Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Eugenio Maria Mercuri"'
Autor:
Francesca Serrao, Eloisa Tiberi, Tommaso Verdolotti, Domenico Marco Maurizio Romeo, Mirta Corsello, Elisa Pede, Francesco Cota, Simonetta Costa, Francesca Gallini, Cesare Colosimo, Eugenio Maria Mercuri, Giovanni Vento
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2024)
BackgroundHypoxic-ischemic encephalopathy (HIE) represents one of the major causes of neonatal death and long-term neurological disability. Both hypoxic-ischemic insults and therapeutic hypothermia (TH) can affect respiratory function. Currently, the
Externí odkaz:
https://doaj.org/article/394e5921c3bc4668a0c4d804e9b7d5bc
Autor:
Daniela Pia Rosaria Chieffo, Valentina Arcangeli, Federica Moriconi, Angelica Marfoli, Federica Lino, Sofia Vannuccini, Elisa Marconi, Ida Turrini, Claudia Brogna, Chiara Veredice, Alessandro Antonietti, Gabriele Sani, Eugenio Maria Mercuri
Publikováno v:
Children, Vol 10, Iss 8, p 1356 (2023)
Introduction: Specific Learning Disorder (SLD) is a neurodevelopmental disorder characterized by difficulties in perceiving and processing verbal and non-verbal information. It is usually accompanied by impaired academic skills leading to school drop
Externí odkaz:
https://doaj.org/article/2857525cee714ce0be301c89e0be1f26
Autor:
Michela Quintiliani, Daniela Ricci, Maria Petrianni, Simona Leone, Lorenzo Orazi, Filippo Amore, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Veredice, Marco Perulli, Elisa Musto, Eugenio Maria Mercuri, Domenica Immacolata Battaglia
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
BackgroundCDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual impairment (CVI) is frequent in patients with CDD. In addition to being recognized a
Externí odkaz:
https://doaj.org/article/1ed033c69ad0407e81886a0c092099e6
Autor:
Maria Luigia Gambardella, Elisa Pede, Lorenzo Orazi, Simona Leone, Michela Quintiliani, Giulia Maria Amorelli, Maria Petrianni, Marta Galanti, Filippo Amore, Elisa Musto, Marco Perulli, Ilaria Contaldo, Chiara Veredice, Eugenio Maria Mercuri, Domenica Immacolata Battaglia, Daniela Ricci
Publikováno v:
Genes
Volume 14
Issue 3
Pages: 544
Volume 14
Issue 3
Pages: 544
Background: GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit α of G-proteins. These conditions are characterized by epilepsy, mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4cfe34d751b8208b6327fcf47316fc
https://hdl.handle.net/10807/236395
https://hdl.handle.net/10807/236395
Autor:
Marianna Mazza, Carla Avallone, Georgios Demetrios Kotzalidis, Giuseppe Marano, Lorenzo Moccia, Anna Maria Serio, Marta Balocchi, Ilenia Sessa, Delfina Janiri, Ilaria De Luca, Caterina Brisi, Maria Chiara Spera, Laura Monti, Angela Gonsalez del Castillo, Gloria Angeletti, Daniela Chieffo, Lucio Rinaldi, Luigi Janiri, Antonio Lanzone, Giovanni Scambia, Eugenio Maria Mercuri, Gabriele Sani
Publikováno v:
Journal of Personalized Medicine
Volume 13
Issue 2
Pages: 211
Volume 13
Issue 2
Pages: 211
Pregnancy is a unique experience in women’s life, requiring a great ability of adaptation and self-reorganization; vulnerable women may be at increased risk of developing depressive symptoms. This study aimed to examine the incidence of depressive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e79d185474ced31e6dab4a201835d21
https://doi.org/10.3390/jpm13020211
https://doi.org/10.3390/jpm13020211
Autor:
Giulia Norcia, Beatrice Berti, Valentina Giorgio, Nicola Forcina, Daniela Leone, Richard S. Finkel, Concetta Palermo, Antonella Cerchiari, Eugenio Maria Mercuri, Giorgia Coratti, Lavinia Fanelli, Simona Lucibello, Marika Pane, Roberta Onesimo, Roberto De Sanctis, Sara Carnicella
Publikováno v:
Journal of Neuromuscular Diseases
We describe the development of a new tool specifically designed to record oral abilities, swallowing and, more generally, feeding in young type 1 SMA patients, to be used during the first 24 months of life. The tool is composed by a checklist and a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::801d656f860a7a8e23f987deec115998
http://hdl.handle.net/10807/187121
http://hdl.handle.net/10807/187121
Autor:
Eugenio Maria Mercuri, Hanns Lochmüller, S. Attarian, Maggie C. Walter, Tim Hagenacker, Christoph Kleinschnitz, Juan F. Vázquez-Costa, S Delstanche, C Neuwirth, Valeria A. Sansone
Publikováno v:
Journal of neuromuscular diseases
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease which affects 1 in 6,000–10,000 live births, caused by loss of the survival motor neuron 1 gene (SMN1). A major focus of therapeutic developments has been on in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af6d90eb57c25aeb2ab4b1b64432d1a
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13279
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13279
Autor:
Flaviana Bianco, Gessica Vasco, Antonio Maria Leone, Cesare Colosimo, Marika Pane, Eugenio Maria Mercuri
Publikováno v:
Università Cattolica del Sacro Cuore-IRIS
In the last decade there has been increasing evidence of the value of muscle imaging as a diagnostic tool in neuromuscular disorders. Muscle magnetic resonance (MR) imaging can generally be easily performed in most adult patients but not in young chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eafcbd3d4fe03c666a87a1057e7eb91
http://hdl.handle.net/10807/7538
http://hdl.handle.net/10807/7538