Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Chiara Alfonsi"'
Autor:
Mario Mastrangelo, Chiara Alfonsi, Isabella Screpanti, Laura Masuelli, Barbara Tavazzi, Davide Mei, Flavia Giannotti, Renzo Guerrini, Vincenzo Leuzzi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
We describe a 7-year-old boy presenting with a developmental encephalopathy, severe epilepsy, retinopathy with salt and pepper fundus, and ultrastructural skin alterations resembling a neuronal ceroid lipofuscinosis. Whole exome-sequencing detected b
Externí odkaz:
https://doaj.org/article/82b955a94b5c4bad865fd039c50e1267
Autor:
Elena Catino, Giorgia Perroni, Michela Di Trani, Chiara Alfonsi, Flavia Chiarotti, Francesco Cardona
Publikováno v:
Frontiers in Psychiatry, Vol 10 (2019)
Background and Objectives: Feeding problems occur more frequently among children with Autism spectrum disorder (ASD). The aim of this study was to analyse eating difficulties of ASD children through the direct observation of the caregiver-child co-re
Externí odkaz:
https://doaj.org/article/60df1a9d73c44c76aadf92002b2054b4
Autor:
Marika Pane, Elena S Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e83400 (2014)
ObjectiveIn the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observatio
Externí odkaz:
https://doaj.org/article/fe77c61b1a644415a147e462fe206801
Autor:
Chiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, Natalia Juliá Palacios, Inés Podzamczer-Valls, Nuria Gutiérrez Cruz, María Rosario Domingo Jiménez, Salvador Ibáñez Micó, Miguel Tomás Vila, Kathrin Jeltsch, Oya Kuseyri Hübschmann, Thomas Opladen, Ramón Velázquez Fragua, Teresa Gómez, Oscar Alcoverro Fortuny, Inmaculada García Jiménez, Eduardo López Laso, Ana Roche Martínez, Jordi Muchart López, Àngels Garcia-Cazorla
Publikováno v:
Neuroradiology
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
PURPOSE: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0092aa4fe206f265d43455c6ac0bdecd
https://hdl.handle.net/11573/1670737
https://hdl.handle.net/11573/1670737
Autor:
Angeles Garcia Cazorla, Giovanna Zorzi, Vincenzo Leuzzi, Daniele Ghezzi, Francesca Nardecchia, Federica Gigliotti, Diego Martinelli, Nardo Nardocci, Chiara Alfonsi, Federica Rachele Danti, Serena Galosi
Publikováno v:
Journal of the Neurological Sciences. 429:117675
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::128d6e89aebdd71c888fd4ffe07be517
https://doi.org/10.1016/j.jns.2021.117675
https://doi.org/10.1016/j.jns.2021.117675
Autor:
Giorgia Perroni, Flavia Chiarotti, Francesco Cardona, Michela Di Trani, Chiara Alfonsi, Elena Catino
Publikováno v:
Frontiers in Psychiatry, Vol 10 (2019)
Frontiers in Psychiatry
Frontiers in Psychiatry
Background and Objectives: Feeding problems occur more frequently among children with Autism spectrum disorder (ASD). The aim of this study was to analyse eating difficulties of ASD children through the direct observation of the caregiver-child co-re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac54927922e44d7d6c08e2f6795262de
Autor:
Chiara Alfonsi, Vincenzo Cesi, Valerio Fulci, Sara Isoldi, Salvatore Cucchiara, Claudia Carissimi, Laura Stronati, Francesca Palone, Francesco Cardona, Ilaria Laudadio
Background and Aims Recent evidence implicates gut microbiota (GM) and immune alterations in autism spectrum disorders (ASD). We assess GM profile and peripheral levels of immunological, neuronal and bacterial molecules in ASD children and controls.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d6043a792c0663d8d987484ee7c1e6
http://hdl.handle.net/11573/1285102
http://hdl.handle.net/11573/1285102
Autor:
Barbara Tavazzi, Isabella Screpanti, Vincenzo Leuzzi, Laura Masuelli, Renzo Guerrini, Mario Mastrangelo, Davide Mei, Chiara Alfonsi, Flavia Giannotti
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
We describe a 7-year-old boy presenting with a developmental encephalopathy, severe epilepsy, retinopathy with salt and pepper fundus, and ultrastructural skin alterations resembling a neuronal ceroid lipofuscinosis. Whole exome-sequencing detected b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e35879f8c0a38d5f94dd27fb5ae2179
http://hdl.handle.net/11573/1359160
http://hdl.handle.net/11573/1359160
Akademický článek
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Autor:
Claudio Bruno, Tiziana Mongini, Silvia Frosini, Sonia Messina, Enrica Rolle, Stefano C. Previtali, Francesca Gualandi, Roberto De Sanctis, Marika Pane, Gian Luca Vita, Filippo Cavallaro, Adele D'Amico, Paola D'Ambrosio, Angela Berardinelli, Roberta Battini, Luca Bello, Giovanni Baranello, Lucia Morandi, Giacomo P. Comi, Luisa Politano, Maria Teresa Arnoldi, Enrico Bertini, Elena S. Mazzone, Francesca Rossi, Concetta Palermo, Nathalie Goemans, Marlene Van der Haawue, Antonella Pini, Maria Alice Donati, Alessandra Ferlini, Yvan Torrente, Elena Pegoraro, Chiara Alfonsi, Roberta Scalise, Maria Pia Sormani, Eugenio Mercuri, Francesca Magri, Serena Bonfiglio, Michele Sacchini, Valentina Lanzillotta, Sara Napolitano, Lavinia Fanelli, Flaviana Bianco, Emanuela Viggiano
Publikováno v:
Università Cattolica del Sacro Cuore-IRIS
PLoS ONE, Vol 9, Iss 1, p e83400 (2014)
PLoS ONE
PLoS ONE, Vol 9, Iss 1, p e83400 (2014)
PLoS ONE
ObjectiveIn the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97d75fca133c4bcf128a8130f246f40
http://hdl.handle.net/11392/1994412
http://hdl.handle.net/11392/1994412