-
1
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
-
2
-
-
0027511236
-
Genetics and physiology of the myotonic muscle disorders
-
Ptáček LJ, Johnson KJ, Griggs RC. Genetics and physiology of the myotonic muscle disorders. N Engl J Med 1993;328:482-489.
-
(1993)
N Engl J Med
, vol.328
, pp. 482-489
-
-
Ptáček, L.J.1
Johnson, K.J.2
Griggs, R.C.3
-
3
-
-
0025790174
-
Identification of a mutation in the gene causing hyperkalemic periodic paralysis
-
Ptáček LJ, George AL, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021-1027.
-
(1991)
Cell
, vol.67
, pp. 1021-1027
-
-
Ptáček, L.J.1
George, A.L.2
Griggs, R.C.3
Tawil, R.4
Kallen, R.G.5
Barchi, R.L.6
Robertson, M.7
Leppert, M.F.8
-
4
-
-
0025932040
-
+ channel alpha-subunit in hyperkalaemic periodic paralysis
-
+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature 1991;354:387-389.
-
(1991)
Nature
, vol.354
, pp. 387-389
-
-
Rojas, C.V.1
-
5
-
-
0026516209
-
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
-
McClatchey AI, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992;68:769-774.
-
(1992)
Cell
, vol.68
, pp. 769-774
-
-
McClatchey, A.I.1
-
6
-
-
0026766904
-
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
-
Ptáček LJ, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891-897.
-
(1992)
Neuron
, vol.8
, pp. 891-897
-
-
Ptáček, L.J.1
-
7
-
-
0027409755
-
Functional expression of sodium channel mutations identified in families with periodic paralysis
-
Cannon SC, Strittmatter SM. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 1993;10:317-326.
-
(1993)
Neuron
, vol.10
, pp. 317-326
-
-
Cannon, S.C.1
Strittmatter, S.M.2
-
8
-
-
0027212445
-
+ channel mutation causing hyperkalemic periodic paralysis
-
+ channel mutation causing hyperkalemic periodic paralysis. Neuron 1993;10:667-678.
-
(1993)
Neuron
, vol.10
, pp. 667-678
-
-
Cummins, T.R.1
-
9
-
-
0028326016
-
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation
-
Chahine M, et al. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron 1994;12:281-294.
-
(1994)
Neuron
, vol.12
, pp. 281-294
-
-
Chahine, M.1
-
10
-
-
0028589331
-
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro
-
Yang N, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci USA 1994;91:12785-12789.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 12785-12789
-
-
Yang, N.1
-
11
-
-
0028128744
-
+ channel by the V1589M mutation
-
+ channel by the V1589M mutation. J Physiol Lond 1994;478(3):395-402.
-
(1994)
J Physiol Lond
, vol.478
, Issue.3
, pp. 395-402
-
-
Mitrovic, N.1
-
12
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
Ptáček LJ, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994;77:863-868.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptáček, L.J.1
-
13
-
-
0027965420
-
A calcium channel mutation causing hypokalemic periodic paralysis
-
Jurkat Rott K, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994;3:1415-1419.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1415-1419
-
-
Jurkat Rott, K.1
-
14
-
-
0028854326
-
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families
-
Elbaz A, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 1995;56:374-380.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 374-380
-
-
Elbaz, A.1
-
15
-
-
0030970835
-
Genotype-phenotype correlations of DHP receptor alpha-1 gene mutations causing hypokalemic periodic paralysis
-
in press
-
Fouad G, et al. Genotype-phenotype correlations of DHP receptor alpha-1 gene mutations causing hypokalemic periodic paralysis. Neuromuscular Disorders 1997 (in press).
-
(1997)
Neuromuscular Disorders
-
-
Fouad, G.1
-
16
-
-
0026698301
-
Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35
-
Abdalla JA, et al. Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35. Am J Hum Genet 1992;51:579-584.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 579-584
-
-
Abdalla, J.A.1
-
17
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
Koch MC, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
-
(1992)
Science
, vol.257
, pp. 797-800
-
-
Koch, M.C.1
-
18
-
-
0027481915
-
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)
-
George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet 1993;3:305-310.
-
(1993)
Nat Genet
, vol.3
, pp. 305-310
-
-
George A.L., Jr.1
Crackower, M.A.2
Abdalla, J.A.3
Hudson, A.J.4
Ebers, G.C.5
-
19
-
-
0028287533
-
Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion
-
Heine R, et al. Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet 1994;3:1123-1128.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1123-1128
-
-
Heine, R.1
-
20
-
-
0028093245
-
Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice
-
Gronemeier M, et al. Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice. J Biol Chem 1994;269:5963-5967.
-
(1994)
J Biol Chem
, vol.269
, pp. 5963-5967
-
-
Gronemeier, M.1
-
21
-
-
0029853212
-
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita
-
in press
-
Zhang J, et al. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 1996 (in press).
