Paracelsus Medizinische Privatuniversität (PMU)

Research & Innovation
Publications

Autosomal-recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect

#2013
#MITOCHONDRION

PMU Author
Wolfgang Sperl

All Authors
E. Wilichowski, A. Abicht, H. Mayr, R. Horvath, Wolfgang Sperl, J. Gartner

Journal association
MITOCHONDRION

Abstract

To the full text

Latest Publication

#2025
#Abstract

Valentin Fischill-Neudeck, Antje van der Zee-Neuen, Margitta B. Beil-Hildebrand Strengthening Professional Health Literacy: A Theory-Based Approach to Empower Nursing Practice

#2025
#Original Article

Margaux Delporte, Johan Verbeeck, Isabella Brambilla, Georg Zimmermann, Geert Molenberghs, Rima Nabbout, Dravet syndrome, REGISTRY; RARE DISEASES; DRAVET SYNDROME; Natural history;

#2025
#Short comment / notes

J. Koch, K. Steinbruecker, G. Kluger, S. Knasmueller, E. Trinka Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study, EPILEPSY; Drug Resistance; Automated spike detection;

Back to Overview
Paracelsus Medical University (PMU) Research & Innovation Publications
Autosomal-recessive Kearns-Sayre syndrome in a...