Roberta Zeuli

3PUBLICATIONS
172CO-AUTHORS
Gene mappingNeurology and neuromuscular diseases
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Publications (3)

|Aug 26, 2026
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Dec 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Marianthi Karali, Gema García-García, Karolina Kaminska

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Frequent Collaborators

2 joint publications

Karolina Kaminska

2 joint publications

Francesca Cancellieri

2 joint publications

Margherita Scarpato

2 joint publications

Carlo Rivolta