Carolin D. Obermaier

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 11 publications

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Journal: Human genetics

Published: February 10, 2026

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Journal: Brain : a journal of neurology

Published: June 08, 2024

Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis.

Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: December 09, 2022

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.

Journal: Neurological research and practice

Published: November 10, 2021

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Journal: International journal of molecular sciences

Published: May 19, 2021

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.

Journal: Human mutation

Published: January 13, 2020

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Journal: Molecular biology reports

Published: March 07, 2019

A case of X-linked retinoschisis with atypical fundus appearance.

A case of X-linked retinoschisis with atypical fundus appearance.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: February 20, 2019

Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.

Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: October 25, 2018

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.

Journal: Science translational medicine

Published: June 06, 2018

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.

Journal: Science (New York, N.Y.)

Published: February 07, 2017

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Last Updated: 09/26/2026