Luisa Averdunk

8PUBLICATIONS
38CO-AUTHORS
Medical infection agents (incl. prions)Clinical nutritionCardiology (incl. cardiovascular diseases)Epigenetics (incl. genome methylation and epigenomics)Tribology
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Publications (8)

|Oct 14, 2026
Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

|Oct 12, 2026
Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

|Sep 17, 2023
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.

Luisa Averdunk, Eva Thimm, Dirk Klee

|Dec 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

Luisa Averdunk, Khalid Al-Thihli, Harald Surowy

|May 23, 2022
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.

Luisa Averdunk, Sandra Donkervoort, Denise Horn

|Sep 16, 2020
The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery.

Luisa Averdunk, Jürgen Bernhagen, Karl Fehnle

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Frequent Collaborators

4 joint publications

Felix Distelmaier

2 joint publications

Jürgen Bernhagen

2 joint publications

Christian Stoppe

1 joint publications

Juliane Bremer