-
1
-
-
0026070573
-
The band 3-related anion exchanger (AE) gene family
-
Alper SL. The band 3-related anion exchanger (AE) gene family. [Review]. Annu Rev Physiol 1991; 53: 549-64.
-
(1991)
Annu Rev Physiol
, vol.53
, pp. 549-564
-
-
Alper, S.L.1
-
2
-
-
0030027095
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
-
Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, et al. A gene for autosomal dominant paroxysmal choreoathetosis/ spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 1996; 31: 90-4.
-
(1996)
Genomics
, vol.31
, pp. 90-94
-
-
Auburger, G.1
Ratzlaff, T.2
Lunkes, A.3
Nelles, H.W.4
Leube, B.5
Binkofski, F.6
-
4
-
-
0026325858
-
Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder
-
Byrne E, White O, Cook M. Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder. J Neurol Neurosurg Psychiatry 1991; 54: 1090-2.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 1090-1092
-
-
Byrne, E.1
White, O.2
Cook, M.3
-
5
-
-
0001504349
-
The paroxysmal dyskinesias
-
Marsden CD, Fahn S, editors. Oxford: Butterworth-Heinemann
-
Fahn S. The paroxysmal dyskinesias. In: Marsden CD, Fahn S, editors. Movement disorders 3. Oxford: Butterworth-Heinemann, 1994: 310-45.
-
(1994)
Movement Disorders
, vol.3
, pp. 310-345
-
-
Fahn, S.1
-
6
-
-
0029937084
-
Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q
-
Fink JK, Rainer S, Wilkowski J, Jones SM, Kume A, Hedera P, et al. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am J Hum Genet 1996; 59: 140-5.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 140-145
-
-
Fink, J.K.1
Rainer, S.2
Wilkowski, J.3
Jones, S.M.4
Kume, A.5
Hedera, P.6
-
7
-
-
0000483418
-
Hereditary disorder characterized by attacks of muscular contractions, induced by alcohol amongst other factors
-
Forssman H. Hereditary disorder characterized by attacks of muscular contractions, induced by alcohol amongst other factors. Acta Med Scand 1961; 170: 517-33.
-
(1961)
Acta Med Scand
, vol.170
, pp. 517-533
-
-
Forssman, H.1
-
8
-
-
0029896267
-
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q
-
Fouad GT, Servidei S, Durcan S, Bertini E, Ptácek LJ. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 1996; 59: 135-9.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 135-139
-
-
Fouad, G.T.1
Servidei, S.2
Durcan, S.3
Bertini, E.4
Ptácek, L.J.5
-
9
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993-94 Généthon human genetic linkage map [see comments]. Nat Genet 1994; 7: 246-339. Comment in: Nat Genet 1994; 7(2 Spec No): 219.
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
-
10
-
-
0028298324
-
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993-94 Généthon human genetic linkage map [see comments]. Nat Genet 1994; 7: 246-339. Comment in: Nat Genet 1994; 7(2 Spec No): 219.
-
(1994)
Nat Genet
, vol.7
, Issue.2 SPEC NO
, pp. 219
-
-
-
11
-
-
0024805898
-
Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchanger
-
Kopito RR, Lee BS, Simmons DM, Lindsey AE, Morgans CW, Schneider K. Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchanger. Cell 1989; 59: 927-37.
-
(1989)
Cell
, vol.59
, pp. 927-937
-
-
Kopito, R.R.1
Lee, B.S.2
Simmons, D.M.3
Lindsey, A.E.4
Morgans, C.W.5
Schneider, K.6
-
12
-
-
0020536353
-
Familial paroxysmal dystonic choreoathetosis and response to alternate-day oxazepam therapy
-
Kurlan R, Shoulson I. Familial paroxysmal dystonic choreoathetosis and response to alternate-day oxazepam therapy. Ann Neurol 1983; 13: 456-7.
-
(1983)
Ann Neurol
, vol.13
, pp. 456-457
-
-
Kurlan, R.1
Shoulson, I.2
-
13
-
-
0023529449
-
Familial paroxysmal dystonic choreoathetosis: A family study
-
Kurlan R, Behr J, Medved L, Shoulson I. Familial paroxysmal dystonic choreoathetosis: a family study. Mov Disord 1987; 2: 187-92.
