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Results: 1-19 |
Results: 19
Evolutionarily conserved noncoding DNA in the human genome: How much and what for?
Authors: Meisler, MH
Citation: Mh. Meisler, Evolutionarily conserved noncoding DNA in the human genome: How much and what for?, GENOME RES, 11(10), 2001, pp. 1617-1618
DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression pattern and genomic sequence comparison of the human and mouse genes
Authors: Ji, WZ Chen, F Do, T Do, A Roe, BA Meisler, MH
Citation: Wz. Ji et al., DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression pattern and genomic sequence comparison of the human and mouse genes, MAMM GENOME, 12(6), 2001, pp. 456-461
A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities
Authors: Kearney, JA Plummer, NW Smith, MR Kapur, J Cummins, TR Waxman, SG Goldin, AL Meisler, MH
Citation: Ja. Kearney et al., A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities, NEUROSCIENC, 102(2), 2001, pp. 307-317
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
Authors: Spampanato, J Escayg, A Meisler, MH Goldin, AL
Citation: J. Spampanato et al., Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2, J NEUROSC, 21(19), 2001, pp. 7481-7490
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate
Authors: Reid, E Escayg, A Dearlove, AM Lee, DD Meisler, MH Rubinsztein, DC
Citation: E. Reid et al., The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate, J MED GENET, 38(1), 2001, pp. 65-67
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy
Authors: Escayg, A Heils, A MacDonald, BT Haug, K Sander, T Meisler, MH
Citation: A. Escayg et al., A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy, AM J HU GEN, 68(4), 2001, pp. 866-873
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Authors: Escayg, A MacDonald, BT Meisler, MH Baulac, S Huberfeld, G An-Gourfinkel, I Brice, A LeGuern, E Moulard, B Chaigne, D Buresi, C Malafosse, A
Citation: A. Escayg et al., Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2, NAT GENET, 24(4), 2000, pp. 343-345
The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a
Authors: Jones, JM Huang, JD Mermall, V Hamilton, BA Mooseker, MS Escayg, A Copeland, NG Jenkins, NA Meisler, MH
Citation: Jm. Jones et al., The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a, HUM MOL GEN, 9(5), 2000, pp. 821-828
Nomenclature of voltage-gated sodium channels
Authors: Goldin, AL Barchi, RL Caldwell, JH Hofmann, F Howe, JR Hunter, JC Kallen, RG Mandel, G Meisler, MH Netter, YB Noda, M Tamkun, MM Waxman, SG Wood, JN Catterall, WA
Citation: Al. Goldin et al., Nomenclature of voltage-gated sodium channels, NEURON, 28(2), 2000, pp. 365-368
Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodicataxia
Authors: Escayg, A De Waard, M Lee, DD Bichet, D Wolf, P Mayer, T Johnston, J Baloh, R Sander, T Meisler, MH
Citation: A. Escayg et al., Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodicataxia, AM J HU GEN, 66(5), 2000, pp. 1531-1539
Comparative sequence of human and mouse BAC clones from the mnd2 region ofchromosome 2p13
Authors: Jang, W Hua, AI Spilson, SV Miller, W Roe, BA Meisler, MH
Citation: W. Jang et al., Comparative sequence of human and mouse BAC clones from the mnd2 region ofchromosome 2p13, GENOME RES, 9(1), 1999, pp. 53-61
Dystonia associated with mutation of the neuronal sodium channel Scn8a andidentification of the modifier locus Scnm1 on mouse chromosome 3
Authors: Sprunger, LK Escayg, A Tallaksen-Greene, S Albin, RL Meisler, MH
Citation: Lk. Sprunger et al., Dystonia associated with mutation of the neuronal sodium channel Scn8a andidentification of the modifier locus Scnm1 on mouse chromosome 3, HUM MOL GEN, 8(3), 1999, pp. 471-479
Identification of genes within the Krd deletion on mouse chromosome 19
Authors: Ji, WZ Herron, B Jones, JM Jenkins, NA Gilbert, DJ Copeland, NG Swank, R Flaherty, L Meisler, MH
Citation: Wz. Ji et al., Identification of genes within the Krd deletion on mouse chromosome 19, MAMM GENOME, 10(4), 1999, pp. 399-401
Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome
Authors: Lu, W Phillips, CL Killen, PD Hlaing, T Harrison, WR Elder, FFB Miner, JH Overbeek, PA Meisler, MH
Citation: W. Lu et al., Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome, GENOMICS, 61(2), 1999, pp. 113-124
Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN
Authors: Dib-Hajj, SD Tyrrell, L Escayg, A Wood, PM Meisler, MH Waxman, SG
Citation: Sd. Dib-hajj et al., Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN, GENOMICS, 59(3), 1999, pp. 309-318
Evolution and diversity of mammalian sodium channel genes
Authors: Plummer, NW Meisler, MH
Citation: Nw. Plummer et Mh. Meisler, Evolution and diversity of mammalian sodium channel genes, GENOMICS, 57(2), 1999, pp. 323-331
Optic, olfactory, and vestibular dysmorphogenesis in the homozygous mouse insertional mutant Tg9257
Authors: Griffith, AJ Ji, WZ Prince, ME Altschuler, RA Meisler, MH
Citation: Aj. Griffith et al., Optic, olfactory, and vestibular dysmorphogenesis in the homozygous mouse insertional mutant Tg9257, J CRAN GENE, 19(3), 1999, pp. 157-163
Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice
Authors: Chen, K Sprunger, LK Meisler, MH Waller, HJ Godfrey, DA
Citation: K. Chen et al., Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice, BRAIN RES, 847(1), 1999, pp. 85-89
Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A
Authors: Plummer, NW Galt, J Jones, JM Burgess, DL Sprunger, LK Kohrman, DC Meisler, MH
Citation: Nw. Plummer et al., Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A, GENOMICS, 54(2), 1998, pp. 287-296
Risultati: 1-19 |