Flavia Palombo

4PUBLICATIONS
4CO-AUTHORS
Gene mappingOptometryDevelopmental genetics (incl. sex determination)Infant and child health
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Apr 16, 2024
Two more families supporting the existence of monogenic spinocerebellar ataxia 48.

Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano

|Sep 21, 2023
Recessive <i>MECR</i> pathogenic variants cause an LHON-like optic neuropathy.

Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla

|Aug 11, 2022
A Second Case With the V374A <i>KCND3</i> Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.

Flavia Palombo, Chiara La Morgia, Claudio Fiorini

|Mar 22, 2021
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.

Flavia Palombo, Benedetta Piccolo, Elena Saccani

Pageof 1

Frequent Collaborators

2 joint publications

Leonardo Caporali

1 joint publications

Chiara La Morgia

1 joint publications

Claudio Fiorini

1 joint publications

Enrico Baruffini