-
(1996)
Neurology
-
-
Zhang, J.1
-
22
-
-
0029559938
-
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel
-
Pusch M, Steinmeyer K, Koch MC, Jentsch TJ. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron 1995;15:1455-1463.
-
(1995)
Neuron
, vol.15
, pp. 1455-1463
-
-
Pusch, M.1
Steinmeyer, K.2
Koch, M.C.3
Jentsch, T.J.4
-
23
-
-
0029738742
-
Mechanism of voltage-dependent gating in skeletal muscle chloride channels
-
Fahlke C, Rosenbohm A, Mitrovic N, George AL Jr, Rudel R. Mechanism of voltage-dependent gating in skeletal muscle chloride channels. Biophys J 1996;71:695-706.
-
(1996)
Biophys J
, vol.71
, pp. 695-706
-
-
Fahlke, C.1
Rosenbohm, A.2
Mitrovic, N.3
George A.L., Jr.4
Rudel, R.5
-
24
-
-
0029162517
-
An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels
-
Fahlke C, Rudel R, Mitrovic N, Zhou M, George AL Jr. An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels. Neuron 1995;15:463-472.
-
(1995)
Neuron
, vol.15
, pp. 463-472
-
-
Fahlke, C.1
Rudel, R.2
Mitrovic, N.3
Zhou, M.4
George A.L., Jr.5
-
25
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 (see comments)
-
Browne DL, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 (see comments). Nat Genet 1994;8:136-140.
-
(1994)
Nat Genet
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
-
26
-
-
0027330927
-
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
-
Shiang R, et al. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 1993;5:351-358.
-
(1993)
Nat Genet
, vol.5
, pp. 351-358
-
-
Shiang, R.1
-
27
-
-
0346031709
-
Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain
-
Headache Classification Committee of the International Headache Society. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Cephalalgia 1988;8(Suppl 7):1-96.
-
(1988)
Cephalalgia
, vol.8
, Issue.7 SUPPL.
, pp. 1-96
-
-
-
28
-
-
0024317220
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Commission on the Classification and Terminology of the International League against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-399.
-
(1989)
Epilepsia
, vol.30
, pp. 389-399
-
-
-
29
-
-
0029091303
-
Paroxysmal dyskinesias: Clinical features and classification
-
Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-579.
-
(1995)
Ann Neurol
, vol.38
, pp. 571-579
-
-
Demirkiran, M.1
Jankovic, J.2
-
30
-
-
0028298042
-
Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features (see comments)
-
Tawil R, et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features (see comments). Ann Neurol 1994;35:326-330.
-
(1994)
Ann Neurol
, vol.35
, pp. 326-330
-
-
Tawil, R.1
-
32
-
-
0001504349
-
-
Oxford: Butterworth-Heinemann
-
Fahn S. The Paroxysmal Dyskinesias. Oxford: Butterworth-Heinemann, 1994;310-345.
-
(1994)
The Paroxysmal Dyskinesias
, pp. 310-345
-
-
Fahn, S.1
-
33
-
-
0004078685
-
-
Their Causes, Symptoms, And Treatment (reprint of 1885 edn.). New York: Dover
-
Gowers W. Epilepsy and Other Chronic Convulsive Diseases. Their Causes, Symptoms, And Treatment (reprint of 1885 edn.). New York: Dover, 1964;75-76.
-
(1964)
Epilepsy and Other Chronic Convulsive Diseases
, pp. 75-76
-
-
Gowers, W.1
-
34
-
-
0001644611
-
Subcortical epilepsy
-
Spiller W. Subcortical epilepsy. Brain 1927;50:171-187.
-
(1927)
Brain
, vol.50
, pp. 171-187
-
-
Spiller, W.1
-
35
-
-
0018891795
-
Paroxysmal dystonic choreoathetosis of Mount and Reback
-
Tibbles J, Barnes S. Paroxysmal dystonic choreoathetosis of Mount and Reback. Pediatrics 1980;65:149-151.
-
(1980)
Pediatrics
, vol.65
, pp. 149-151
-
-
Tibbles, J.1
Barnes, S.2
-
36
-
-
0015359197
-
Tonic seizures induced by movement
-
Burger L, Lopez R, Elliott F. Tonic seizures induced by movement. Neurology 1972;22:656-659.
-
(1972)
Neurology
, vol.22
, pp. 656-659
-
-
Burger, L.1
Lopez, R.2
Elliott, F.3
-
37
-
-
0014064862
-
Hereditary kinesigenic reflex epilepsy: Report of five families of peculiar seizures induced by sudden movements
-
Fukuyama S, Okada R. Hereditary kinesigenic reflex epilepsy: report of five families of peculiar seizures induced by sudden movements. Adv Neurol Sci 1967;11:168-197.
-
(1967)
Adv Neurol Sci
, vol.11
, pp. 168-197
-
-
Fukuyama, S.1
Okada, R.2
-
38
-
-
0029896267
-
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q
-
Fouad GT, Servidei S, Durcan S, Bertini E, Ptáček LJ. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 1996;59:135-139.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 135-139
-
-
Fouad, G.T.1
Servidei, S.2
Durcan, S.3
Bertini, E.4
Ptáček, L.J.5
-
39
-
-
0026001762
-
Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks
-
Hirata K, et al. Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks. Epilepsia 1991;32:492-494.
