Aida Maria Bertoli-Avella

33PUBLICATIONS
226CO-AUTHORS
Neurology and neuromuscular diseasesMedical infection agents (incl. prions)NeurogeneticsVision scienceGene expression (incl. microarray and other genome-wide approaches)
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Publications (33)

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Oct 07, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Luba M Pardo, Javier Martini, Emir Zonic

|May 24, 2025
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity.

Aida M Bertoli-Avella, Christian A Ganoza, Mariana Ferreira

|Mar 05, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Sophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi

|Jan 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.

Aida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali

|Oct 26, 2024
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.

Sabine Rösner, Luba M Pardo, Aida M Bertoli-Avella

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Frequent Collaborators

18 joint publications

Peter Bauer

6 joint publications

Christian Beetz

5 joint publications

Alexis Brice

5 joint publications

Hermann Steller