Leonie von Elsner

The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham et al. · Human Mutation · 2018 · 69 citations · Full text

Genetics, Molecular Biology, Pathology +20

Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy

Shehrazade Dahimène, Leonie von Elsner, Tess Holling et al. · Brain · 2022 · 39 citations · Full text

Brain Development, Genetics, Synaptic Transmission +16

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

Uta Meyer zum Büschenfelde, Laura Brandenstein, Leonie von Elsner et al. · PLoS Genetics · 2018 · 38 citations · Full text

Rho Gtpases Cdc42, Molecular Regulation, Molecular Biology +22

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

Pierre Costé de Bagneaux, Leonie von Elsner, Tatjana Bierhals et al. · PLoS Genetics · 2020 · 34 citations · Full text

Genetics, Synaptic Transmission, Neurotransmitter +29

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

Karen Knapp, Danielle Jenkins, Rosie Sullivan et al. · European Journal of Human Genetics · 2021 · 25 citations · Full text

Meier-gorlin Syndrome, Molecular Physiology, Autoimmune Disease +6