Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses

por Rigoldi, Miriam, Verrecchia, Elena, Manna, Raffaele, Mascia, Maria Teresa
Publicado 2018

Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases

por Grioni, Daniele, Landi, Andrea, Gasperini, Serena, Trezza, Andrea, Fiori, Leonardo, Rigoldi, Miriam, Parini, Rossella, Sganzerla, Erik Pietro
Publicado 2015

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

por Conconi, Donatella, Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Crosti, Francesca, Maitz, Silva, Rigoldi, Miriam, Parini, Rossella, Dalprà, Leda, Lavitrano, Marialuisa, Roversi, Gaia
Publicado 2018

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

por Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela
Publicado 2019

CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome

por Piras, Rossella, Valoti, Elisabetta, Alberti, Marta, Bresin, Elena, Mele, Caterina, Breno, Matteo, Liguori, Lucia, Donadelli, Roberta, Rigoldi, Miriam, Benigni, Ariela, Remuzzi, Giuseppe, Noris, Marina
Publicado 2023

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

por Caciotti, Anna, Tonin, Rodolfo, Mort, Matthew, Cooper, David N., Gasperini, Serena, Rigoldi, Miriam, Parini, Rossella, Deodato, Federica, Taurisano, Roberta, Sibilio, Michelina, Parenti, Giancarlo, Guerrini, Renzo, Morrone, Amelia
Publicado 2018

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

por Cavicchi, Catia, Donati, Maria Alice, Parini, Rossella, Rigoldi, Miriam, Bernardi, Mauro, Orfei, Francesca, Gentiloni Silveri, Nicolò, Colasante, Aniello, Funghini, Silvia, Catarzi, Serena, Pasquini, Elisabetta, la Marca, Giancarlo, Mooney, Sean David, Guerrini, Renzo, Morrone, Amelia
Publicado 2014

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

por Furlan, Francesca, Rovelli, Attilio, Rigoldi, Miriam, Filocamo, Mirella, Tappino, Barbara, Friday, Douglas, Gasperini, Serena, Mariani, Silvana, Izzi, Claudia, Bondioni, Maria Pia, Gellera, Cinzia, Venerando, Anna, Villa, Nicoletta, del Carmen Rodriguez Perez, Maria, Pavan, Fabio, Biondi, Andrea, Parini, Rossella
Publicado 2018

A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by Neanderthals

por Breno, Matteo, Noris, Marina, Rubis, Nadia, Parvanova, Aneliya Ilieva, Martinetti, Davide, Gamba, Sara, Liguori, Lucia, Mele, Caterina, Piras, Rossella, Orisio, Silvia, Valoti, Elisabetta, Alberti, Marta, Diadei, Olimpia, Bresin, Elena, Rigoldi, Miriam, Prandini, Silvia, Gamba, Tiziano, Stucchi, Nadia, Carrara, Fabiola, Daina, Erica, Benigni, Ariela, Remuzzi, Giuseppe
Publicado 2023

Hepatocellular carcinoma in Gaucher disease: an international case series

por Regenboog, Martine, van Dussen, Laura, Verheij, Joanne, Weinreb, Neal J., Santosa, David, vom Dahl, Stephan, Häussinger, Dieter, Müller, Meike N., Canbay, Ali, Rigoldi, Miriam, Piperno, Alberto, Dinur, Tama, Zimran, Ari, Mistry, Pramod K., Salah, Karima Yousfi, Belmatoug, Nadia, Kuter, David J., Hollak, Carla E. M.
Publicado 2018

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

por Rossi, Alessandro, Hoogeveen, Irene J., Bastek, Vanessa B., de Boer, Foekje, Montanari, Chiara, Meyer, Uta, Maiorana, Arianna, Bordugo, Andrea, Dianin, Alice, Campana, Carmen, Rigoldi, Miriam, Kishnani, Priya S., Pendyal, Surekha, Strisciuglio, Pietro, Gasperini, Serena, Parenti, Giancarlo, Parini, Rossella, Paci, Sabrina, Melis, Daniela, Derks, Terry G. J.
Publicado 2020

Genotype-phenotype correlation in Pompe disease, a step forward

por De Filippi, Paola, Saeidi, Kolsoum, Ravaglia, Sabrina, Dardis, Andrea, Angelini, Corrado, Mongini, Tiziana, Morandi, Lucia, Moggio, Maurizio, Di Muzio, Antonio, Filosto, Massimiliano, Bembi, Bruno, Giannini, Fabio, Marrosu, Giovanni, Rigoldi, Miriam, Tonin, Paola, Servidei, Serenella, Siciliano, Gabriele, Carlucci, Annalisa, Scotti, Claudia, Comelli, Mario, Toscano, Antonio, Danesino, Cesare
Publicado 2014

Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients

por Parini, Rossella, Rigoldi, Miriam, Tedesco, Lucia, Boffi, Lucia, Brambilla, Alessandra, Bertoletti, Sara, Boncimino, Agata, Del Longo, Alessandra, De Lorenzo, Paola, Gaini, Renato, Gallone, Denise, Gasperini, Serena, Giussani, Carlo, Grimaldi, Marco, Grioni, Daniele, Meregalli, Pamela, Messinesi, Grazia, Nichelli, Francesca, Romagnoli, Marco, Russo, Pierluigi, Sganzerla, Erik, Valsecchi, Grazia, Biondi, Andrea
Publicado 2015

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

por Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, la Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia
Publicado 2021

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

por Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Publicado 2018

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

por De Filippi, Paola, Errichiello, Edoardo, Toscano, Antonio, Mongini, Tiziana, Moggio, Maurizio, Ravaglia, Sabrina, Filosto, Massimiliano, Servidei, Serenella, Musumeci, Olimpia, Giannini, Fabio, Piperno, Alberto, Siciliano, Gabriele, Ricci, Giulia, Di Muzio, Antonio, Rigoldi, Miriam, Tonin, Paola, Croce, Michele Giovanni, Pegoraro, Elena, Politano, Luisa, Maggi, Lorenzo, Telese, Roberta, Lerario, Alberto, Sancricca, Cristina, Vercelli, Liliana, Semplicini, Claudio, Pasanisi, Barbara, Bembi, Bruno, Dardis, Andrea, Palmieri, Ilaria, Cereda, Cristina, Valente, Enza Maria, Danesino, Cesare
Publicado 2023