic epilepsy (epilepsy with petit mal). In: Beck-Mannagetta G, Anderson V, Doose H, Janz D, ed. Genetics of the epilepsies. Berlin: Springer-Verlag, 1989: 43-52.
-
(1989)
Genetics of the Epilepsies
, pp. 43-52
-
-
Janz, D.1
Durner, M.2
Beck-Mannagetta, G.3
-
37
-
-
0023712810
-
Juvenile myoclonic epilepsy may be linked to the BF and HLA loci on human chromosome 6
-
Greenberg DA, Delgado-Escueta AV, Widelitz H, et al. Juvenile myoclonic epilepsy may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet 1988; 31: 185-92.
-
(1988)
Am J Med Genet
, vol.31
, pp. 185-192
-
-
Greenberg, D.A.1
Delgado-Escueta, A.V.2
Widelitz, H.3
-
38
-
-
0026096204
-
Localisation of idiopathic generalised epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients
-
Durner M, Sander T, Greenberg DA, et al. Localisation of idiopathic generalised epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 1991; 41: 1651-5.
-
(1991)
Neurology
, vol.41
, pp. 1651-1655
-
-
Durner, M.1
Sander, T.2
Greenberg, D.A.3
-
39
-
-
0026057715
-
Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region on chromosome 6
-
Weissbecker KA, Durner M, Janz D, et al. Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region on chromosome 6. Am J Med Genet 1991; 38: 32-6.
-
(1991)
Am J Med Genet
, vol.38
, pp. 32-36
-
-
Weissbecker, K.A.1
Durner, M.2
Janz, D.3
-
40
-
-
0029013275
-
Juvenile Myoclonic epilepsy locus in chromosome 6p21.2-p11: Linkage to convulsions and electroencephalography trait
-
Liu AW, Delgado-Escueta AV, Serratosa JM, et al. Juvenile Myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995; 57: 368-81.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 368-381
-
-
Liu, A.W.1
Delgado-Escueta, A.V.2
Serratosa, J.M.3
-
41
-
-
0027362601
-
Linkage analysis of idiopathic generalised 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, et al. Linkage analysis of idiopathic generalised 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 1993; 53: 652-62.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 652-662
-
-
Whitehouse, W.P.1
Rees, M.2
Curtis, D.3
-
42
-
-
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, et al. 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 1996; 59: 653-63.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 653-663
-
-
Elmslie, F.V.1
Williamson, M.P.2
Rees, M.3
-
43
-
-
8544254723
-
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
-
Elmslie FV, Rees M, Williamson MP, et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Gene: 1997; 6(8): 1329-34.
-
(1997)
Hum Mol Gene
, vol.6
, Issue.8
, pp. 1329-1334
-
-
Elmslie, F.V.1
Rees, M.2
Williamson, M.P.3
-
44
-
-
0030884260
-
Comparison of the regional expression of nicotinic acetylcholine receptor alpha7 mRNA and [1251]-alpha-bungarotoxin binding in human postmortem brain
-
Breese CR, Adams C, Logel J, et al. Comparison of the regional expression of nicotinic acetylcholine receptor alpha7 mRNA and [1251]-alpha-bungarotoxin binding in human postmortem brain. J Comp Neurol 1997; 387: 385-98.
-
(1997)
J Comp Neurol
, vol.387
, pp. 385-398
-
-
Breese, C.R.1
Adams, C.2
Logel, J.3
-
45
-
-
0031649494
-
Centrotemporal spikes in families with rolandic epilepsy: Linkage to chromosome 15q14
-
Neubauer BA, Fiedler B, Himmelein B, et al. Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 1998; 51: 1608-12.
-
(1998)
Neurology
, vol.51
, pp. 1608-1612
-
-
Neubauer, B.A.1
Fiedler, B.2
Himmelein, B.3
-
46
-
-
0029000061
-
Lissencephaly and other malformations of cortical development: 1995 update
-
Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 1995; 26: 132-47.
