Raffaele Piumelli
Florence, Italy
Last Updated: 09/26/2026
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Found 11 publications
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene.
Journal: Stem cell research
Published: March 19, 2022
Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up.
Journal: Antioxidants (Basel, Switzerland)
Published: February 25, 2022
A Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population.
Journal: Frontiers in neurology
Published: December 16, 2020
The multiagency approach to Sudden Unexpected Infant Deaths (SUID): eleven years' experience in the Tuscany Region.
Journal: Italian journal of pediatrics
Published: May 19, 2020
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Journal: Orphanet journal of rare diseases
Published: March 27, 2020
Can we still do something-and what? - for a seemingly missing syndrome?: "Yes we can".
Journal: Italian journal of pediatrics
Published: August 19, 2019
Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues.
Journal: Journal of biological regulators and homeostatic agents
Published: February 08, 2019
Systemic oxidative stress in congenital central hypoventilation syndrome.
Journal: The European respiratory journal
Published: June 12, 2018
Apparent Life-Threatening Events (ALTE): Italian guidelines.
Journal: Italian journal of pediatrics
Published: May 19, 2017
Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome.
Journal: Sleep & breathing = Schlaf & Atmung
Published: July 26, 2014
Telemonitoring for infants at risk of apnoea, bradycardia and hypoxaemia: transmission of data improves the family compliance during home monitoring.
Journal: Journal of telemedicine and telecare
Published: August 31, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026