-
(1991)
Epilepsia
, vol.32
, pp. 492-494
-
-
Hirata, K.1
-
40
-
-
34249756288
-
Paroxysmal choreoathetosis: An epileptic or non-epileptic disorder?
-
Lombroso CT. Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? Ital J Neurol Sci 1995;16:271-277.
-
(1995)
Ital J Neurol Sci
, vol.16
, pp. 271-277
-
-
Lombroso, C.T.1
-
41
-
-
0019503795
-
Hypnogenic paroxysmal dystonia: Epileptic seizures or a new syndrome?
-
Lugaresi E, Cirigonotta F. Hypnogenic paroxysmal dystonia: epileptic seizures or a new syndrome? Sleep 1981;14:129-138.
-
(1981)
Sleep
, vol.14
, pp. 129-138
-
-
Lugaresi, E.1
Cirigonotta, F.2
-
42
-
-
0025120895
-
Nocturnal paroxysmal dystonia with short-lasting attacks: Three cases with evidence for an epileptic frontal lobe origin of seizures
-
Tinuper P, et al. Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 1990;31:549-556.
-
(1990)
Epilepsia
, vol.31
, pp. 549-556
-
-
Tinuper, P.1
-
43
-
-
0027082278
-
A case with nocturnal paroxysmal unilateral dystonia and interictal right frontal epileptic EEG focus: A lateralized variant of nocturnal paroxysmal dystonia?
-
Oguni M, Oguni H, Kozasa M, Fukuyama Y. A case with nocturnal paroxysmal unilateral dystonia and interictal right frontal epileptic EEG focus: a lateralized variant of nocturnal paroxysmal dystonia? Brain Dev 1992;14:412-416.
-
(1992)
Brain Dev
, vol.14
, pp. 412-416
-
-
Oguni, M.1
Oguni, H.2
Kozasa, M.3
Fukuyama, Y.4
-
44
-
-
0027581498
-
Nocturnal paroxysmal dystonia
-
Sellal F, Hirsch E. Nocturnal paroxysmal dystonia (letter; comment). Mov Disord 1993;8:252-253.
-
(1993)
Mov Disord
, vol.8
, pp. 252-253
-
-
Sellal, F.1
Hirsch, E.2
-
45
-
-
0026543705
-
Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy? (see comments)
-
Meierkord H, et al. Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy? (see comments). Mov Disord 1992;7:38-42.
-
(1992)
Mov Disord
, vol.7
, pp. 38-42
-
-
Meierkord, H.1
-
47
-
-
0028905566
-
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
-
Wang Q, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-811.
-
(1995)
Cell
, vol.80
, pp. 805-811
-
-
Wang, Q.1
-
48
-
-
0028914969
-
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
-
Curran ME, et al. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995;80:795-803.
-
(1995)
Cell
, vol.80
, pp. 795-803
-
-
Curran, M.E.1
-
49
-
-
9044240040
-
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
-
Wang Q, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996;12:17-23.
-
(1996)
Nat Genet
, vol.12
, pp. 17-23
-
-
Wang, Q.1
-
50
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-203.
-
(1995)
Nat Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
-
51
-
-
0029048004
-
A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p
-
Kramer PL, et al. A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p (letter). Am J Hum Genet 1995;57:182-185.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 182-185
-
-
Kramer, P.L.1
-
52
-
-
0028963974
-
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p (see comments)
-
Vahedi K, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p (see comments). Ann Neurol 1995;37: 289-293.
-
(1995)
Ann Neurol
, vol.37
, pp. 289-293
-
-
Vahedi, K.1
-
53
-
-
0028920029
-
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p
-
von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 1995;4:279-284.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 279-284
-
-
Von Brederlow, B.1
Hahn, A.F.2
Koopman, W.J.3
Ebers, G.C.4
Bulman, D.E.5
-
54
-
-
0028113230
-
Genetic heterogeneity of familial hemiplegic migraine
-
Joutel A, et al. Genetic heterogeneity of familial hemiplegic migraine. Am J Hum Genet 1994;55:1166-1172.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1166-1172
-
-
Joutel, A.1
-
55
-
-
0028142733
-
Genetic heterogeneity of familial hemiplegic migraine
-
Ophoff RA, et al. Genetic heterogeneity of familial hemiplegic migraine. Genomics 1994;22:21-26.
-
(1994)
Genomics
, vol.22
, pp. 21-26
-
-
Ophoff, R.A.1
-
56
-
-
0030027095
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probable within 2 cM between D1S443 and D1S197
-
Auburger G, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probable within 2 cM between D1S443 and D1S197. Genomics 1996;31:90-94.
-
(1996)
Genomics
, vol.31
, pp. 90-94
-
-
Auburger, G.1
|