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Results: 1-25 | 26-26
Results: 1-25/26
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7
Authors: La Spada, AR Fu, YH Sopher, BL Libby, RT Wang, XJ Li, LY Einum, DD Huang, J Possin, DE Smith, AC Martinez, RA Koszdin, KL Treuting, PM Ware, CB Hurley, JB Ptacek, LJ Chen, SM
Citation: Ar. La Spada et al., Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7, NEURON, 31(6), 2001, pp. 913-927
A novel gene causing a mendelian audiogenic mouse epilepsy
Authors: Skradski, SL Clark, AM Jiang, HM White, HS Fu, YH Ptacek, LJ
Citation: Sl. Skradski et al., A novel gene causing a mendelian audiogenic mouse epilepsy, NEURON, 31(4), 2001, pp. 537-544
Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12
Authors: Tammur, J Prades, C Arnould, I Rzhetsky, A Hutchinson, A Adachi, M Schuetz, JD Swoboda, KJ Ptacek, LJ Rosier, M Dean, M Allikmets, R
Citation: J. Tammur et al., Two new genes from the human ATP-binding cassette transporter superfamily,ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12, GENE, 273(1), 2001, pp. 89-96
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis
Authors: Bendahhou, S Cummins, TR Griggs, RC Fu, YH Ptacek, LJ
Citation: S. Bendahhou et al., Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis, ANN NEUROL, 50(3), 2001, pp. 417-420
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
Authors: Plaster, NM Tawil, R Tristani-Firouzi, M Canun, S Bendahhou, S Tsunoda, A Donaldson, MR Iannaccone, ST Brunt, E Barohn, R Clark, J Deymeer, F George, AL Fish, FA Hahn, A Nitu, A Ozdemir, C Serdaroglu, P Subramony, SH Wolfe, G Fu, YH Ptacek, LJ
Citation: Nm. Plaster et al., Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome, CELL, 105(4), 2001, pp. 511-519
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis
Authors: Abbott, GW Butler, MH Bendahhou, S Dalakas, MC Ptacek, LJ Goldstein, SAN
Citation: Gw. Abbott et al., MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis, CELL, 104(2), 2001, pp. 217-231
An hPer2 phosphorylation site mutation in familiar advanced sleep phase syndrome
Authors: Toh, KL Jones, CR He, Y Eide, EJ Hinz, WA Virshup, DM Ptacek, LJ Fu, YH
Citation: Kl. Toh et al., An hPer2 phosphorylation site mutation in familiar advanced sleep phase syndrome, SCIENCE, 291(5506), 2001, pp. 1040-1043
Channelopathies: Episodic disorders of the nervous system
Authors: Ptacek, LJ Fu, YH
Citation: Lj. Ptacek et Yh. Fu, Channelopathies: Episodic disorders of the nervous system, EPILEPSIA, 42, 2001, pp. 35-43
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31
Authors: Coffeen, CM McKenna, CE Koeppen, AH Plaster, NM Maragakis, N Mihalopoulos, J Schwankhaus, JD Flanigang, KM Gregg, RG Ptacek, LJ Fu, YH
Citation: Cm. Coffeen et al., Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31, HUM MOL GEN, 9(5), 2000, pp. 787-793
Episodic movement disorders as channelopathies
Authors: Bhatia, KP Griggs, RC Ptacek, LJ
Citation: Kp. Bhatia et al., Episodic movement disorders as channelopathies, MOVEMENT D, 15(3), 2000, pp. 429-433
Randomized trials of dichlorphenamide in the periodic paralyses
Authors: Tawil, R McDermott, MP Brown, R Shapiro, BC Ptacek, LJ McManis, PG Dalakas, MC Spector, SA Mendell, JR Hahn, AF Griggs, RC
Citation: R. Tawil et al., Randomized trials of dichlorphenamide in the periodic paralyses, ANN NEUROL, 47(1), 2000, pp. 46-53
D-penicillamine in the neonatal period: possible beneficial effects on theAIDS associated infant mortality rate
Authors: Waxman, SG Ptacek, LJ
Citation: Sg. Waxman et Lj. Ptacek, D-penicillamine in the neonatal period: possible beneficial effects on theAIDS associated infant mortality rate, MED HYPOTH, 55(5), 2000, pp. 457-457
Paroxysmal kinesigenic dyskinesia and infantile convulsions - Clinical andlinkage studies
