Accueil
Michele Sacchini
Michele Sacchini
Affiliations
M Sacchini, Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy.
Publications (10)
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.
Endocrine connections
Avec:
Alessandro Barbato
,
Giulia Gori
,
Michele Sacchini
,
Francesca Pochiero
,
Sara Bargiacchi
,
Giovanna Traficante
,
Viviana Palazzo
,
Lucia Tiberi
,
Claudia Bianchini
,
Davide Mei
,
Elena Parrini
,
Tiziana Pisano
,
Elena Procopio
,
Renzo Guerrini
,
Angela Peron
,
Stefano Stagi
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Journal of medical genetics
Avec:
Emanuela Abiusi
,
Alessandro Vaisfeld
,
Stefania Fiori
,
Agnese Novelli
,
Serena Spartano
,
Maria Vittoria Faggiano
,
Teresa Giovanniello
,
Antonio Angeloni
,
Giovanni Vento
,
Roberta Santoloci
,
Francesca Gigli
,
Adele D'Amico
,
Simonetta Costa
,
Alessia Porzi
,
Mara Panella
,
Chiara Ticci
,
Marta Daniotti
,
Michele Sacchini
,
Ilaria Boschi
,
Carlo Dani
,
Rino Agostiniani
,
Enrico Bertini
,
Antonio Lanzone
,
Giancarlo Lamarca
,
Maurizio Genuardi
,
Marika Pane
,
Maria Alice Donati
,
Eugenio Mercuri
,
Francesco Danilo Tiziano
,
Auteur inconnu
Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences.
European review for medical and pharmacological sciences
Avec:
M Sacchini
,
E Procopio
,
F Pochiero
,
G Scaturro
,
M Daniotti
,
M A Donati
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
European journal of pediatrics
Avec:
Marika Pane
,
Giulia Stanca
,
Chiara Ticci
,
Costanza Cutrona
,
Roberto De Sanctis
,
Matteo Pirinu
,
Giorgia Coratti
,
Concetta Palermo
,
Beatrice Berti
,
Daniela Leone
,
Michele Sacchini
,
Margherita Cerboneschi
,
Lavinia Fanelli
,
Giulia Norcia
,
Nicola Forcina
,
Anna Capasso
,
Gianpaolo Cicala
,
Laura Antonaci
,
Martina Ricci
,
Maria Carmela Pera
,
Chiara Bravetti
,
Maria Alice Donati
,
Elena Procopio
,
Emanuela Abiusi
,
Alessandro Vaisfeld
,
Roberta Onesimo
,
Francesco Danilo Tiziano
,
Eugenio Mercuri
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.
Molecular genetics and metabolism reports
Avec:
Agata Fiumara
,
Annamaria Sapuppo
,
Serena Gasperini
,
Viola Crescitelli
,
Michele Sacchini
,
Elena Procopio
,
Vincenza Gragnaniello
,
Alberto Burlina
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Archives of disease in childhood
Avec:
Bianca Buchignani
,
Gianpaolo Cicala
,
Francesca Cumbo
,
Martina Ricci
,
Anna Capasso
,
Chiara Ticci
,
Sara Mazzanti
,
Noemi Brolatti
,
Michele Tosi
,
Claudia Dosi
,
Laura Antonaci
,
Giorgia Coratti
,
Maria Carmela Pera
,
Daniela Leone
,
Concetta Palermo
,
Beatrice Berti
,
Anna Lia Frongia
,
Michele Sacchini
,
Claudio Bruno
,
Riccardo Masson
,
Adele D'Amico
,
Roberta Battini
,
Marika Pane
,
Eugenio Mercuri
Groin Pain Syndrome Italian Consensus Conference update 2023.
