Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp

por Souza, Ivana A., Gandini, Maria A., Zamponi, Gerald W.
Publicado 2021

A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels

por Gambeta, Eder, Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Zamponi, Gerald W.
Publicado 2021

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

por Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Innes, A. Micheil, Zamponi, Gerald W.
Publicado 2021

Interactions of Rabconnectin-3 with Cav2 calcium channels

por Gandini, Maria A., Souza, Ivana A., Fan, Jing, Li, Katherine, Wang, Decheng, Zamponi, Gerald W.
Publicado 2019

Differential regulation of Cav2.2 channel exon 37 variants by alternatively spliced μ-opioid receptors

por Gandini, Maria A., Souza, Ivana A., Raval, Dvij, Xu, Jin, Pan, Ying-Xian, Zamponi, Gerald W.
Publicado 2019

Functional Expression of T-Type Ca(2+) Channels in Spinal Motoneurons of the Adult Turtle

por Canto-Bustos, Martha, Loeza-Alcocer, Emanuel, González-Ramírez, Ricardo, Gandini, María A., Delgado-Lezama, Rodolfo, Felix, Ricardo
Publicado 2014

Functional identification of potential non-canonical N-glycosylation sites within Ca(v)3.2 T-type calcium channels

por Ficelova, Vendula, Souza, Ivana A., Cmarko, Leos, Gandini, Maria A., Stringer, Robin N., Zamponi, Gerald W., Weiss, Norbert
Publicado 2020

Reduced Hyperpolarization-Activated Current Contributes to Enhanced Intrinsic Excitability in Cultured Hippocampal Neurons from PrP(−/−) Mice

por Fan, Jing, Stemkowski, Patrick L., Gandini, Maria A., Black, Stefanie A., Zhang, Zizhen, Souza, Ivana A., Chen, Lina, Zamponi, Gerald W.
Publicado 2016

Cav3.2 calcium channel interactions with the epithelial sodium channel ENaC

por Garcia-Caballero, Agustin, Gandini, Maria A., Huang, Shuo, Chen, Lina, Souza, Ivana A., Dang, Yan L., Stutts, M. Jackson, Zamponi, Gerald W.
Publicado 2019

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

por Souza, Ivana A., Gandini, Maria A., Zhang, Fang-Xiong, Mitchell, Wendy G., Matsumoto, Joyce, Lerner, Jason, Pierson, Tyler Mark, Zamponi, Gerald W.
Publicado 2019

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

por Huang, Miaozhen, Nibbeling, Esther A. R., Lagrand, Tjerk J., Souza, Ivana A., Groen, Justus L., Gandini, Maria A., Zhang, Fang-Xiong, Koelman, Johannes H. T. M., Adir, Noam, Sinke, Richard J., Zamponi, Gerald W., Tijssen, Marina A. J., Verbeek, Dineke S.
Publicado 2021