Authors: Swoboda, KJ Soong, BW McKenna, C Brunt, ERP Litt, M Bale, JF Ashizawa, T Bennett, LB Bowcock, AM Roach, ES Gerson, D Matsuura, T Heydemann, PT Nespeca, MP Jankovic, J Leppert, M Ptacek, LJ
Citation: Kj. Swoboda et al., Paroxysmal kinesigenic dyskinesia and infantile convulsions - Clinical andlinkage studies, NEUROLOGY, 55(2), 2000, pp. 224-230
Ligand-gated ion channelopathies - Mutations in different genes causing one disease
Authors: Ptacek, LJ
Citation: Lj. Ptacek, Ligand-gated ion channelopathies - Mutations in different genes causing one disease, NEUROLOGY, 55(10), 2000, pp. 1429-1430
Functional consequences of chloride channel gene (CLCN1) mutations causingmyotonia congenita
Authors: Zhang, J Bendahhou, S Sanguinetti, MC Ptacek, LJ
Citation: J. Zhang et al., Functional consequences of chloride channel gene (CLCN1) mutations causingmyotonia congenita, NEUROLOGY, 54(4), 2000, pp. 937-942
A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
Authors: Bendahhou, S Cummins, TR Hahn, AF Langlois, S Waxman, SG Ptacek, LJ
Citation: S. Bendahhou et al., A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation, J CLIN INV, 106(3), 2000, pp. 431-438
Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation
Authors: Zhang, J Sanguinetti, MC Kwiecinski, H Ptacek, LJ
Citation: J. Zhang et al., Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation, J BIOL CHEM, 275(4), 2000, pp. 2999-3005
Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans
Authors: Jones, CR Campbell, SS Zone, SE Cooper, F DeSano, A Murphy, PJ Jones, B Czajkowski, L Ptacek, LJ
Citation: Cr. Jones et al., Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans, NAT MED, 5(9), 1999, pp. 1062-1065
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23
Authors: Boyadjiev, SA Jabs, EW LaBuda, M Jamal, JE Torbergsen, T Ptacek, LJ Rogers, RC Nyberg-Hansen, R Opjordsmoen, S Zeller, CB Stine, OC Stalker, HJ Zori, RT Shapiro, RE
Citation: Sa. Boyadjiev et al., Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23, GENOMICS, 58(1), 1999, pp. 34-40
Ion channel diseases: Episodic disorders of the nervous system
Authors: Ptacek, LJ
Citation: Lj. Ptacek, Ion channel diseases: Episodic disorders of the nervous system, SEM NEUROL, 19(4), 1999, pp. 363-369
Activation and inactivation of the voltage-gated sodium channel: Role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation
Authors: Bendahhou, S Cummins, TR Tawil, R Waxman, SG Ptacek, LJ
Citation: S. Bendahhou et al., Activation and inactivation of the voltage-gated sodium channel: Role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation, J NEUROSC, 19(12), 1999, pp. 4762-4771
Channelopathies - Ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
Authors: Ptacek, LJ
Citation: Lj. Ptacek, Channelopathies - Ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system, DIG DIS SCI, 44(8), 1999, pp. 94S-96S
Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24
Authors: Plaster, NM Uyama, E Uchino, M Ikeda, T Flanigan, KM Kondo, I Ptacek, LJ
Citation: Nm. Plaster et al., Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24, NEUROLOGY, 53(6), 1999, pp. 1180-1183
Mutations of sodium channels in periodic paralysis - Can they explain the disease and predict treatment?
Authors: Griggs, RC Ptacek, LJ
Citation: Rc. Griggs et Lj. Ptacek, Mutations of sodium channels in periodic paralysis - Can they explain the disease and predict treatment?, NEUROLOGY, 52(7), 1999, pp. 1309-1310
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia, congenita in humans
Authors: Bendahhou, S Cummins, TR Kwiecinski, H Waxman, SG Ptacek, LJ
Citation: S. Bendahhou et al., Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia, congenita in humans, J PHYSL LON, 518(2), 1999, pp. 337-344
Risultati: 1-25 | 26-26