Pietro Palumbo

17PUBLICATIONS
43CO-AUTHORS
Neurology and neuromuscular diseasesGene mappingNeurogeneticsMolecular and organic electronicsGene expression (incl. microarray and other genome-wide approaches)
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Publications (17)

|Jun 29, 2026
From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet.

|Jun 26, 2026
Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

|May 04, 2026
A 350 kb <i>NEXMIF</i> Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome.

|Feb 20, 2026
Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.

Orazio Palumbo, Umberto Costantino, Mario Benvenuto

|Sep 22, 2025
The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.

Mario Benvenuto, Marilena Carmela Di Giacomo, Ada Piepoli

|Aug 13, 2025
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Mario Benvenuto, Dora Varvara, Massimo Carella

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Frequent Collaborators

17 joint publications

Orazio Palumbo

10 joint publications

Massimo Carella

4 joint publications

Mario Benvenuto

4 joint publications

Marco Castori