-
1
-
-
0028919918
-
Episodic ataxias as channelopathies
-
Griggs RC, Nutt JG. Episodic ataxias as channelopathies. Ann Neurol 1995;37:285-7.
-
(1995)
Ann Neurol
, vol.37
, pp. 285-287
-
-
Griggs, R.C.1
Nutt, J.G.2
-
2
-
-
0028307668
-
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia
-
Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet 1994;3:941-6.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 941-946
-
-
Lorenz, C.1
Meyer-Kleine, C.2
Steinmeyer, K.3
Koch, M.C.4
Jentsch, T.J.5
-
3
-
-
0030668811
-
Ion channel mutations and diseases of skeletal muscle
-
Barchi RL. Ion channel mutations and diseases of skeletal muscle. Neurobiol Dis 1997;4:254-64.
-
(1997)
Neurobiol Dis
, vol.4
, pp. 254-264
-
-
Barchi, R.L.1
-
4
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
Koch MC, Steinmeyer K, Lorenz C, 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
Steinmeyer, K.2
Lorenz, C.3
-
5
-
-
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;3:305-10.
-
(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
-
6
-
-
0027997634
-
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita
-
George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 1994;3:2071-2.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2071-2072
-
-
George A.L., Jr.1
Sloan-Brown, K.2
Fenichel, G.M.3
Mitchell, G.A.4
Spiegel, R.5
Pascuzzi, R.M.6
-
7
-
-
0015007492
-
Genetic approaches to the nosology of muscular disease: Myotonias and similar diseases
-
Becker PE. Genetic approaches to the nosology of muscular disease: myotonias and similar diseases. Birth Defects 1971;7:52-62.
-
(1971)
Birth Defects
, vol.7
, pp. 52-62
-
-
Becker, P.E.1
-
8
-
-
9544248756
-
Hereditary dysfunction of voltage-gated sodium channels: From clinical phenotype to molecular mechanisms
-
George AL Jr. Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms. Nephrol Dial Transplant 1996;11:1730-7.
-
(1996)
Nephrol Dial Transplant
, vol.11
, pp. 1730-1737
-
-
George A.L., Jr.1
-
9
-
-
0027991026
-
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis
-
Ptacek LJ, Tawil R, Griggs RC, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 1994;44:1500-3.
-
(1994)
Neurology
, vol.44
, pp. 1500-1503
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
-
10
-
-
0026047223
-
Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus
-
Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet 1991;49:851-4.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 851-854
-
-
Ptacek, L.J.1
Trimmer, J.S.2
Agnew, W.S.3
Roberts, J.W.4
Petajan, J.H.5
Leppert, M.6
-
11
-
-
0027237778
-
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
-
Heine R, Pika U, Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet 1993;2:1349-53.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1349-1353
-
-
Heine, R.1
Pika, U.2
Lehmann-Horn, F.3
-
12
-
-
0026317944
-
Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus
-
Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am J Hum Genet 1991;49:378-82.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 378-382
-
-
Ptacek, L.J.1
Tyler, F.2
Trimmer, J.S.3
Agnew, W.S.4
Leppert, M.5
-
13
-
-
0025649547
-
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene
-
Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990;250:1000-2.
-
(1990)
Science
, vol.250
, pp. 1000-1002
-
-
Fontaine, B.1
Khurana, T.S.2
Hoffman, E.P.3
-
14
-
-
0026568819
-
Linkage of atypical myotonia congenita to a sodium channel locus
-
Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology 1992;42:431-3.
-
(1992)
Neurology
, vol.42
, pp. 431-433
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
Storvick, D.4
Leppert, M.5
-
15
-
-
0023688779
-
The periodic paralyses
-
Riggs JE. The periodic paralyses. Neurol Clin 1988;6:485-98.
-
(1988)
Neurol Clin
, vol.6
, pp. 485-498
-
-
Riggs, J.E.1
-
17
-
-
0028061597
-
Myotonia fluctuans. A third type of muscle sodium channel disease
-
Ricker K, Moxley RT, Heine R, Lehmann-Horn F. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 1994;51:1095-102.
-
(1994)
Arch Neurol
, vol.51
, pp. 1095-1102
-
-
Ricker, K.1
Moxley, R.T.2
Heine, R.3
Lehmann-Horn, F.4
-
18
-
-
0030799454
-
Calcium channels in neurological disease
-
Greenberg DA. Calcium channels in neurological disease. Ann Neurol 1997;42:275-82.
