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Year Number of Results
2018 3
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2020 3
2021 3
2022 1
2024 0

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Page 1
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y, Schneeberger PE, Fernández-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE. El Ghaleb Y, et al. Brain. 2021 Aug 17;144(7):2092-2106. doi: 10.1093/brain/awab101. Brain. 2021. PMID: 33704440 Free PMC article.
Skeletal muscle CaV1.1 channelopathies.
Flucher BE. Flucher BE. Pflugers Arch. 2020 Jul;472(7):739-754. doi: 10.1007/s00424-020-02368-3. Epub 2020 Mar 28. Pflugers Arch. 2020. PMID: 32222817 Free PMC article. Review.
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair GJ, Hempel M, Flucher BE, Kutsche K. Coste de Bagneaux P, et al. PLoS Genet. 2020 Mar 16;16(3):e1008625. doi: 10.1371/journal.pgen.1008625. eCollection 2020 Mar. PLoS Genet. 2020. PMID: 32176688 Free PMC article.
Calcium current modulation by the γ1 subunit depends on alternative splicing of CaV1.1.
El Ghaleb Y, Ortner NJ, Posch W, Fernández-Quintero ML, Tuinte WE, Monteleone S, Draheim HJ, Liedl KR, Wilflingseder D, Striessnig J, Tuluc P, Flucher BE, Campiglio M. El Ghaleb Y, et al. J Gen Physiol. 2022 Sep 5;154(9):e202113028. doi: 10.1085/jgp.202113028. Epub 2022 Mar 29. J Gen Physiol. 2022. PMID: 35349630 Free PMC article.
11 results