Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Giacomo, Garone"'
Autor:
Umberto Raucci, Marco Roversi, Alessandro Ferretti, Valerio Faccia, Giacomo Garone, Fabio Panetta, Carlo Mariani, Eloisa Rizzotto, Antonio Torelli, Giovanna Stefania Colafati, Angelo Gabriele Aulisa, Pasquale Parisi, Alberto Villani
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)
Abstract Background To date, the etiology and risk factors of torticollis are still poorly defined in the pediatric literature. Especially in the Emergency Department (ED) scenario, it is critical to reliably distinguish benign and transient conditio
Externí odkaz:
https://doaj.org/article/9b4a97182efc4061bd81fde47124e71d
Autor:
Jana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari, Nathalie Dorison, Serena Galosi, Giacomo Garone, Masa Malenica, Claudia Ravelli, Esra Serdaroglu, Laura A. van de Pol, Anne Koy, Vincenzo Leuzzi, Agathe Roubertie, Jean-Pierre Lin, Diane Doummar, Laura Cif, Juan Darío Ortigoza-Escobar
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundGNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the GNAO1 gene. Dyskinetic crises, marked by sudden and intense exacerbations of abnormal involuntary move
Externí odkaz:
https://doaj.org/article/b868ccdbbf144a0ebf6daa05480378e6
Autor:
Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Giulia Ceglie
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% of cases are still classified as idiopathic. Herein, we describe the case of a 3-year-old boy with a rare metabolic disorder due t
Externí odkaz:
https://doaj.org/article/75e0bf1198af45a399afc46be23166d1
Autor:
Giacomo Garone, Marco Roversi, Mara Pisani, Francesco La Penna, Antonio Musolino, Sebastian Cristaldi, Anna Maria Musolino, Amanda Roberto, Gianni Petrocelli, Antonino Reale, Fabio Midulla, Alberto Villani, Umberto Raucci
Publikováno v:
Children, Vol 10, Iss 11, p 1739 (2023)
Background: To date, no study has specifically examined children with acute-onset pupillary motility disorders (APMD). Especially in the Emergency Department (ED), it is crucial to distinguish benign and transient conditions from life-threatening or
Externí odkaz:
https://doaj.org/article/d536d6160cb54d83841e6cdf948056da
Autor:
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Valentina Ferro, Giacomo Garone, Federica Sancetta, Sergio Petroni, Stefano Pro, Rossella Rossi, Antonino Reale, Nicola Pirozzi
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-9 (2018)
Abstract Background Acute ocular motility disorders (OMDs) in children admitted to Emergency Department (ED) represents a not so rare condition with a wide spectrum of different etiologies. The emergency physician must be skilled in rapidly identifyi
Externí odkaz:
https://doaj.org/article/88b66cb311b64b9099ed1bc543ea8b1b
Autor:
Federica Graziola, Giacomo Garone, Fabrizia Stregapede, Luca Bosco, Federico Vigevano, Paolo Curatolo, Enrico Bertini, Lorena Travaglini, Alessandro Capuano
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
In recent years, genetic techniques of diagnosis have shown rapid development, resulting in a modified clinical approach to many diseases, including neurological disorders. Movement disorders, in particular those arising in childhood, pose a diagnost
Externí odkaz:
https://doaj.org/article/1874444fa32c4d48aa00f200ab5c2cc5
Publikováno v:
Parkinsonism & Related Disorders. 88:24-27
Background Although NKX 2.1 related chorea has been considered benign due to the favourable course of motor phenotype during life, the neurological condition is not limited to chorea, including non-motor symptoms in the developmental, cognitive and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b66bea87adf2cf954de4a2bc80a65aa4
https://doi.org/10.1016/j.parkreldis.2021.05.021
https://doi.org/10.1016/j.parkreldis.2021.05.021
Autor:
Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Emmanuel Roze, Jean Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim
Publikováno v:
Movement Disorders. 37:2466-2467
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b417351293ac76dbd62ca47ba888e93
https://doi.org/10.1002/mds.29256
https://doi.org/10.1002/mds.29256
Publikováno v:
The Application of Clinical Genetics. 13:71-81
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder affecting children with an onset before 18 months. Diagnostic clues include transient episodes of hemiplegia alternating in the laterality or quadriparesis, nystagmus and other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8fc1b9f70a8c74341119d8c7cd96286
https://doi.org/10.2147/tacg.s210325
https://doi.org/10.2147/tacg.s210325
Autor:
Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro‐Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim
Publikováno v:
MOVEMENT DISORDERS
MOVEMENT DISORDERS, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩
MOVEMENT DISORDERS, 2022, 37 (7), pp.1547-1554. ⟨10.1002/mds.29074⟩
Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a419c9cf727eb83b1be54bf8ebbace2
https://pubmed.ncbi.nlm.nih.gov/35722775
https://pubmed.ncbi.nlm.nih.gov/35722775