-
(1987)
Mov Disord
, vol.2
, pp. 187-192
-
-
Kurlan, R.1
Behr, J.2
Medved, L.3
Shoulson, I.4
-
14
-
-
0002043533
-
Sporadic and familial varieties of tonic siezures
-
Lance JW. Sporadic and familial varieties of tonic siezures. J Neurol Neurosurg Psychiatry 1963; 26: 51-9.
-
(1963)
J Neurol Neurosurg Psychiatry
, vol.26
, pp. 51-59
-
-
Lance, J.W.1
-
15
-
-
0017616188
-
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes
-
Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977; 2: 285-93.
-
(1977)
Ann Neurol
, vol.2
, pp. 285-293
-
-
Lance, J.W.1
-
17
-
-
0019944947
-
Paroxysmal dystonic choreoathetosis in a patient with familial ataxia
-
Mayeux R, Fahn S. Paroxysmal dystonic choreoathetosis in a patient with familial ataxia. Neurology 1982; 32: 1184-6.
-
(1982)
Neurology
, vol.32
, pp. 1184-1186
-
-
Mayeux, R.1
Fahn, S.2
-
19
-
-
0028240980
-
Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping
-
Reed PW, Davies JL, Copeman JB, Bennett ST, Palmer SM, Pritchard LE, et al. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping [see comments]. Nat Genet 1994; 7: 390-5. Comment in: Nat Genet 1994; 7: 343-4.
-
(1994)
Nat Genet
, vol.7
, pp. 390-395
-
-
Reed, P.W.1
Davies, J.L.2
Copeman, J.B.3
Bennett, S.T.4
Palmer, S.M.5
Pritchard, L.E.6
-
20
-
-
12044249376
-
-
Reed PW, Davies JL, Copeman JB, Bennett ST, Palmer SM, Pritchard LE, et al. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping [see comments]. Nat Genet 1994; 7: 390-5. Comment in: Nat Genet 1994; 7: 343-4.
-
(1994)
Nat Genet
, vol.7
, pp. 343-344
-
-
-
21
-
-
0014282902
-
Paroxysmal dystonic choreoathetosis. a family study and review of the literature
-
Richards RN, Barnett HJ. Paroxysmal dystonic choreoathetosis. A family study and review of the literature. Neurology 1968; 18: 461-9.
-
(1968)
Neurology
, vol.18
, pp. 461-469
-
-
Richards, R.N.1
Barnett, H.J.2
-
22
-
-
0028900303
-
Autosomal dominant nocturnal frontal lobe epilepsy. a distinctive clinical disorder
-
Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, 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
Fish, D.R.4
Marsden, C.D.5
Andermann, E.6
-
23
-
-
0029873565
-
Familial paroxysmal dystonic choreoathetosis revisited
-
Schloesser DT, Ward TN, Williamson PD. Familial paroxysmal dystonic choreoathetosis revisited. Mov Disord 1996; 11: 317-20.
-
(1996)
Mov Disord
, vol.11
, pp. 317-320
-
-
Schloesser, D.T.1
Ward, T.N.2
Williamson, P.D.3
-
24
-
-
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, Wallace RH, Phillips HA, Sutherland GR, 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
Wallace, R.H.4
Phillips, H.A.5
Sutherland, G.R.6
-
25
-
-
0027936269
-
Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36
-
Su YR, Klanke CA, Houseal TW, Linn SC, Burk SE, Varvil TS, et al. Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36. Genomics 1994; 22: 605-9.
-
(1994)
Genomics
, vol.22
, pp. 605-609
-
-
Su, Y.R.1
Klanke, C.A.2
Houseal, T.W.3
Linn, S.C.4
Burk, S.E.5
Varvil, T.S.6
-
26
-
-
0018891795
-
Paroxysmal dystonic choreoathetosis of Mount and Reback
-
Tibbies JA, Barnes SE. Paroxysmal dystonic choreoathetosis of Mount and Reback. Pediatrics 1980; 65: 149-51.
-
(1980)
Pediatrics
, vol.65
, pp. 149-151
-
-
Tibbies, J.A.1
Barnes, S.E.2
-
27
-
-
0014129519
-
Familial paroxysmal dystonia
-
Weber MB. Familial paroxysmal dystonia. J Nerv Ment Dis 1967; 145: 221-6.
-
(1967)
J Nerv Ment Dis
, vol.145
, pp. 221-226
-
-
Weber, M.B.1
|