Clinical and neurophysiological phenotypes in neonates with BRAT1 encephalopathy
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Neurology - ISSN 0028-3878- (2023) p. 1-17
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
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Molecular psychiatry - ISSN 1359-4184-28 (2023) p. 668-697
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
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Brain - ISSN 0006-8950- (2022) p. 1-28
KCNQ2- and KCNQ3-associated epilepsy
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Cambridge, Cambridge University Press, 2022,99 p.
Current practice in diagnostic genetic testing of the epilepsies
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Epileptic disorders - ISSN 1294-9361-24:5 (2022) p. 765-786