Publications by authors named "E Andermann"

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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Shyam K Akula, Allen Y Chen, Jennifer E Neil, Diane D Shao, Alisa Mo, Eva Andermann

JAMA Neurol· September 2023

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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabińska, Eva Andermann

Am J Hum Genet· April 2021

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Comparative analysis of the safety and tolerability of eslicarbazepine acetate in older (≥60 years) and younger (18-59 years) adults.
Eva Andermann, William Rosenfeld, Patricia Penovich, Joanne Rogin, Fernando Cendes

Epilepsy Res· January 2021

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Ivana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, Viktor Stránecký, Hana Hartmannová, Eva Andermann, Frederick Andermann

Eur J Hum Genet· June 2020

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Duplication 2p16 is associated with perisylvian polymicrogyria.
Dina Amrom, Annapurna Poduri, Jennifer S Goldman, Bernard Dan, Nicolas Deconinck, Frederick Andermann, Eva Andermann

Am J Med Genet A· December 2019

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