Simone Schimpf‐Linzenbold

Author

Also Known As

Simone Schimpf-Linzenbold, Simone Schimpf‐Linzenbold

Publications

182

Citations

H-Index

Concepts

All Affiliations

Simone Schimpf‐Linzenbold is an author at STZ eyetrial.

Simone Schimpf‐Linzenbold

Publications

171

Citations

H-Index

Page 1

	Year	Citations
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, Journal of Medical Genetics	2013	39
Dominant<i>ACO2</i>mutations are a frequent cause of isolated optic atrophy Majida Charif, Naïg Guéguen, Marc Ferré, Brain Communications	2021	36
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, PLoS ONE	2021	35
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases Pablo Llavona, Michele Pinelli, Margherita Mutarelli, Genes	2017	27
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, Scientific Reports	2020	21
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports Katja Kloth, Matthis Synofzik, Christoph Kernstock, BMC Medical Genetics	2019	13

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