Publications by authors named "Simone Schimpf-Linzenbold"

Claim this Profile
T
The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa.
Nataša Mihailovic, Simone Schimpf-Linzenbold, Inga Sattler, Nicole Eter, Peter Heiduschka

Ophthalmic Genet· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Katarzyna Nowomiejska, Fadi Nasser, Katarina Stingl, Simone Schimpf-Linzenbold, Saskia Biskup

Acta Ophthalmol· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao

PLoS One· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Dominant mutations are a frequent cause of isolated optic atrophy.
Majida Charif, Naïg Gueguen, Marc Ferré, Zouhair Elkarhat, Salim Khiati, Simone Schimpf-Linzenbold

Brain Commun· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Marie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, Dana Dayan, Katarina Stingl

Sci Rep· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf

BMC Med Genet· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.
Pablo Llavona, Michele Pinelli, Margherita Mutarelli, Veer Singh Marwah, Simone Schimpf-Linzenbold

Genes (Basel)· October 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
Tanja Grau, Lena F Burbulla, Gertraud Engl, Cécile Delettre, Benjamin Delprat, Simone Schimpf-Linzenbold

J Med Genet· December 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis