Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Raffaele, Piumelli"'
Autor:
Ana Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, Tiziana Bachetti, Paride Pelucchi, Valentina Melzi, Cinzia Arzilli, Marta Peruzzi, Rolland A. Reinbold, Silvia Cardani, Amelia Morrone, Renzo Guerrini, Ileana Zucchi, Stefania Corti, Isabella Ceccherini, Raffaele Piumelli, Niccolò Nassi, Simona Di Lascio, Diego Fornasari
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102781- (2022)
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of the autonomic nervous system (ANS), characterized by inadequate control of autonomic ventilation and global autonomic dysfunction. Heterozygous polyalanine repeat expansion muta
Externí odkaz:
https://doaj.org/article/aaf7a82787834f39b8f3ea00ebf56a91
Autor:
Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal, Miriam Katz-Salamon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeob
Externí odkaz:
https://doaj.org/article/6d484979e66841ffb1ce84f9a23224fe
Autor:
Raffaele Piumelli, Niccolò Nassi, Annamaria Buccoliero, Rossella Occhini, Vincenzo Nardini, Paolo Toti, Cristina Salvatori, Marta Peruzzi, Cinzia Arzilli
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020)
Abstract Background The Sudden Unexpected Infant Death Syndrome (SUID) is one of the leading causes of mortality in the first year of life. The aim of this work was the retrospective evaluation of the incidence of SUID and the effectiveness of the mu
Externí odkaz:
https://doaj.org/article/07f1e21fa6334ad791627efbb73dee33
Autor:
Tiziana Bachetti, Simona Bagnasco, Raffaele Piumelli, Antonella Palmieri, Isabella Ceccherini
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Heterozygous mutations in the Paired like homeobox 2b (PHOX2B) gene are causative of congenital central hypoventilation syndrome (CCHS), a rare monogenic disorder belonging to the family of neurocristopathies and due to a defective development of the
Externí odkaz:
https://doaj.org/article/f51f4ed5839f4684936e72fcb9017c8a
Autor:
Marta Peruzzi, Matteo Ramazzotti, Roberta Damiano, Marzia Vasarri, Giancarlo la Marca, Cinzia Arzilli, Raffaele Piumelli, Niccolò Nassi, Donatella Degl'Innocenti
Publikováno v:
Antioxidants, Vol 11, Iss 5, p 929 (2022)
Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system and in particular of the respiratory control during sleep. No drug therapy is, to date, available; therefore, the survival of these patients
Externí odkaz:
https://doaj.org/article/50b93089472b4fee9576aa8aa421c28e
Autor:
Raffaele Piumelli, Riccardo Davanzo, Niccolò Nassi, Silvia Salvatore, Cinzia Arzilli, Marta Peruzzi, Massimo Agosti, Antonella Palmieri, Maria Giovanna Paglietti, Luana Nosetti, Raffaele Pomo, Francesco De Luca, Alessandro Rimini, Salvatore De Masi, Simona Costabel, Valeria Cavarretta, Anna Cremante, Fabio Cardinale, Renato Cutrera
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-23 (2017)
Abstract Five years after the first edition, we have revised and updated the guidelines, re-examining the queries and relative recommendations, expanding the issues addressed with the introduction of a new entity, recently proposed by the American Ac
Externí odkaz:
https://doaj.org/article/1510c951c86d4c62a54e8d79ec98849d
Autor:
Raffaele Piumelli, Cinzia Arzilli, Niccolò Nassi, Marta Peruzzi, Carola-Maria Ernst, Cristina Salvatori
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-2 (2019)
Abstract In this letter, the authors compare the incidence of SUDI and SIDS in the Tuscany Region to the incidence reported by Campi and Bonati in their paper “Can we still do something-and what?- for a seemingly missing syndrome?” that was recen
Externí odkaz:
https://doaj.org/article/f5f5c812fdac4261b812ded63697d8f3
Autor:
Tiziana, Bachetti, Simona, Bagnasco, Raffaele, Piumelli, Antonella, Palmieri, Isabella, Ceccherini
Publikováno v:
Frontiers in Neurology
Heterozygous mutations in the Paired like homeobox 2b (PHOX2B) gene are causative of congenital central hypoventilation syndrome (CCHS), a rare monogenic disorder belonging to the family of neurocristopathies and due to a defective development of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd68a132a1f3105fb7821e61c9e0edf9
https://pubmed.ncbi.nlm.nih.gov/33815256
https://pubmed.ncbi.nlm.nih.gov/33815256
Autor:
Agneta Markstrom, Jochen Peters, Giancarlo Ottonello, Ha Trang, Johannes Schoeber, María Ángeles García-Teresa, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Barbara Gnidovec-Strazisar, Marek Migdal, Andreas Pfleger, Raquel Porto-Abal, Maria Helena Estevao, Irena Senecic-Cala, Raffaele Piumelli, Miriam Katz-Salamon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2209baa81c724d19d692eed169c5dee7
https://doi.org/10.1186/s13023-020-01460-2
https://doi.org/10.1186/s13023-020-01460-2
Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::11760b129477ff25e40378f6554e7f69
https://www.bib.irb.hr/1264747
https://www.bib.irb.hr/1264747