The Journal of sports medicine and physical fitness
Avec:
Gian N Bisciotti
,
Raul Zini
,
Matteo Aluigi
,
Alessandro Aprato
,
Alessio Auci
,
Elena Bellinzona
,
Piero Benelli
,
Marco Bigoni
,
Alessandro Bisciotti
,
Andrea Bisciotti
,
Stefano Bona
,
Moreno Brustia
,
Marco Bruzzone
,
Gian L Canata
,
Christian Carulli
,
Gabriella Cassaghi
,
Michael Coli
,
Alessandro Corsini
,
Alberto Costantini
,
Dante Dallari
,
Giorgio Danelli
,
Giustino Danesi
,
Federico Della Rocca
,
Pasquale DE Nardo
,
Paolo DI Benedetto
,
Francesco DI Marzo
,
Francesco DI Pietto
,
Cristiano Eirale
,
Andrea Ferretti
,
Marco Fogli
,
Andrea Foglia
,
Alberto Guardoli
,
Antonio Guglielmi
,
Davide Lama
,
Nicola Maffulli
,
Andrea F Manunta
,
Leo Massari
,
Gianni Mazzoni
,
Biagio Moretti
,
Lorenzo Moretti
,
Gianni Nanni
,
Roberto Niccolai
,
Marcello Occhialini
,
Manlio Panascì
,
Maria F Parra
,
Giovanni Pigalarga
,
Filippo Randelli
,
Michaela Sacchini
,
Vincenzo Salini
,
Nicola Santori
,
Paolo Tenconi
,
Giuseppe Tognini
,
Marco Vegnuti
,
Antonio Zanini
,
Piero Volpi
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Neurology. Genetics
Avec:
Anna Rubegni
,
Alessandro Malandrini
,
Claudia Dosi
,
Guja Astrea
,
Jacopo Baldacci
,
Carla Battisti
,
Giulia Bertocci
,
M Alice Donati
,
M Teresa Dotti
,
Antonio Federico
,
Fabio Giannini
,
Salvatore Grosso
,
Renzo Guerrini
,
Sara Lenzi
,
Maria A Maioli
,
Federico Melani
,
Eugenio Mercuri
,
Michele Sacchini
,
Simona Salvatore
,
Gabriele Siciliano
,
Deborah Tolomeo
,
Paola Tonin
,
Nila Volpi
,
Filippo M Santorelli
,
Denise Cassandrini
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of
Genes
Avec:
Claudia Dosi
,
Anna Rubegni
,
Jacopo Baldacci
,
Daniele Galatolo
,
Stefano Doccini
,
Guja Astrea
,
Angela Berardinelli
,
Claudio Bruno
,
Giorgia Bruno
,
Giacomo Pietro Comi
,
Maria Alice Donati
,
Maria Teresa Dotti
,
Massimiliano Filosto
,
Chiara Fiorillo
,
Fabio Giannini
,
Gian Luigi Gigli
,
Marina Grandis
,
Diego Lopergolo
,
Francesca Magri
,
Maria Antonietta Maioli
,
Alessandro Malandrini
,
Roberto Massa
,
Sabrina Matà
,
Federico Melani
,
Sonia Messina
,
Andrea Mignarri
,
Maurizio Moggio
,
Elena Maria Pennisi
,
Elena Pegoraro
,
Giulia Ricci
,
Michele Sacchini
,
Angelo Schenone
,
Simone Sampaolo
,
Monica Sciacco
,
Gabriele Siciliano
,
Giorgio Tasca
,
Paola Tonin
,
Rossella Tupler
,
Mariarosaria Valente
,
Nila Volpi
,
Denise Cassandrini
,
Filippo Maria Santorelli
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
Advances in therapy
Avec:
Massimiliano Filosto
,
Stefano Cotti Piccinelli
,
Sabrina Ravaglia
,
Serenella Servidei
,
Maurizio Moggio
,
Olimpia Musumeci
,
Maria Alice Donati
,
Elena Pegoraro
,
Antonio Di Muzio
,
Lorenzo Maggi
,
Paola Tonin
,
Gianni Marrosu
,
Cristina Sancricca
,
Alberto Lerario
,
Michele Sacchini
,
Claudio Semplicini
,
Virginia Bozzoni
,
Roberta Telese
,
Silvia Bonanno
,
Rachele Piras
,
Maria Antonietta Maioli
,
Giulia Ricci
,
Liliana Vercelli
,
Anna Galvagni
,
Serena Gallo Cassarino
,
Filomena Caria
,
Tiziana Mongini
,
Gabriele Siciliano
,
Alessandro Padovani
,
Antonio Toscano
Réseau de co-auteurs
Maria Alice Donati
4 collaborations
Eugenio Mercuri
4 collaborations
Elena Procopio
3 collaborations
Chiara Ticci
3 collaborations
Marika Pane
3 collaborations
Claudia Dosi
3 collaborations
Gabriele Siciliano