-
(1997)
Ann Neurol
, vol.42
, pp. 275-282
-
-
Greenberg, D.A.1
-
19
-
-
0021909652
-
Familial hypokalemic periodic paralysis. 50-Year follow-up of a large family
-
Buruma OJ, Bots GT, Went LN. Familial hypokalemic periodic paralysis. 50-year follow-up of a large family. Arch Neurol 1985;42:28-31.
-
(1985)
Arch Neurol
, vol.42
, pp. 28-31
-
-
Buruma, O.J.1
Bots, G.T.2
Went, L.N.3
-
20
-
-
0028269130
-
Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects
-
Links TP, Smit AJ, Molenaar WM, Zwarts MJ, Oosterhuis HJ. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. J Neurol Sci 1994;122:33-43.
-
(1994)
J Neurol Sci
, vol.122
, pp. 33-43
-
-
Links, T.P.1
Smit, A.J.2
Molenaar, W.M.3
Zwarts, M.J.4
Oosterhuis, H.J.5
-
21
-
-
0028361074
-
Mapping of hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
-
Fontaine B, Vale-Santos J, Jurkat-Rott K, et al. Mapping of hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet 1994;6:267-72.
-
(1994)
Nat Genet
, vol.6
, pp. 267-272
-
-
Fontaine, B.1
Vale-Santos, J.2
Jurkat-Rott, K.3
-
22
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalaemic periodic paralysis
-
Ptacek LJ, Tawil R, Griggs RC, et al. Dihydropyridine receptor mutations cause hypokalaemic periodic paralysis. Cell 1994;77:863-8.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
-
23
-
-
0027250785
-
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
-
Quane KA, Healy JM, Keating KE, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993;5:51-5.
-
(1993)
Nat Genet
, vol.5
, pp. 51-55
-
-
Quane, K.A.1
Healy, J.M.2
Keating, K.E.3
-
24
-
-
0026319058
-
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia
-
Fujii J, Otsu K, Zorzato F, et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 1991;253:448-51.
-
(1991)
Science
, vol.253
, pp. 448-451
-
-
Fujii, J.1
Otsu, K.2
Zorzato, F.3
-
26
-
-
0036323498
-
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes
-
Robinson RL, Brooks C, Brown SL, et al. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum Mutat 2002;20:88-97.
-
(2002)
Hum Mutat
, vol.20
, pp. 88-97
-
-
Robinson, R.L.1
Brooks, C.2
Brown, S.L.3
-
27
-
-
0036896192
-
The spectrum of pathology in central core disease
-
Sewry CA, Muller C, Davis M, et al. The spectrum of pathology in central core disease. Neuromuscul Disord 2002;12:930-8.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 930-938
-
-
Sewry, C.A.1
Muller, C.2
Davis, M.3
-
28
-
-
0001847927
-
Cloned potassium channels from eukaryotes and prokaryotes
-
Jan LY, Jan YN. Cloned potassium channels from eukaryotes and prokaryotes. Annu Rev Neurosci 1997;20:91-123.
-
(1997)
Annu Rev Neurosci
, vol.20
, pp. 91-123
-
-
Jan, L.Y.1
Jan, Y.N.2
-
29
-
-
0025181699
-
Members of the RCK potassium channel family are differentially expressed in the rat nervous system
-
Beckh S, Pongs O. Members of the RCK potassium channel family are differentially expressed in the rat nervous system. EMBO J 1990;9:777-82.
-
(1990)
EMBO J
, vol.9
, pp. 777-782
-
-
Beckh, S.1
Pongs, O.2
-
30
-
-
0025006108
-
Familial paroxysmal kinesigenic ataxia and continuous myokymia
-
Brunt ER, van Weerden TW. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 1990;113:1361-82.
-
(1990)
Brain
, vol.113
, pp. 1361-1382
-
-
Brunt, E.R.1
Van Weerden, T.W.2
-
31
-
-
0028136739
-
A gene for episodic ataxia/myokymia maps to chromosome 12p13
-
Litt M, Kramer P, Browne D, et al. A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am J Hum Genet 1994;55:702-9.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 702-709
-
-
Litt, M.1
Kramer, P.2
Browne, D.3
-
32
-
-
0033797135
-
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
-
Eunson LH, Rea R, Zuberi SM, et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 2000;48:647-56.
-
(2000)
Ann Neurol
, vol.48
, pp. 647-656
-
-
Eunson, L.H.1
Rea, R.2
Zuberi, S.M.3
-
33
-
-
0027292974
-
Seizure characteristics in chromosome 20 benign familial neonatal convulsions
-
Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 1993;43:1355-60.
