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The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ, Sah A, Paradiso E, Shin J, Stojanovic S, Hammer N, Haritonova M, Hofer NT, Marcantoni A, Guarina L, Tuluc P, Theiner T, Pitterl F, Ebner K, Oberacher H, Carbone E, Stefanova N, Ferraguti F, Singewald N, Roeper J, Striessnig J. Ortner NJ, et al. Among authors: striessnig j. JCI Insight. 2023 Oct 23;8(20):e162100. doi: 10.1172/jci.insight.162100. JCI Insight. 2023. PMID: 37698939 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 36782459
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F, Von Moers A, Bittigau P, Lange J, Wiegand S, Török F, Stölting G, Striessnig J, Motazacker MM, Broekema MF, Schuelke M, Kaindl AM, Scholl UI, Ortner NJ. Dannenberg F, et al. Among authors: striessnig j. Neurol Genet. 2024 Sep 6;10(5):e200186. doi: 10.1212/NXG.0000000000200186. eCollection 2024 Oct. Neurol Genet. 2024. PMID: 39246741 Free PMC article.
The Concise Guide to PHARMACOLOGY 2023/24: Introduction and Other Protein Targets.
Alexander SPH, Kelly E, Mathie AA, Peters JA, Veale EL, Armstrong JF, Buneman OP, Faccenda E, Harding SD, Spedding M, Cidlowski JA, Fabbro D, Davenport AP, Striessnig J, Davies JA, Ahlers-Dannen KE, Alqinyah M, Arumugam TV, Bodle C, Dagner JB, Chakravarti B, Choudhuri SP, Druey KM, Fisher RA, Gerber KJ, Hepler JR, Hooks SB, Kantheti HS, Karaj B, Layeghi-Ghalehsoukhteh S, Lee JK, Luo Z, Martemyanov K, Mascarenhas LD, McNabb H, Montañez-Miranda C, Ogujiofor O, Phan H, Roman DL, Shaw V, Sjogren B, Sobey C, Spicer MM, Squires KE, Sutton L, Wendimu M, Wilkie T, Xie K, Zhang Q, Zolghadri Y. Alexander SPH, et al. Among authors: striessnig j. Br J Pharmacol. 2023 Oct;180 Suppl 2:S1-S22. doi: 10.1111/bph.16176. Br J Pharmacol. 2023. PMID: 38123153 Free article. Review.
The Concise Guide to PHARMACOLOGY 2023/24: Ion channels.
Alexander SPH, Mathie AA, Peters JA, Veale EL, Striessnig J, Kelly E, Armstrong JF, Faccenda E, Harding SD, Davies JA, Aldrich RW, Attali B, Baggetta AM, Becirovic E, Biel M, Bill RM, Caceres AI, Catterall WA, Conner AC, Davies P, De Clerq K, Delling M, Di Virgilio F, Falzoni S, Fenske S, Fortuny-Gomez A, Fountain S, George C, Goldstein SAN, Grimm C, Grissmer S, Ha K, Hammelmann V, Hanukoglu I, Hu M, Ijzerman AP, Jabba SV, Jarvis M, Jensen AA, Jordt SE, Kaczmarek LK, Kellenberger S, Kennedy C, King B, Kitchen P, Liu Q, Lynch JW, Meades J, Mehlfeld V, Nicke A, Offermanns S, Perez-Reyes E, Plant LD, Rash L, Ren D, Salman MM, Sieghart W, Sivilotti LG, Smart TG, Snutch TP, Tian J, Trimmer JS, Van den Eynde C, Vriens J, Wei AD, Winn BT, Wulff H, Xu H, Yang F, Fang W, Yue L, Zhang X, Zhu M. Alexander SPH, et al. Among authors: striessnig j. Br J Pharmacol. 2023 Oct;180 Suppl 2(Suppl 2):S145-S222. doi: 10.1111/bph.16178. Br J Pharmacol. 2023. PMID: 38123150 Free PMC article.
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.
Rinné S, Stallmeyer B, Pinggera A, Netter MF, Matschke LA, Dittmann S, Kirchhefer U, Neudorf U, Opp J, Striessnig J, Decher N, Schulze-Bahr E. Rinné S, et al. Among authors: striessnig j. Int J Mol Sci. 2022 Nov 17;23(22):14215. doi: 10.3390/ijms232214215. Int J Mol Sci. 2022. PMID: 36430690 Free PMC article.
210 results