3 collaborations
Paola Tonin
3 collaborations
Renzo Guerrini
2 collaborations
Emanuela Abiusi
2 collaborations
Alessandro Vaisfeld
2 collaborations
Adele D'Amico
2 collaborations
Francesco Danilo Tiziano
2 collaborations
Giorgia Coratti
2 collaborations
Concetta Palermo
2 collaborations
Beatrice Berti
2 collaborations
Daniela Leone
2 collaborations
Anna Capasso
2 collaborations
Gianpaolo Cicala
2 collaborations
Laura Antonaci
2 collaborations
Martina Ricci
2 collaborations
Maria Carmela Pera
2 collaborations
Claudio Bruno
2 collaborations
Anna Rubegni
2 collaborations
Alessandro Malandrini
2 collaborations
Guja Astrea
2 collaborations
Jacopo Baldacci
2 collaborations
Fabio Giannini
2 collaborations
Federico Melani
2 collaborations
Nila Volpi
2 collaborations
Denise Cassandrini
2 collaborations
Massimiliano Filosto
2 collaborations
Maria Antonietta Maioli
2 collaborations
Maurizio Moggio
2 collaborations
Elena Pegoraro
2 collaborations
Giulia Ricci
2 collaborations
Alessandro Barbato
1 collaboration
Giulia Gori
1 collaboration
Francesca Pochiero
1 collaboration
Sara Bargiacchi
1 collaboration
Giovanna Traficante
1 collaboration
Viviana Palazzo
1 collaboration
Lucia Tiberi
1 collaboration
Claudia Bianchini
1 collaboration
Davide Mei
1 collaboration
Elena Parrini
1 collaboration
Tiziana Pisano
1 collaboration
Angela Peron
1 collaboration
Stefano Stagi
1 collaboration
Stefania Fiori
1 collaboration
Agnese Novelli
1 collaboration
Serena Spartano
1 collaboration
Maria Vittoria Faggiano
1 collaboration
Teresa Giovanniello
1 collaboration
Antonio Angeloni
1 collaboration
Giovanni Vento
1 collaboration
Roberta Santoloci
1 collaboration
Francesca Gigli
1 collaboration
Simonetta Costa
1 collaboration
Alessia Porzi
1 collaboration
Mara Panella
1 collaboration
Marta Daniotti
1 collaboration
Ilaria Boschi
1 collaboration
Carlo Dani
1 collaboration
Rino Agostiniani
1 collaboration
Enrico Bertini
1 collaboration
Antonio Lanzone
1 collaboration
Giancarlo Lamarca
1 collaboration
Maurizio Genuardi
1 collaboration
None None
1 collaboration
M Sacchini
1 collaboration
E Procopio
1 collaboration
F Pochiero
1 collaboration
G Scaturro
1 collaboration
M Daniotti
1 collaboration
M A Donati
1 collaboration
Giulia Stanca
1 collaboration
Costanza Cutrona
1 collaboration
Roberto De Sanctis
1 collaboration
Matteo Pirinu
1 collaboration
Margherita Cerboneschi
1 collaboration
Lavinia Fanelli
1 collaboration
Giulia Norcia
1 collaboration
Nicola Forcina
1 collaboration
Chiara Bravetti
1 collaboration
Roberta Onesimo
1 collaboration
Agata Fiumara
1 collaboration
Annamaria Sapuppo
1 collaboration
Serena Gasperini
1 collaboration
Viola Crescitelli
1 collaboration
Vincenza Gragnaniello
1 collaboration
Alberto Burlina
1 collaboration
Bianca Buchignani
1 collaboration
Francesca Cumbo
1 collaboration
Sara Mazzanti
1 collaboration
Noemi Brolatti
1 collaboration
Michele Tosi
1 collaboration
Anna Lia Frongia
1 collaboration
Riccardo Masson
1 collaboration
Roberta Battini
1 collaboration
Gian N Bisciotti
1 collaboration
Raul Zini
1 collaboration
Matteo Aluigi
1 collaboration
Alessandro Aprato
1 collaboration
Alessio Auci
1 collaboration
Elena Bellinzona
1 collaboration
Piero Benelli
1 collaboration
Marco Bigoni
1 collaboration
Alessandro Bisciotti
1 collaboration
