Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

por Scelsa, Barbara, Gasperini, Serena, Righini, Andrea, Iascone, Maria, Brazzoduro, Valeria G., Veggiotti, Pierangelo
Publicado 2019

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

por Mio, Catia, Fogolari, Federico, Pezzoli, Laura, D’Elia, Angela V., Iascone, Maria, Damante, Giuseppe
Publicado 2020

Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

por Bossi, Grazia, Giordano, Giuseppe, Rispoli, Gaetana Anna, Maggiore, Giuseppe, Naturale, Mauro, Marchetti, Daniela, Iascone, Maria
Publicado 2017

Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy

por Solazzi, Roberta, Moscatelli, Marco, Sebastiano, Davide Rossi, Canafoglia, Laura, Pezzoli, Laura, Iascone, Maria, Granata, Tiziana
Publicado 2022

Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

por Previtali, Roberto, Leidi, Alessia, Basso, Martina, Izzo, Giana, Stignani, Cecilia, Spaccini, Luigina, Iascone, Maria, Veggiotti, Pierangelo, Bova, Stefania Maria
Publicado 2023

Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature

por Militaru, Sebastian, Adam, Robert, Dorobantu, Lucian, Ferrazzi, Paolo, Iascone, Maria, Radoi, Viorica, Gener, Ismail, Popescu, Bogdan A., Jurcut, Ruxandra
Publicado 2019

A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

por Ruscitti, Federica, Trevisan, Lucia, Rosti, Giulia, Gotta, Fabio, Cianflone, Annalia, Geroldi, Alessandro, Origone, Paola, Pichiecchio, Anna, Viglio, Simona, Iascone, Maria, Mandich, Paola
Publicado 2021

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation

por Sana, Maria Elena, Quilliam, Lawrence A., Spitaleri, Andrea, Pezzoli, Laura, Marchetti, Daniela, Lodrini, Chiara, Candiago, Elisabetta, Lincesso, Anna Rita, Ferrazzi, Paolo, Iascone, Maria
Publicado 2016

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

A contemporary European experience with surgical septal myectomy in hypertrophic cardiomyopathy

por Iacovoni, Attilio, Spirito, Paolo, Simon, Caterina, Iascone, Maria, Di Dedda, Giovanni, De Filippo, Paolo, Pentiricci, Samuele, Boni, Luca, Senni, Michele, Gavazzi, Antonello, Ferrazzi, Paolo
Publicado 2012

Infantile ATP7B-Related End-Stage Liver Disease: An Exceptional Wilson Disease Phenotype From Consecutive Generations

por Nicastro, Emanuele, Iascone, Maria, Di Giorgio, Angelo, Brecelj, Jernej, Petruzzelli, Raffaella, Polishchuk, Roman S., Deheragoda, Maesha, Wagner, Bart E., Sonzogni, Aurelio, Bonanomi, Ezio, D’Antiga, Lorenzo
Publicado 2021

Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications

por Girolami, Francesca, Frisso, Giulia, Benelli, Matteo, Crotti, Lia, Iascone, Maria, Mango, Ruggiero, Mazzaccara, Cristina, Pilichou, Kalliope, Arbustini, Eloisa, Tomberli, Benedetta, Limongelli, Giuseppe, Basso, Cristina, Olivotto, Iacopo
Publicado 2018

A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis

por Spinelli, Valentina, Girolami, Francesca, Marrone, Chiara, Consigli, Veronica, Iascone, Maria, Passantino, Silvia, Porcedda, Giulio, Calabri, Giovanni Battista, De Simone, Luciano, Olivotto, Iacopo, Santoro, Giuseppe, Favilli, Silvia
Publicado 2020

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

por Rosina, Erica, Pezzani, Lidia, Pezzoli, Laura, Marchetti, Daniela, Bellini, Matteo, Pilotta, Alba, Calabrese, Olga, Nicastro, Emanuele, Cirillo, Francesco, Cereda, Anna, Scatigno, Agnese, Milani, Donatella, Iascone, Maria
Publicado 2022

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

por Beltrami, Benedetta, Cerasani, Jacopo, Consales, Alessandra, Villa, Roberta, Resta, Nicoletta, Loconte, Daria Carmela, Boito, Simona, Caschera, Luca, Bassi, Laura, Colombo, Lorenzo, Iascone, Maria, Bedeschi, Maria Francesca
Publicado 2022

Menkes disease complicated by concurrent ACY1 deficiency: A case report

por Mauri, Alessia, Saielli, Laura Assunta, Alfei, Enrico, Iascone, Maria, Marchetti, Daniela, Cattaneo, Elisa, Di Lauro, Anna, Antonelli, Laura, Alberti, Luisella, Bonaventura, Eleonora, Veggiotti, Pierangelo, Spaccini, Luigina, Cereda, Cristina
Publicado 2023

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

por Hayesmoore, Jesse B., Bhuiyan, Zahurul A., Coviello, Domenico A., du Sart, Desirée, Edwards, Matthew, Iascone, Maria, Morris-Rosendahl, Deborah J., Sheils, Katie, van Slegtenhorst, Marjon, Thomson, Kate L.
Publicado 2023

Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

por Faraguna, Martha Caterina, Musto, Francesca, Crescitelli, Viola, Iascone, Maria, Spaccini, Luigina, Tonduti, Davide, Fedeli, Tiziana, Kullmann, Gaia, Canonico, Francesco, Cattoni, Alessandro, Dell’Acqua, Fabiola, Rizzari, Carmelo, Gasperini, Serena
Publicado 2022

DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort

por Di Lorenzo, Francesca, Marchionni, Enrica, Ferradini, Valentina, Latini, Andrea, Pezzoli, Laura, Martino, Annamaria, Romeo, Fabiana, Iorio, Annamaria, Bianchi, Stefano, Iascone, Maria, Calò, Leonardo, Novelli, Giuseppe, Mango, Ruggiero, Sangiuolo, Federica
Publicado 2023

FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy

por Masnada, Silvia, Previtali, Roberto, Erba, Paola, Beretta, Elena, Camporesi, Anna, Chiapparini, Luisa, Doneda, Chiara, Iascone, Maria, Sartorio, Marco U. A., Spaccini, Luigina, Veggiotti, Pierangelo, Osio, Maurizio, Tonduti, Davide, Moroni, Isabella
Publicado 2023