Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Simona Domenica Marino"'
Autor:
Piero Pavone, Raffaele Falsaperla, Martino Ruggieri, Simona Domenica Marino, Enrico Parano, Xena Giada Pappalardo
Publikováno v:
Global Medical Genetics, Vol 10, Iss 03, Pp 234-239 (2023)
Chromosome 21q deletion syndrome is a rare disorder affecting the long arm of chromosome 21 and manifesting with wide phenotypic features depending on the size and position of the deleted region. In the syndrome, three distinct deleted regions have b
Externí odkaz:
https://doaj.org/article/f311c8f415fd45429f09ca487fab9dea
Autor:
Raffaele Falsaperla, Silvia Marino, Carla Moscheo, Lucia Giovanna Tardino, Simona Domenica Marino, Concetta Sciuto, Piero Pavone, Giovanna Vitaliti, Federica Sullo, Martino Ruggieri
Publikováno v:
Clinical and Experimental Pediatrics, Vol 66, Iss 8, Pp 350-356 (2023)
Background Palliative care is a comprehensive treatment approach that guarantees comfort for pediatric patients and their families from diagnosis to death. The techniques used for neurological patients in the field of palliative care can enhance the
Externí odkaz:
https://doaj.org/article/49ccd84762c94ca495ff42919c704a14
Autor:
Piero Pavone, Pasquale Striano, Giovanni Cacciaguerra, Simona Domenica Marino, Enrico Parano, Xena Giada Pappalardo, Raffaele Falsaperla, Martino Ruggieri
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionTubulin genes have been related to severe neurological complications and the term “tubulinopathy” now refers to a heterogeneous group of disorders involving an extensive family of tubulin genes with TUBA1A being the most common. A rev
Externí odkaz:
https://doaj.org/article/8813132f11cb4874aac60f4dba579464
Autor:
Raffaele Falsaperla, Giovanna Vitaliti, Monica Sciacca, Lucia Tardino, Simona Domenica Marino, Silvia Marino, Carla Moscheo, Mariaclaudia Meli, Maria Concetta Vitaliti, Massimo Barbagallo, Vita Antonella Di Stefano, Marco Andrea Nicola Saporito, Martino Ruggieri
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract Herein, authors present a retrospective, multi-center study to determine the number of accesses to Pediatric Emergency Unit (PEU) of patients within 28 days of life, admitted to (1) the Acute and Emergency Pediatric Unit, San Marco Universit
Externí odkaz:
https://doaj.org/article/a6ea67bd1fc248b498392aac31d014b9
Autor:
Piero Pavone, Xena Giada Pappalardo, Naira Mustafa, Sung Yoon Cho, Dong Kyu Jin, Gemma Incorpora, Raffaele Falsaperla, Simona Domenica Marino, Giovanni Corsello, Enrico Parano, Martino Ruggieri
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-11 (2022)
Abstract Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutat
Externí odkaz:
https://doaj.org/article/860c8ce952474fad8d239f8abc246a64
Autor:
Piero Pavone, Xena Giada Pappalardo, Enrico Parano, Raffaele Falsaperla, Simona Domenica Marino, John Kane Fink, Martino Ruggieri
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
In addition to central nervous system infections, seizures and fever may occur together in several neurological disorders. Formerly, based on the clinical features and prognostic evolution, the co-association of seizure and fever included classical f
Externí odkaz:
https://doaj.org/article/724bd96255b343d789d7e0009f6b3e3f
Autor:
Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-9 (2019)
Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoc
Externí odkaz:
https://doaj.org/article/0143423662db444797de4673efb60a6e
Autor:
Raffaele Falsaperla, Xena Giada Pappalardo, Catia Romano, Simona Domenica Marino, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Piero Pavone
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychi
Externí odkaz:
https://doaj.org/article/62b56d05b5304c8bab8f5c1cd5280a0f
Autor:
Raffaele Falsaperla, Simona Domenica Marino, Giulia Salomone, Francesca Madia, Silvia Marino, Lucia Giovanna Tardino, Bruna Scalia, Martino Ruggieri
Publikováno v:
Translational Pediatrics. 12:292-300
Autor:
Raffaele Falsaperla, Silvia Marino, Giovanna Vitaliti, Anna Bonadies, Simona Domenica Marino, Piero Pavone, Catia Romano, Fabio Savoia, Camilla Calì, Martino Ruggieri, Riccardo Lubrano, Vincenzo Tipo
Publikováno v:
Acta Neurologica Belgica.