Simone Schimpf‐Linzenbold

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

Tanja Grau, Lena F. Burbulla, Gertraud Engl et al. · Journal of Medical Genetics · 2013 · 39 citations · Full text

Dominant<i>ACO2</i>mutations are a frequent cause of isolated optic atrophy

Majida Charif, Naïg Guéguen, Marc Ferré et al. · Brain Communications · 2021 · 36 citations · Full text

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 et al. · PLoS ONE · 2021 · 35 citations · Full text

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

Pablo Llavona, Michele Pinelli, Margherita Mutarelli et al. · Genes · 2017 · 27 citations · Full text

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

Marie Anne‐Catherine Neumann, Simone Schimpf‐Linzenbold, Dana Dayan et al. · Scientific Reports · 2020 · 21 citations · Full text