Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview
Caciotti, Anna, Melani, Federico, Tonin, Rodolfo, Cellai, Lucrezia, Catarzi, Serena, Procopio, Elena, Chilleri, Chiara, Mavridou, Irene, Michelakakis, Helen, Fioravanti, Antonella, d’Azzo, Alessandra, Guerrini, Renzo, Morrone, Amelia
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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SARS-CoV-2 infection in a patient with propionic acidemia
Caciotti, Anna, Procopio, Elena, Pochiero, Francesca, Falliano, Silvia, Indolfi, Giuseppe, Donati, Maria Alice, Ferri, Lorenzo, Guerrini, Renzo, Morrone, Amelia
Published in Orphanet journal of rare diseases (28.10.2020)
Published in Orphanet journal of rare diseases (28.10.2020)
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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Garone, Caterina, D'Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Maria Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Massimo, Calvo, Sarah E, Mootha, Vamsi K, DiMauro, Salvatore, Ferrero, Ileana, Minczuk, Michal
Published in Human molecular genetics (01.11.2017)
Published in Human molecular genetics (01.11.2017)
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Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
Ardissone, Anna, Bruno, Claudio, Diodato, Daria, Donati, Alice, Ghezzi, Daniele, Lamantea, Eleonora, Lamperti, Costanza, Mancuso, Michelangelo, Martinelli, Diego, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Santorelli, Filippo, Schiaffino, Maria Cristina, Servidei, Serenella, Tubili, Flavia, Bertini, Enrico, Moroni, Isabella
Published in Orphanet journal of rare diseases (09.10.2021)
Published in Orphanet journal of rare diseases (09.10.2021)
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Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders
Brambilla, Alice, Olivotto, Iacopo, Favilli, Silvia, Spaziani, Gaia, Passantino, Silvia, Procopio, Elena, Morrone, Amelia, Donati, Maria Alice
Published in Orphanet journal of rare diseases (31.07.2020)
Published in Orphanet journal of rare diseases (31.07.2020)
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Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy
Porta, Francesco, Maiorana, Arianna, Gragnaniello, Vincenza, Procopio, Elena, Gasperini, Serena, Taurisano, Roberta, Spada, Marco, Dionisi-Vici, Carlo, Burlina, Alberto
Published in Italian journal of pediatrics (07.10.2024)
Published in Italian journal of pediatrics (07.10.2024)
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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
Vecchia, Stefania Della, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo Maria
Published in Journal of neurology (01.01.2022)
Published in Journal of neurology (01.01.2022)
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Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
Tonin, Rodolfo, Feo, Federica, Falliano, Silvia, Giunti, Laura, Calamai, Martino, Procopio, Elena, Mari, Francesco, Sciruicchio, Vittorio, Conti, Valerio, Fanelli, Ilaria, Bambi, Franco, Guerrini, Renzo, Morrone, Amelia
Published in Stem cell research (01.06.2024)
Published in Stem cell research (01.06.2024)
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Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector
Tonin, Rodolfo, Feo, Federica, Falliano, Silvia, Ferri, Lorenzo, Giunti, Laura, Calamai, Martino, Procopio, Elena, Mari, Francesco, Conti, Valerio, Fanelli, Ilaria, Bambi, Franco, Guerrini, Renzo, Morrone, Amelia
Published in Stem cell research (01.12.2023)
Published in Stem cell research (01.12.2023)
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Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy
Fiumara, Agata, Sapuppo, Annamaria, Gasperini, Serena, Crescitelli, Viola, Sacchini, Michele, Procopio, Elena, Gragnaniello, Vincenza, Burlina, Alberto
Published in Molecular genetics and metabolism reports (01.09.2024)
Published in Molecular genetics and metabolism reports (01.09.2024)
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Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations
Rosati, Anna, Berti, Beatrice, Melani, Federico, Cellini, Elena, Procopio, Elena, Guerrini, Renzo
Published in Developmental medicine and child neurology (01.08.2015)
Published in Developmental medicine and child neurology (01.08.2015)
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Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report
Peluso, Francesca, Palazzo, Viviana, Indolfi, Giuseppe, Mari, Francesco, Pasqualetti, Roberta, Procopio, Elena, Nesti, Claudia, Guerrini, Renzo, Santorelli, Filippo, Giglio, Sabrina
Published in BMC medical genomics (21.01.2021)
Published in BMC medical genomics (21.01.2021)
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Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature
Barbato, Alessandro, Gori, Giulia, Sacchini, Michele, Pochiero, Francesca, Bargiacchi, Sara, Traficante, Giovanna, Palazzo, Viviana, Tiberi, Lucia, Bianchini, Claudia, Mei, Davide, Parrini, Elena, Pisano, Tiziana, Procopio, Elena, Guerrini, Renzo, Peron, Angela, Stagi, Stefano
Published in Endocrine Connections (01.10.2024)
Published in Endocrine Connections (01.10.2024)
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Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review
Mari, Francesco, Berti, Beatrice, Romano, Alessandro, Baldacci, Jacopo, Rizzi, Riccardo, Grazia Alessandrì, M., Tessa, Alessandra, Procopio, Elena, Rubegni, Anna, Lourenḉo, Charles Marques, Simonati, Alessandro, Guerrini, Renzo, Santorelli, Filippo Maria
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
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Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort
Passantino, Silvia, Chiellino, Serena, Girolami, Francesca, Zampieri, Mattia, Calabri, Giovanni Battista, Spaziani, Gaia, Bennati, Elena, Porcedda, Giulio, Procopio, Elena, Olivotto, Iacopo, Favilli, Silvia
Published in Diagnostics (Basel) (15.12.2023)
Published in Diagnostics (Basel) (15.12.2023)
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Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
Manara, Renzo, Priante, Elena, Grimaldi, Marco, Santoro, Lucia, Astarita, Luca, Barone, Rita, Concolino, Daniela, Di Rocco, Maja, Donati, Maria Alice, Fecarotta, Simona, Ficcadenti, Anna, Fiumara, Agata, Furlan, Francesca, Giovannini, Irene, Lilliu, Franco, Mardari, Rodica, Polonara, Gabriele, Procopio, Elena, Rampazzo, Angelica, Rossi, Andrea, Sanna, Graziolina, Parini, Rossella, Scarpa, Maurizio
Published in Journal of inherited metabolic disease (01.06.2011)
Published in Journal of inherited metabolic disease (01.06.2011)
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Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature
Miselli, Francesca, Brambilla, Alice, Calabri, Giovanni Battista, Favilli, Silvia, Sanvito, Maria Chiara, Ragni, Luca, Torcetta, Francesco, Rossi, Katia, Donati, Maria Alice, Procopio, Elena
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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