Genotype-phenotype correlations in recessive titinopathies
Savarese, Marco, Vihola, Anna, Oates, Emily C, Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Díaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-García, Ricardo, Sáenz, Amets, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Välipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo López, Pane, Marika, Mercuri, Eugenio, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bruno, Claudio, Kuntzer, Thierry, Illa, Isabel, Vílchez, Juan J, Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis
Lopergolo, Diego, Berti, Gianna, Mari, Francesca, Bertini, Enrico, Rufa, Alessandra, Battisti, Carla, Sicurelli, Francesco, Renieri, Alessandra, Federico, Antonio, Sandhoff, Konrad, Malandrini, Alessandro
Published in Neurological sciences (01.04.2022)
Published in Neurological sciences (01.04.2022)
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NGS in Hereditary Ataxia: When Rare Becomes Frequent
Galatolo, Daniele, De Michele, Giovanna, Silvestri, Gabriella, Leuzzi, Vincenzo, Casali, Carlo, Musumeci, Olimpia, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Caputi, Caterina, Cioffi, Ettore, De Michele, Giuseppe, Dotti, Maria Teresa, Fico, Tommasina, Fiorillo, Chiara, Galosi, Serena, Lieto, Maria, Malandrini, Alessandro, Melone, Marina A. B., Mignarri, Andrea, Natale, Gemma, Pegoraro, Elena, Petrucci, Antonio, Ricca, Ivana, Riso, Vittorio, Rossi, Salvatore, Rubegni, Anna, Scarlatti, Arianna, Tinelli, Francesca, Trovato, Rosanna, Tedeschi, Gioacchino, Tessa, Alessandra, Filla, Alessandro, Santorelli, Filippo Maria
Published in International journal of molecular sciences (06.08.2021)
Published in International journal of molecular sciences (06.08.2021)
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Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions
Formichi, Patrizia, Cardone, Nastasia, Taglia, Ilaria, Cardaioli, Elena, Salvatore, Simona, Gerfo, Annalisa Lo, Simoncini, Costanza, Montano, Vincenzo, Siciliano, Gabriele, Mancuso, Michelangelo, Malandrini, Alessandro, Federico, Antonio, Dotti, Maria Teresa
Published in Neurological sciences (01.12.2020)
Published in Neurological sciences (01.12.2020)
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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing
Marinella, Gemma, Astrea, Guja, Buchignani, Bianca, Cassandrini, Denise, Doccini, Stefano, Filosto, Massimiliano, Galatolo, Daniele, Gallone, Salvatore, Giannini, Fabio, Lopergolo, Diego, Maioli, Maria Antonietta, Magri, Francesca, Malandrini, Alessandro, Mandich, Paola, Mari, Francesco, Massa, Roberto, Mata, Sabrina, Melani, Federico, Moggio, Maurizio, Mongini, Tiziana E, Pasquariello, Rosa, Pegoraro, Elena, Ricci, Federica, Ricci, Giulia, Rodolico, Carmelo, Rubegni, Anna, Siciliano, Gabriele, Sperti, Martina, Ticci, Chiara, Tonin, Paola, Santorelli, Filippo M, Battini, Roberta
Published in International journal of molecular sciences (23.11.2022)
Published in International journal of molecular sciences (23.11.2022)
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Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum
Grosso, Salvatore, Carluccio, Maria Alessandra, Cardaioli, Elena, Cerase, Alfonso, Malandrini, Alessandro, Romano, Chiara, Federico, Antonio, Dotti, Maria Teresa
Published in Brain & development (Tokyo. 1979) (01.03.2017)
Published in Brain & development (Tokyo. 1979) (01.03.2017)
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Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
DUFF, Rachael M, TAY, Valerie, SONG, Jaeguen, DJINOVIC-CARUGO, Kristina, PENTTILÄ, Sini, RAHEEM, Olayinka, REARDON, Katrina, MALANDRINI, Alessandro, GAMBELLI, Simona, VILLANOVA, Marcello, NOWAK, Kristen J, WILLIAMS, David R, HACKMAN, Peter, LANDERS, John E, BROWN, Robert H, UDD, Bjarne, LAING, Nigel G, RAVENSCROFT, Gianina, MCLEAN, Catriona, KENNEDY, Paul, STEINBACH, Alina, SCHÖFFLER, Wiebke, VAN DER VEN, Peter F. M, FÜRST, Dieter O
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
Aguti, Sara, Gallus, Gian Nicola, Bianchi, Silvia, Salvatore, Simona, Rubegni, Anna, Berti, Gianna, Formichi, Patrizia, De Stefano, Nicola, Malandrini, Alessandro, Lopergolo, Diego
Published in Cells (Basel, Switzerland) (01.02.2024)
Published in Cells (Basel, Switzerland) (01.02.2024)
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CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy
Lopergolo, Diego, Gallus, Gian Nicola, Pieraccini, Giuseppe, Boscaro, Francesca, Berti, Gianna, Serni, Giovanni, Volpi, Nila, Formichi, Patrizia, Bianchi, Silvia, Cassandrini, Denise, Sorrentino, Vincenzo, Rossi, Daniela, Santorelli, Filippo Maria, De Stefano, Nicola, Malandrini, Alessandro