-
(1993)
Neurology
, vol.43
, pp. 1355-1360
-
-
Ronen, G.M.1
Rosales, T.O.2
Connolly, M.3
Anderson, V.E.4
Leppert, M.5
-
34
-
-
0027359350
-
Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
-
Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993;53:670-5.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 670-675
-
-
Lewis, T.B.1
Leach, R.J.2
Ward, K.3
O'Connell, P.4
Ryan, S.G.5
-
35
-
-
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. Nat Genet 1998;18:25-9.
-
(1998)
Nat Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
-
36
-
-
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. Nat Genet 1998;18:53-5.
-
(1998)
Nat Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
-
38
-
-
0030052699
-
Familial hemiplegic migraine, nystagmus, and cerebellar atrophy
-
Elliott MA, Peroutka SJ, Welch S, May EF. Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. Ann Neurol 1996;39:100-6.
-
(1996)
Ann Neurol
, vol.39
, pp. 100-106
-
-
Elliott, M.A.1
Peroutka, S.J.2
Welch, S.3
May, E.F.4
-
39
-
-
0028963974
-
A gene for cerebellar paroxysmal ataxia maps to chromosome 19p
-
Vahedi K, Joutel A, Van Bogaert P, et al. A gene for cerebellar paroxysmal ataxia maps to chromosome 19p. Ann Neurol 1995;37:289-93.
-
(1995)
Ann Neurol
, vol.37
, pp. 289-293
-
-
Vahedi, K.1
Joutel, A.2
Van Bogaert, P.3
-
40
-
-
0028920029
-
Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p
-
von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 1995;4:279-84.
-
(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
-
41
-
-
0029033627
-
Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13
-
Teh BT, Silburn P, Lindblad K, et al. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Am J Hum Genet 1995;56:1443-9.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1443-1449
-
-
Teh, B.T.1
Silburn, P.2
Lindblad, K.3
-
42
-
-
0031015937
-
Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
-
Baloh RW, Yue Q, Furman JM, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 1997;41:8-16.
-
(1997)
Ann Neurol
, vol.41
, pp. 8-16
-
-
Baloh, R.W.1
Yue, Q.2
Furman, J.M.3
Nelson, S.F.4
-
43
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
44
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
-
Jodice C, Mantuano E, Venziano L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997;6:1973-8.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
Mantuano, E.2
Venziano, L.3
-
45
-
-
8544235014
-
SCA6 is caused by moderate CAG expansion in the alpha] A-voltage-dependent calcium channel gene
-
Riess O, Schols L, Bottger H, et al. SCA6 is caused by moderate CAG expansion in the alpha] A-voltage-dependent calcium channel gene. Hum Mol Genet 1997;6:1289-93.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1289-1293
-
-
Riess, O.1
Schols, L.2
Bottger, H.3
-
46
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-9.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
47
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
-
Skinner PJ, Koshy BT, Cummings CJ, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997;389:971-4.
-
(1997)
Nature
, vol.389
, pp. 971-974
-
-
Skinner, P.J.1
Koshy, B.T.2
Cummings, C.J.3
-
48
-
-
0035426568
-
Regulation of Na + channel distribution in the nervous system
-
Novakovic SD, Eglen RM, Hunter JC. Regulation of Na + channel distribution in the nervous system. Trends Neurosci 2001;24:473-8.
-
(2001)
Trends Neurosci
, vol.24
, pp. 473-478
-
-
Novakovic, S.D.1
Eglen, R.M.2
Hunter, J.C.3
-
49
-
-
0032606082
-
Molecular properties of brain sodium channels: An important target for anticonvulsant drugs
-
Catterall WA. Molecular properties of brain sodium channels: an important target for anticonvulsant drugs. Adv Neurol 1999;79:441-56.
-
(1999)
Adv Neurol
, vol.79
, pp. 441-456
-
-
Catterall, W.A.1
-
50
-
-
0037076493
-
Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
-
Wallace RH, Scheffer IE, Parasivam G, et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002;58:1426-9.
-
(2002)
Neurology
, vol.58
, pp. 1426-1429
-
-
Wallace, R.H.1
Scheffer, I.E.2
Parasivam, G.3
-
51
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
-
Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-90.
-
(1997)
Brain
, vol.120
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
52
-
-
0032953159
-
Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
-
Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999;45:75-81.
-
(1999)
Ann Neurol
, vol.45
, pp. 75-81
-
-
Singh, R.1
Scheffer, I.E.2
Crossland, K.3
Berkovic, S.F.4
-
53
-
-
0034727609
-
Ligand-gated ion channelopathies: Mutations in different genes causing one disease
-
Ptacek LJ. Ligand-gated ion channelopathies: mutations in different genes causing one disease. Neurology 2000;55:1429-30.
