Paolo Prontera

8PUBLICATIONS
101CO-AUTHORS
Animal protection (incl. pests and pathogens)Liquid biopsiesDevelopmental genetics (incl. sex determination)Aerospace structuresMedical infection agents (incl. prions)
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Journal

Publications (8)

|Mar 28, 2026
SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease.

Lorenzo Allegri, Federica Baldan, Catia Mio

|Dec 13, 2024
CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum.

Ilaria Vivaldi, Marco Imperi, Maria Giovanna Tedesco

|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina

|Apr 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Ke Mao, Christelle Borel, Muhammad Ansar

|Feb 22, 2023
IRF2BPL: A new genotype for progressive myoclonus epilepsies.

Cinzia Costa, Karen L Oliver, Carmen Calvello

|Aug 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere

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Frequent Collaborators

2 joint publications

Valentina Imperatore

1 joint publications

Chiara Leoni

1 joint publications

Maria Teresa Falco

1 joint publications

Paolo Fontana