Simone Linzenbold-Schimpf

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 8 publications

The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa.

The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa.

Journal: Ophthalmic genetics
Published: June 02, 2022

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.

Journal: Brain communications
Published: February 11, 2021

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

Journal: PloS one
Published: February 02, 2021

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.

Journal: Acta ophthalmologica
Published: December 13, 2020

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.

Journal: Scientific reports
Published: November 11, 2019

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.

Journal: BMC medical genetics
Published: October 09, 2018

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

Journal: Genes
Published: June 30, 2017

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

Journal: Journal of medical genetics
Published: October 19, 2013
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Last Updated: 09/26/2026