Andrea Bisciotti
1 collaboration
Stefano Bona
1 collaboration
Moreno Brustia
1 collaboration
Marco Bruzzone
1 collaboration
Gian L Canata
1 collaboration
Christian Carulli
1 collaboration
Gabriella Cassaghi
1 collaboration
Michael Coli
1 collaboration
Alessandro Corsini
1 collaboration
Alberto Costantini
1 collaboration
Dante Dallari
1 collaboration
Giorgio Danelli
1 collaboration
Giustino Danesi
1 collaboration
Federico Della Rocca
1 collaboration
Pasquale DE Nardo
1 collaboration
Paolo DI Benedetto
1 collaboration
Francesco DI Marzo
1 collaboration
Francesco DI Pietto
1 collaboration
Cristiano Eirale
1 collaboration
Andrea Ferretti
1 collaboration
Marco Fogli
1 collaboration
Andrea Foglia
1 collaboration
Alberto Guardoli
1 collaboration
Antonio Guglielmi
1 collaboration
Davide Lama
1 collaboration
Nicola Maffulli
1 collaboration
Andrea F Manunta
1 collaboration
Leo Massari
1 collaboration
Gianni Mazzoni
1 collaboration
Biagio Moretti
1 collaboration
Lorenzo Moretti
1 collaboration
Gianni Nanni
1 collaboration
Roberto Niccolai
1 collaboration
Marcello Occhialini
1 collaboration
Manlio Panascì
1 collaboration
Maria F Parra
1 collaboration
Giovanni Pigalarga
1 collaboration
Filippo Randelli
1 collaboration
Michaela Sacchini
1 collaboration
Vincenzo Salini
1 collaboration
Nicola Santori
1 collaboration
Paolo Tenconi
1 collaboration
Giuseppe Tognini
1 collaboration
Marco Vegnuti
1 collaboration
Antonio Zanini
1 collaboration
Piero Volpi
1 collaboration
Carla Battisti
1 collaboration
Giulia Bertocci
1 collaboration
M Alice Donati
1 collaboration
M Teresa Dotti
1 collaboration
Antonio Federico
1 collaboration
Salvatore Grosso
1 collaboration
Sara Lenzi
1 collaboration
Maria A Maioli
1 collaboration
Simona Salvatore
1 collaboration
Deborah Tolomeo
1 collaboration
Filippo M Santorelli
1 collaboration
Daniele Galatolo
1 collaboration
Stefano Doccini
1 collaboration
Angela Berardinelli
1 collaboration
Giorgia Bruno
1 collaboration
Giacomo Pietro Comi
1 collaboration
Maria Teresa Dotti
1 collaboration
Chiara Fiorillo
1 collaboration
Gian Luigi Gigli
1 collaboration
Marina Grandis
1 collaboration
Diego Lopergolo
1 collaboration
Francesca Magri
1 collaboration
Roberto Massa
1 collaboration
Sabrina Matà
1 collaboration
Sonia Messina
1 collaboration
Andrea Mignarri
1 collaboration
Elena Maria Pennisi
1 collaboration
Angelo Schenone
1 collaboration
Simone Sampaolo
1 collaboration
Monica Sciacco
1 collaboration
Giorgio Tasca
1 collaboration
Rossella Tupler
1 collaboration
Mariarosaria Valente
1 collaboration
Filippo Maria Santorelli
1 collaboration
Stefano Cotti Piccinelli
1 collaboration
Sabrina Ravaglia
1 collaboration
Serenella Servidei
1 collaboration
Olimpia Musumeci
1 collaboration
Antonio Di Muzio
1 collaboration
Lorenzo Maggi
1 collaboration
Gianni Marrosu
1 collaboration
Cristina Sancricca
1 collaboration
Alberto Lerario
1 collaboration
Claudio Semplicini
1 collaboration
Virginia Bozzoni
1 collaboration
Roberta Telese
1 collaboration
Silvia Bonanno
1 collaboration
Rachele Piras
1 collaboration
Liliana Vercelli
1 collaboration
Anna Galvagni
1 collaboration
Serena Gallo Cassarino
1 collaboration
Filomena Caria
1 collaboration
Tiziana Mongini
1 collaboration
Alessandro Padovani
1 collaboration
Antonio Toscano
1 collaboration