Markus Schuelke

Professor

Charité - Universitätsmedizin Berlin

Germany

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Articles (10)

Year:

2023

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2023

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2023

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2022

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2022

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2021

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2021

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2021

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2021

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2021

Collaborators (3)

Marie-Thérèse Henke

Charité - Universitätsmedizin Berlin

GERMANY

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Atbin Djamshidian

Medical University of Innsbruck

AUSTRIA

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Jakob Kreye

GERMANY

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Markus Schuelke

Research Interests

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Articles (10)

Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis

Generation of two mother–child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations

Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason

Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

MutationTaster2021

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2

Collaborators (3)

Marie-Thérèse Henke

Atbin Djamshidian

Jakob Kreye

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