Simone Gana

10PUBLICATIONS
160CO-AUTHORS
Neurology and neuromuscular diseasesGenetics not elsewhere classifiedPaediatrics not elsewhere classifiedNeurogeneticsMedical genetics (excl. cancer genetics)
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Publications (10)

|May 18, 2026
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.

|Aug 28, 2025
Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study.

Carlo Alberto Quaranta, Alice Gardani, Giulia Andorno

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|May 27, 2024
LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Simone Gana, Marta Di Biagio, Laura Carraro

|Feb 07, 2024
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.

Davide Politano, Fulvio D'Abrusco, Ludovica Pasca

|Feb 09, 2023
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.

Simone Gana, Valentina Serpieri, Elisa Giorgio

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Frequent Collaborators

4 joint publications

Enza Maria Valente

3 joint publications

Valentina Serpieri

2 joint publications

Davide Politano

2 joint publications

Simona Orcesi