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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13.
Epilepsia. 2022.
PMID: 35718920
Free PMC article.
Review.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M.
Harrer P, et al. Among authors: warde ma.
Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18.
Ann Neurol. 2023.
PMID: 36333996
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Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Krebs-Drouot L, Schalk A, Schaefer E, Keyser C, Gonzalez A, Calmels N, Wardé MA, Oertel L, Acquaviva CÉ, Mandel JL, Farrugia A.
Krebs-Drouot L, et al. Among authors: warde ma.
Forensic Sci Int Genet. 2024 Mar 2;71:103028. doi: 10.1016/j.fsigen.2024.103028. Online ahead of print.
Forensic Sci Int Genet. 2024.
PMID: 38518711
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