Markus Schuelke

Berlin, BE 10117, Germany

Last Updated: 09/26/2026

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Found 150 publications

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling.

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling.

Journal: Acta neuropathologica communications

Published: April 14, 2026

Stimulation of Adult Muscle Stem Cells with BMPs Results in Direct Activation of Notch Pathway Genes.

Stimulation of Adult Muscle Stem Cells with BMPs Results in Direct Activation of Notch Pathway Genes.

Journal: Cells

Published: March 13, 2026

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.

Journal: EBioMedicine

Published: February 26, 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Journal: European journal of human genetics : EJHG

Published: February 21, 2026

Complement deposition, IgG subtyping and endplate destruction in LRP4-ab-positive myasthenia gravis.

Complement deposition, IgG subtyping and endplate destruction in LRP4-ab-positive myasthenia gravis.

Journal: Acta neuropathologica communications

Published: December 19, 2025

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

Journal: NPJ genomic medicine

Published: November 17, 2025

circVDJ-seq for T cell clonotype detection in single-cell and spatial multi-omics.

circVDJ-seq for T cell clonotype detection in single-cell and spatial multi-omics.

Journal: Genome medicine

Published: September 05, 2025

MicroRNA-29a-5p contributes to neuroinflammation through TLR7.

MicroRNA-29a-5p contributes to neuroinflammation through TLR7.

Journal: Journal of neuroinflammation

Published: July 01, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy.

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy.

Journal: The Journal of physiology

Published: June 17, 2025

3D Electron Microscopic Visualization of Nemaline Rods in a Case of Congenital Myopathy.

3D Electron Microscopic Visualization of Nemaline Rods in a Case of Congenital Myopathy.

Journal: Neurology

Published: May 12, 2025

Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics.

Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics.

Journal: Nature communications

Published: May 10, 2025

Showing 1-12 of 150

Last Updated: 09/26/2026