-
(2000)
Neurology
, vol.55
, pp. 1429-1430
-
-
Ptacek, L.J.1
-
54
-
-
0028011992
-
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
-
Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994;343:515-7.
-
(1994)
Lancet
, vol.343
, pp. 515-517
-
-
Scheffer, I.E.1
Bhatia, K.P.2
Lopes-Cendes, I.3
-
55
-
-
0028900303
-
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
-
Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995;118:61-73.
-
(1995)
Brain
, vol.118
, pp. 61-73
-
-
Scheffer, I.E.1
Bhatia, K.P.2
Lopes-Cendes, I.3
-
56
-
-
0029045967
-
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
-
Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet 1995;10:117-8.
-
(1995)
Nat Genet
, vol.10
, pp. 117-118
-
-
Phillips, H.A.1
Scheffer, I.E.2
Berkovic, S.F.3
Hollway, G.E.4
Sutherland, G.R.5
Mulley, J.C.6
-
57
-
-
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. Nat Genet 1995;11:201-3.
-
(1995)
Nat Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
-
58
-
-
0036359457
-
Congenital myasthenic syndromes: Genetic defects of the neuromuscular junction
-
Ohno K, Engel AG. Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. Curr Neurol Neurosci Rep 2002;2:78-88.
-
(2002)
Curr Neurol Neurosci Rep
, vol.2
, pp. 78-88
-
-
Ohno, K.1
Engel, A.G.2
-
59
-
-
0031749640
-
Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome
-
Harper CM, Engel AG. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Ann Neurol 1998;43:480-4.
-
(1998)
Ann Neurol
, vol.43
, pp. 480-484
-
-
Harper, C.M.1
Engel, A.G.2
-
60
-
-
0036135172
-
Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms
-
Gomez CM, Maselli RA, Vohra BP, et al. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann Neurol 2002;51:102-12.
-
(2002)
Ann Neurol
, vol.51
, pp. 102-112
-
-
Gomez, C.M.1
Maselli, R.A.2
Vohra, B.P.3
-
61
-
-
0036206747
-
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
-
Ohno K, Engel AG, Shen XM, et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002;70:875-85.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 875-885
-
-
Ohno, K.1
Engel, A.G.2
Shen, X.M.3
-
62
-
-
0036237543
-
A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome
-
Abicht A, Stucka R, Schmidt C, et al. A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome. Brain 2002;125:1005-13.
-
(2002)
Brain
, vol.125
, pp. 1005-1013
-
-
Abicht, A.1
Stucka, R.2
Schmidt, C.3
-
63
-
-
0037168777
-
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation
-
Shen XM, Ohno K, Fukudome T, et al. Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology 2002;59:1881-2.
-
(2002)
Neurology
, vol.59
, pp. 1881-1882
-
-
Shen, X.M.1
Ohno, K.2
Fukudome, T.3
-
64
-
-
0027330927
-
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia
-
Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia. Nat Genet 1993;5:351-8.
-
(1993)
Nat Genet
, vol.5
, pp. 351-358
-
-
Shiang, R.1
Ryan, S.G.2
Zhu, Y.Z.3
Hahn, A.F.4
O'Connell, P.5
Wasmuth, J.J.6
-
65
-
-
0036806404
-
Hyperekplexia: A treatable neurogenetic disease
-
Zhou L, Chillag KL, Nigro MA. Hyperekplexia: a treatable neurogenetic disease. Brain Dev 2002;24:669-74.
-
(2002)
Brain Dev
, vol.24
, pp. 669-674
-
-
Zhou, L.1
Chillag, K.L.2
Nigro, M.A.3
-
66
-
-
0036652637
-
Major and minor form of hereditary hyperekplexia
-
Tijssen MA, Vergouwe MN, van Dijk JG, Rees M, Frants RR, Brown P. Major and minor form of hereditary hyperekplexia. Mov Disord 2002;17:826-30.
-
(2002)
Mov Disord
, vol.17
, pp. 826-830
-
-
Tijssen, M.A.1
Vergouwe, M.N.2
Van Dijk, J.G.3
Rees, M.4
Frants, R.R.5
Brown, P.6
-
67
-
-
0026651547
-
Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
-
Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 1992;31:663-8.
-
(1992)
Ann Neurol
, vol.31
, pp. 663-668
-
-
Ryan, S.G.1
Sherman, S.L.2
Terry, J.C.3
Sparkes, R.S.4
Torres, M.C.5
Mackey, R.W.6
|