Research & Innovation
Publications

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.

#2009

#JOURNAL OF MOLECULAR ENDOCRINOLOGY

PMU Authors
Silvia Dossena, Charity Nofziger, Markus Paulmichl

All Authors
Silvia Dossena, Simona Rodighiero, Valeria Vezzoli, Charity Nofziger, Elisabetta Salvioni, Marta Boccazzi, Elisabeth Grabmayer, Guido Bottà, Giuliano Meyer, Laura Fugazzola, Paolo Beck-Peccoz, Markus Paulmichl

Journal association
JOURNAL OF MOLECULAR ENDOCRINOLOGY

Abstract

Keywords

INNER-EAR, VESTIBULAR AQUEDUCT, INTERCALATED CELLS, HEARING-LOSS, IODIDE EFFLUX, INTRAFAMILIAL VARIABILITY, SYNDROME GENE PDS, MOLECULAR ANALYSIS, SPLICE-SITE MUTATION, CONGENITAL DEAFNESS

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;

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Paracelsus Medical University (PMU) Research & Innovation Publications

Functional characterization of wild-type and...