Search Results - "Stringer, Robin N."

Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.

Authors: Stringer, Robin N. Tang, Xuechen Jurkovicova-Tarabova, Bohumila et al.

Source: Molecular Brain. 3/25/2025, Vol. 18 Issue 1, p1-5. 5p.

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.

Authors: Stringer, Robin N. Jurkovicova-Tarabova, Bohumila Souza, Ivana A. et al.

Source: Molecular Brain. 8/16/2021, Vol. 14 Issue 1, p1-5. 5p.

Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss.

Authors: Stringer, Robin N. Cmarko, Leos Zamponi, Gerald W. et al.

Source: Molecular Brain. 11/18/2023, Vol. 16 Issue 1, p1-5. 5p.

Secretory carrier-associated membrane protein 2 (SCAMP2) regulates cell surface expression of T-type calcium channels.

Authors: Cmarko, Leos Stringer, Robin N. Jurkovicova-Tarabova, Bohumila et al.

Source: Molecular Brain. 1/3/2022, Vol. 15 Issue 1, p1-5. 5p.

Homocysteine enhances the excitability of cultured hippocampal neurons without altering the gene expression of voltage-gated ion channels.

Authors: Filipova, Alzbeta Tomko, Matus Ondacova, Katarina et al.

Source: Molecular Brain. 4/10/2025, Vol. 18 Issue 1, p1-4. 4p.

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity.

Authors: Stringer, Robin N. Jurkovicova-Tarabova, Bohumila Huang, Sun et al.

Source: Molecular Brain. 3/6/2020, Vol. 13 Issue 1, p1-11. 11p.

Pathophysiology of ion channels in amyotrophic lateral sclerosis.

Authors: Stringer, Robin N. Weiss, Norbert

Source: Molecular Brain. 12/15/2023, Vol. 16 Issue 1, p1-17. 17p.

Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia.

Authors: Mustafá, Emilio R. Gambeta, Eder Stringer, Robin N. et al.

Source: Molecular Brain. 11/17/2022, Vol. 15 Issue 1, p1-14. 14p.

Functional identification of potential non-canonical N-glycosylation sites within Cav3.2 T-type calcium channels.

Authors: Ficelova, Vendula Souza, Ivana A. Cmarko, Leos et al.

Source: Molecular Brain. 11/11/2020, Vol. 13 Issue 1, pN.PAG-N.PAG. 1p.