Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation

por Manini, Arianna, Velardo, Daniele, Ciscato, Patrizia, Cinnante, Claudia, Moggio, Maurizio, Comi, Giacomo, Corti, Stefania, Ronchi, Dario
Publicado 2022

Diffusion tensor imaging in the musculoskeletal and peripheral nerve systems: from experimental to clinical applications

por Chianca, Vito, Albano, Domenico, Messina, Carmelo, Cinnante, Claudia Maria, Triulzi, Fabio Maria, Sardanelli, Francesco, Sconfienza, Luca Maria
Publicado 2017

Acute flaccid myelitis associated with enterovirus-D68 infection in an otherwise healthy child

por Esposito, Susanna, Chidini, Giovanna, Cinnante, Claudia, Napolitano, Luisa, Giannini, Alberto, Terranova, Leonardo, Niesters, Hubert, Principi, Nicola, Calderini, Edoardo
Publicado 2017

Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature

por Consales, Alessandra, Ardemani, Giulia, Cinnante, Claudia Maria, Catalano, Mariana Rita, Giavoli, Claudia, Villa, Roberta, Iascone, Maria, Fontana, Camilla, Bedeschi, Maria Francesca, Fumagalli, Monica
Publicado 2022

Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature

por Costamagna, Gianluca, Meneri, Megi, Abati, Elena, Brusa, Roberta, Velardo, Daniele, Gagliardi, Delia, Mauri, Eleonora, Cinnante, Claudia, Bresolin, Nereo, Comi, Giacomo, Corti, Stefania, Faravelli, Irene
Publicado 2020

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

por Paoletti, Matteo, Pichiecchio, Anna, Colafati, Giovanna Stefania, Conte, Giorgio, Deodato, Federica, Gasperini, Serena, Menni, Francesca, Furlan, Francesca, Rubert, Laura, Triulzi, Fabio Maria, Cinnante, Claudia
Publicado 2020

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes

por Velardo, Daniele, D'Angelo, Maria Grazia, Citterio, Andrea, Panzeri, Elena, Napoli, Laura, Cinnante, Claudia, Moggio, Maurizio, Comi, Giacomo Pietro, Ronchi, Dario, Bassi, Maria Teresa
Publicado 2022

Severe and isolated headache associated with hypertension as unique clinical presentation of posterior reversible encephalopathy syndrome

por Milani, Gregorio Paolo, Edefonti, Alberto, Tardini, Giacomo, Arturi, Elisa, Cinnante, Claudia Maria, Laicini, Emanuela Anna, Leva, Ernesto, Cappellari, Alberto Maria, Agostoni, Carlo, Fossali, Emilio Filippo
Publicado 2014

Immune-mediated necrotizing myopathy due to statins exposure

por VILLA, LUISA, LERARIO, ALBERTO, CALLONI, SONIA, PEVERELLI, LORENZO, MATINATO, CATERINA, DE LISO, FEDERICA, CERIOTTI, FERRUCCIO, TIRONI, ROBERTO, SCIACCO, MONICA, MOGGIO, MAURIZIO, TRIULZI, FABIO, CINNANTE, CLAUDIA
Publicado 2018

Ophthalmoplegia Due to Miller Fisher Syndrome in a Patient With Myasthenia Gravis

por Brusa, Roberta, Faravelli, Irene, Gagliardi, Delia, Magri, Francesca, Cogiamanian, Filippo, Saccomanno, Domenica, Cinnante, Claudia, Mauri, Eleonora, Abati, Elena, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo Pietro
Publicado 2019

Effects of Early Intervention on Visual Function in Preterm Infants: A Randomized Controlled Trial

por Fontana, Camilla, De Carli, Agnese, Ricci, Daniela, Dessimone, Francesca, Passera, Sofia, Pesenti, Nicola, Bonzini, Matteo, Bassi, Laura, Squarcina, Letizia, Cinnante, Claudia, Mosca, Fabio, Fumagalli, Monica
Publicado 2020

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery

por Aleo, Sebastiano, Cinnante, Claudia, Avignone, Sabrina, Prada, Elisabetta, Scuvera, Giulietta, Ajmone, Paola Francesca, Selicorni, Angelo, Costantino, Maria Antonella, Triulzi, Fabio, Marchisio, Paola, Gervasini, Cristina, Milani, Donatella
Publicado 2020

Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature

por Gagliardi, Delia, Faravelli, Irene, Villa, Luisa, Pero, Guglielmo, Cinnante, Claudia, Brusa, Roberta, Mauri, Eleonora, Tresoldi, Laura, Magri, Francesca, Govoni, Alessandra, Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania
Publicado 2018

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

por Borsani, Oscar, Piga, Daniela, Costa, Stefania, Govoni, Alessandra, Magri, Francesca, Artoni, Andrea, Cinnante, Claudia M., Fagiolari, Gigliola, Ciscato, Patrizia, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania
Publicado 2018

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

por Telese, Roberta, Pagliarani, Serena, Lerario, Alberto, Ciscato, Patrizia, Fagiolari, Gigliola, Cassandrini, Denise, Grimoldi, Nadia, Conte, Giorgio, Cinnante, Claudia, Santorelli, Filippo M., Comi, Giacomo P., Sciacco, Monica, Peverelli, Lorenzo
Publicado 2020

Case Report: Efficacy of Rituximab in a Patient With Familial Mediterranean Fever and Multiple Sclerosis

por Pozzato, Mattia, Micaglio, Emanuele, Starvaggi Cucuzza, Chiara, Cagol, Alessandro, Galimberti, Daniela, Calandrella, Daniela, Cinnante, Claudia, Pappone, Carlo, Zanussi, Monica, Meola, Giovanni, Scarpini, Elio, Bresolin, Nereo, Martinelli Boneschi, Filippo
Publicado 2021

From early stress to 12-month development in very preterm infants: Preliminary findings on epigenetic mechanisms and brain growth

por Fumagalli, Monica, Provenzi, Livio, De Carli, Pietro, Dessimone, Francesca, Sirgiovanni, Ida, Giorda, Roberto, Cinnante, Claudia, Squarcina, Letizia, Pozzoli, Uberto, Triulzi, Fabio, Brambilla, Paolo, Borgatti, Renato, Mosca, Fabio, Montirosso, Rosario
Publicado 2018

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG

por Villa, Davide, Cinnante, Claudia, Valcamonica, Gloria, Manenti, Giulia, Lanfranconi, Silvia, Colombi, Annalisa, Ghione, Isabella, Saetti, Maria Cristina, D’Amico, Mario, Bonato, Sara, Bresolin, Nereo, Comi, Giacomo Pietro, Ronchi, Dario
Publicado 2020

Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

por Ronchi, Dario, Monfrini, Edoardo, Bonato, Sara, Mancinelli, Veronica, Cinnante, Claudia, Salani, Sabrina, Bordoni, Andreina, Ciscato, Patrizia, Fortunato, Francesco, Villa, Marianna, Di Fonzo, Alessio, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P.
Publicado 2020

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

por Mauri, Eleonora, Piga, Daniela, Govoni, Alessandra, Brusa, Roberta, Pagliarani, Serena, Ripolone, Michela, Dilena, Robertino, Cinnante, Claudia, Sciacco, Monica, Cassandrini, Denise, Nigro, Vincenzo, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P., Magri, Francesca
Publicado 2021