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Emanuele Bernardinelli

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Wissenschaftlicher Mitarbeiter

University of Salzburg

Austria

Research Interests

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Genetic and molecular analysis of patients with hearing loss and enlarged vestibular aqueduct (EVA) in an austrian cohort

Open Date: 2017-11-01

Close Date: 2020-01-01

Articles (6)

Year:

2026

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2023

Collaborators (5)

Silvia Dossena

Paracelsus Medical University

AUSTRIA

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Konstantina M. Stankovic

Professor and Chair

Stanford University School of Medicine

UNITED STATES

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Sebastian Roesch

University Hospital Regensburg

GERMANY

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Laura Astolfi

Associate Professor

University of Padua

ITALY

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Daniela Gasperikova

SLOVAKIA

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Emanuele Bernardinelli

Research Interests

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Recent Grants

Articles (6)

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct

Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants.

Editorial: Pathobiological defects in sensorineural hearing loss: from identification to rescue

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review

Collaborators (5)

Silvia Dossena

Konstantina M. Stankovic

Sebastian Roesch

Laura Astolfi

Daniela Gasperikova

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