Johannes Adalbert Mayr

32PUBLICATIONS
304CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)Nutrigenomics and personalised nutritionMedical biochemistry - lipidsPacific Peoples midwifery and paediatrics
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Publications (32)

|Jul 06, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

|Dec 30, 2025
Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice.

Vera E A Kleinveld, Julia Wanschitz, Anna Hotter

|Oct 20, 2025
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence.

Jennifer Kahlhofer, Nikolas Marchet, Kristian Zubak

|May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Nicole Hammann, Christian Staufner, Lea Dewi Schlieben

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

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Frequent Collaborators

18 joint publications

René Günther Feichtinger

8 joint publications

Saskia Wortmann

5 joint publications

Holger Prokisch

5 joint publications

Barbara Kofler