-
(1995)
Neuropediatrics
, vol.26
, pp. 132-147
-
-
Dobyns, W.B.1
Truwit, C.L.2
-
47
-
-
0028023599
-
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor
-
Hattori M, Adachl H, Tsujlmoto M, Aral H, Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature 1994; 370: 216-8.
-
(1994)
Nature
, vol.370
, pp. 216-218
-
-
Hattori, M.1
Adachl, H.2
Tsujlmoto, M.3
Aral, H.4
Inoue, K.5
-
48
-
-
0031040866
-
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dicker syndrome
-
Lo Nigro C, Chong CS, Smith AC, et al. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dicker syndrome. Hum Mol Genet 1997; 6: 157-64.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 157-164
-
-
Lo Nigro, C.1
Chong, C.S.2
Smith, A.C.3
-
49
-
-
0030589601
-
Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor
-
Albrecht U, Abu-Issa R, Ratz B, et al. Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor. Dev Biol 1996; 180: 579-93.
-
(1996)
Dev Biol
, vol.180
, pp. 579-593
-
-
Albrecht, U.1
Abu-Issa, R.2
Ratz, B.3
-
50
-
-
0032057722
-
Abnormal cortical development; towards elucidation of the LIS1 gene product function (Review) [In Process Citation]
-
Reiner O, Sapir T. Abnormal cortical development; towards elucidation of the LIS1 gene product function (Review) [In Process Citation]. Int J Mol Med 1998; 1: 849-53.
-
(1998)
Int J Mol Med
, vol.1
, pp. 849-853
-
-
Reiner, O.1
Sapir, T.2
-
51
-
-
10144257864
-
X-linked malformations of neuronal migration
-
Dobyns WB, Andermann E, Andermann F, et al. X-linked malformations of neuronal migration. Neurology 1996; 47: 331-9.
-
(1996)
Neurology
, vol.47
, pp. 331-339
-
-
Dobyns, W.B.1
Andermann, E.2
Andermann, F.3
-
52
-
-
17444444915
-
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
-
des Portes V, Pinard JM, Billuart P, et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998; 92: 51-61.
-
(1998)
Cell
, vol.92
, pp. 51-61
-
-
Des Portes, V.1
Pinard, J.M.2
Billuart, P.3
-
53
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
-
Gleeson JG, Allen KM, Fox JW, et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998; 92: 63-72.
-
(1998)
Cell
, vol.92
, pp. 63-72
-
-
Gleeson, J.G.1
Allen, K.M.2
Fox, J.W.3
-
54
-
-
0031829069
-
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects
-
Sossey-Alaoui K, Hartung AJ, Guerrini R, et al. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet 1998; 7: 1327-32.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1327-1332
-
-
Sossey-Alaoui, K.1
Hartung, A.J.2
Guerrini, R.3
-
56
-
-
0030027091
-
Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
-
Eksioglu YZ, Scheffer IE, Cardenas P, et al. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 1996; 16: 77-87.
-
(1996)
Neuron
, vol.16
, pp. 77-87
-
-
Eksioglu, Y.Z.1
Scheffer, I.E.2
Cardenas, P.3
-
57
-
-
0032422555
-
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia [In Process Citation]
-
Fox JW, Lamperti ED, Eksioglu YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia [In Process Citation]. Neuron 1998; 21: 1315-25.
-
(1998)
Neuron
, vol.21
, pp. 1315-1325
-
-
Fox, J.W.1
Lamperti, E.D.2
Eksioglu, Y.Z.3
-
58
-
-
0025909848
-
Localisation of a gene for progressive myoclonus epilepsy to chromosome 21q22
-
Lehesjoki AE, Koskiniemi M, Sistonen P, et al. Localisation of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 1991; 88: 3696-9.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 3696-3699
-
-
Lehesjoki, A.E.1
Koskiniemi, M.2
Sistonen, P.3
-
59
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio LA, Lehesjoki AE, Stone NE, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996; 271: 1731-4.
-
(1996)
Science
, vol.271
, pp. 1731-1734
-
-
Pennacchio, L.A.1
Lehesjoki, A.E.2
Stone, N.E.3
|