Vincenzo Salpietro

15PUBLICATIONS
163CO-AUTHORS
NeurogeneticsMedical roboticsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Cancer genetics
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Publications (15)

|Aug 06, 2026
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

|Jul 15, 2024
Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review.

Chiara Mameli, Giulia Marie Smylie, Marco Marigliano

|Apr 06, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Rauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer

|Mar 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Viorica Chelban, Henriette Aksnes, Reza Maroofian

|Mar 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45.

Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows

|Jan 08, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

Andrea Accogli, Saurabh Shakya, Taewoo Yang

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Frequent Collaborators

7 joint publications

Henry Houlden

4 joint publications

Reza Maroofian

3 joint publications

Stephanie Efthymiou

3 joint publications

Fowzan S Alkuraya