Leonie Von Elsner

Carl Neuberg Str. 1
Hannover, NI 30625, Germany

Last Updated: 09/26/2026

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Found 14 publications

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Journal: European journal of human genetics : EJHG

Published: September 11, 2025

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.

Journal: Brain : a journal of neurology

Published: November 23, 2021

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.

Journal: Human mutation

Published: April 07, 2021

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Journal: Brain : a journal of neurology

Published: March 16, 2021

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

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

Journal: European journal of human genetics : EJHG

Published: October 21, 2020

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

Journal: American journal of human genetics

Published: July 31, 2020

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.

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.

Journal: PLoS genetics

Published: July 02, 2019

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

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

Journal: Human mutation

Published: August 15, 2018

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

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

Journal: PLoS genetics

Published: September 12, 2017

Anti-proliferative Effect of C3 Exoenzyme in Fibroblasts is Mediated by c-Jun Phosphorylation.

Anti-proliferative Effect of C3 Exoenzyme in Fibroblasts is Mediated by c-Jun Phosphorylation.

Journal: Journal of molecular signaling

Published: April 03, 2017

C3 exoenzyme impairs cell proliferation and apoptosis by altering the activity of transcription factors.

C3 exoenzyme impairs cell proliferation and apoptosis by altering the activity of transcription factors.

Journal: Naunyn-Schmiedeberg's archives of pharmacology

Published: April 01, 2016

Uptake of clostridium botulinum C3 exoenzyme into intact HT22 and J774A.1 cells.

Uptake of clostridium botulinum C3 exoenzyme into intact HT22 and J774A.1 cells.

Journal: Toxins

Published: December 12, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026