Chiara Fiorillo

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 17

Top Venues

European journal of human genetics : EJHG

Genes

Science translational medicine

Healthcare (Basel, Switzerland)

This page only lists publications with an associated author ORCID identifier.

Publications

Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Sara Casalini, Marina Grandis, Antonio Falace, Annalaura Torella, Esther Picillo, Maria Elena Onore, Luisa Politano, Vincenzo Nigro, A Micheil Innes, Rita Barresi, Claudio Bruno, Federico Zara, Chiara Fiorillo, Marcello Scala
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia. European journal of human genetics : EJHG 32 (3) (2024)
Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Sara Casalini, Marina Grandis, Antonio Falace, Annalaura Torella, Esther Picillo, Maria Elena Onore, Luisa Politano, Vincenzo Nigro, A Micheil Innes, Rita Barresi, Claudio Bruno, Federico Zara, Chiara Fiorillo, Marcello Scala
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia. European journal of human genetics : EJHG (2024)
Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Sara Casalini, Marina Grandis, Antonio Falace, Annalaura Torella, Esther Picillo, Maria Elena Onore, Luisa Politano, Vincenzo Nigro, A Micheil Innes, Rita Barresi, Claudio Bruno, Federico Zara, Chiara Fiorillo, Marcello Scala
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia. European journal of human genetics : EJHG 32 (3) (2024)
Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Sara Casalini, Marina Grandis, Antonio Falace, Annalaura Torella, Esther Picillo, Maria Elena Onore, Luisa Politano, Vincenzo Nigro, A Micheil Innes, Rita Barresi, Claudio Bruno, Federico Zara, Chiara Fiorillo, Marcello Scala
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia. European journal of human genetics : EJHG 32 (3) (2024)
Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Sara Casalini, Marina Grandis, Antonio Falace, Annalaura Torella, Esther Picillo, Maria Elena Onore, Luisa Politano, Vincenzo Nigro, A Micheil Innes, Rita Barresi, Claudio Bruno, Federico Zara, Chiara Fiorillo, Marcello Scala
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia. European journal of human genetics : EJHG 32 (3) (2024)
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 Mirabella, 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
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
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 Mirabella, 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
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Valentina Taglietti, Kaouthar Kefi, Lea Rivera, Oriane Bergiers, Nastasia Cardone, Fanny Coulpier, Stamatia Gioftsidi, Bernadette Drayton-Libotte, Cyrielle Hou, François Jérôme Authier, Pietri-Rouxel France, Matthieu P Robert, Dominique Bremond-Gignac, Claudio Bruno, Chiara Fiorillo, Edoardo Malfatti, Peggy Lafuste, Laurent Tiret, Frederic Relaix
Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy. Science translational medicine 15 (685) (2023)
Valentina Taglietti, Kaouthar Kefi, Lea Rivera, Oriane Bergiers, Nastasia Cardone, Fanny Coulpier, Stamatia Gioftsidi, Bernadette Drayton-Libotte, Cyrielle Hou, François Jérôme Authier, Pietri-Rouxel France, Matthieu P Robert, Dominique Bremond-Gignac, Claudio Bruno, Chiara Fiorillo, Edoardo Malfatti, Peggy Lafuste, Laurent Tiret, Frederic Relaix
Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy. Science translational medicine 15 (685) (2023)
Valentina Taglietti, Kaouthar Kefi, Lea Rivera, Oriane Bergiers, Nastasia Cardone, Fanny Coulpier, Stamatia Gioftsidi, Bernadette Drayton-Libotte, Cyrielle Hou, François Jérôme Authier, Pietri-Rouxel France, Matthieu P Robert, Dominique Bremond-Gignac, Claudio Bruno, Chiara Fiorillo, Edoardo Malfatti, Peggy Lafuste, Laurent Tiret, Frederic Relaix
Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy. Science translational medicine 15 (685) (2023)
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 Mirabella, 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
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
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 Mirabella, 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
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Jacopo Baldacci, Marco Calderisi, Chiara Fiorillo, Filippo Maria Santorelli, Anna Rubegni
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders. Healthcare (Basel, Switzerland) 10 (3) (2022)
Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Payam Mohassel, Matteo Cataldi, Chiara Campana, Simone Morando, Chiara Panicucci, Marina Pedemonte, Noemi Brolatti, Sabrina Siliquini, Monica Traverso, Serena Baratto, Doriana Debellis, Stefania Magri, Valeria Prada, Emilia Bellone, Vincenzo Salpietro, Sandra Donkervoort, Kenneth Gable, Sita D Gupta, Teresa M Dunn, Carsten G Bönnemann, Franco Taroni, Claudio Bruno, Angelo Schenone, Paola Mandich, Lucilla Nobbio, Maria Nolano
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment. Neuropathology and applied neurobiology 48 (7) (2022)
Marco Cassone, Chiara Fiorillo, Federico Zara, Carlo Vitali
New phenotype caused by POMGNT2 mutations. BMJ case reports 14 (7) (2021)
Marcello Scala, Giorgia Brigati, Chiara Fiorillo, Claudia Nesti, Anna Rubegni, Marina Pedemonte, Claudio Bruno, Mariasavina Severino, Maria Derchi, Carlo Minetti, F M Santorelli
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings. Neurogenetics 20 (3) (2019)
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo, Claudio Bruno
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations. Journal of neurology 265 (6) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Chiara Fiorillo