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C. Kornblum

University of Bonn

112

Papers

1977

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CONGENITAL MYOPATHIES – CENTRONUCLEAR MYOPATHIES

2021 Neuromuscular Disorders
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NEW GENES IN NEUROMUSCULAR DISEASES

2020 Neuromuscular Disorders
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Die heterozygote R155C VCP Mutation: Toxisch bei Menschen. Harmlos in der Maus.

2019
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Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study

2019 PLOS ONE
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EP.03Mevalonate kinase deficiency - a mimic of mitochondrial myopathy in clinic and muscle biopsy

2019 Neuromuscular Disorders
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Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier

2019 Seizure-european Journal of Epilepsy
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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

2018 Journal of Clinical Investigation
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MITOCHONDRIAL DISEASES (Posters)

2018 Neuromuscular Disorders
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mineRARE: Semantic text-mining of electronic medical records as diagnostic decision support tool to search for rare neurologic diseases such as Pompe disease, Fabry disease and Niemann-Pick type C disease

2017 European Journal of Neurology
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A two part, multi-centre, multiple dose study of Erythrocyte Encapsulated Thymidine Phosphorylase (EETP) in patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

2017 Neuromuscular Disorders
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