Published in Cells (Basel, Switzerland) (08.09.2024)
Published in Cells (Basel, Switzerland) (08.09.2024)
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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies
Dosi, Claudia, Rubegni, Anna, Baldacci, Jacopo, Galatolo, Daniele, Doccini, Stefano, Astrea, Guja, Berardinelli, Angela, Bruno, Claudio, Bruno, Giorgia, Comi, Giacomo Pietro, Donati, Maria Alice, Dotti, Maria Teresa, Filosto, Massimiliano, Fiorillo, Chiara, Giannini, Fabio, Gigli, Gian Luigi, Grandis, Marina, Lopergolo, Diego, Magri, Francesca, Maioli, Maria Antonietta, Malandrini, Alessandro, Massa, Roberto, Matà, Sabrina, Melani, Federico, Messina, Sonia, Mignarri, Andrea, Moggio, Maurizio, Pennisi, Elena Maria, Pegoraro, Elena, Ricci, Giulia, Sacchini, Michele, Schenone, Angelo, Sampaolo, Simone, Sciacco, Monica, Siciliano, Gabriele, Tasca, Giorgio, Tonin, Paola, Tupler, Rossella, Valente, Mariarosaria, Volpi, Nila, Cassandrini, Denise, Santorelli, Filippo Maria
Published in Genes (23.01.2023)
Published in Genes (23.01.2023)
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Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism
Mignarri, Andrea, Malandrini, Alessandro, Del Puppo, Marina, Magni, Alessandro, Monti, Lucia, Ginanneschi, Federica, Tessa, Alessandra, Santorelli, Filippo Maria, Federico, Antonio, Dotti, Maria Teresa
Published in Journal of neurology (01.03.2014)
Published in Journal of neurology (01.03.2014)
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A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Manfredi, Michela, Malandrini, Alessandro, Rampoldi, Luca, Ferrer, Xavier, Brown, Robert, Rudolf, Gabrielle, Németh, Andrea H, Alonso, Elisa, Vance, Jeffery, Wood, Nicholas W, Carrè, Sophie, Dobson-Stone, Carol, Danek, Adrian, Monaco, Anthony P, Rubio, Justin P, Verellen, Christine, Pericak-Vance, Margaret, Chalmers, Richard M, Fabrizi, Gian M
Published in Nature genetics (01.06.2001)
Published in Nature genetics (01.06.2001)
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McLeod neuroacanthocytosis: Genotype and phenotype
Danek, Adrian, Rubio, Justin P., Rampoldi, Luca, Ho, Mengfatt, Dobson-Stone, Carol, Tison, François, Symmans, William A., Oechsner, Matthias, Kalckreuth, Wolfgang, Watt, Julie M., Corbett, Alastair J., Hamdalla, Hisham H. M., Marshall, Andrew G., Sutton, Ian, Dotti, Maria Teresa, Malandrini, Alessandro, Walker, Ruth H., Daniels, Geoff, Monaco, Anthony P.
Published in Annals of neurology (01.12.2001)
Published in Annals of neurology (01.12.2001)
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Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
Squillaro, Tiziana, Cambi, Franca, Ciacci, Giuseppe, Rossi, Simone, Ulivelli, Monica, Malandrini, Alessandro, Mencarelli, Maria Antonietta, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Published in Journal of human genetics (01.03.2007)
Published in Journal of human genetics (01.03.2007)
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Erratum to: The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
Pollazzon, Marzia, Suominen, Tiina, Penttilä, Sini, Malandrini, Alessandro, Carluccio, Maria Alessandra, Mondelli, Mauro, Marozza, Annabella, Federico, Antonio, Renieri, Alessandra, Hackman, Peter, Dotti, Maria Teresa, Udd, Bjarne
Published in Journal of neurology (01.04.2010)
Published in Journal of neurology (01.04.2010)
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Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1
Verhoeven, Kristien, Villanova, Marcello, Rossi, Alessandro, Malandrini, Alessandro, De Jonghe, Peter, Timmerman, Vincent
Published in American journal of human genetics (01.10.2001)
Published in American journal of human genetics (01.10.2001)
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Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis
Malandrini, Alessandro, Gambelli, Simona, Muglia, Maria, Berti, Gianna, Gaudiano, Carmen, Patitucci, Alessandra, Sugie, Kazuma, Umehara, Fujio, Quattrone, Aldo, Dotti, Maria Teresa, Federico, Antonio
Published in Brain & development (Tokyo. 1979) (01.04.2008)
Published in Brain & development (Tokyo. 1979) (01.04.2008)
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Nerve growth factor expression in human dystrophic muscles
Toti, Paolo, Villanova, Marcello, Vatti, Rosella, Schuerfeld, Karin, Stumpo, Michela, Barbagli, Letizia, Malandrini, Alessandro, Costantini, Maurizio
Published in Muscle & nerve (01.03.2003)
Published in Muscle & nerve (01.03.2003)
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