Search Results - Malandrini, Alessandro

Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1 by Verhoeven, Kristien, Villanova, Marcello, Rossi, Alessandro, Malandrini, Alessandro, De Jonghe, Peter, Timmerman, Vincent

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Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports by Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.

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Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration by Kruer, Michael C., Hiken, Mark, Gregory, Allison, Malandrini, Alessandro, Clark, David, Hogarth, Penny, Grafe, Marjorie, Hayflick, Susan J., Woltjer, Randall L.

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A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency by Da Pozzo, Paola, Cardaioli, Elena, Malfatti, Edoardo, Gallus, Gian Nicola, Malandrini, Alessandro, Gaudiano, Carmen, Berti, Gianna, Invernizzi, Federica, Zeviani, Massimo, Federico, Antonio

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Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants by Castiglioni, Claudia, Fattori, Fabiana, Udd, Bjarne, de los Angeles Avaria, Maria, Suarez, Bernardita, D’Amico, Adele, Malandrini, Alessandro, Carrozzo, Rosalba, Verrigni, Daniela, Bertini, Enrico, Tasca, Giorgio

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Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA) by Kruer, Michael C., Paisán-Ruiz, Coro, Boddaert, Nathalie, Yoon, Moon Y., Hama, Hiroko, Gregory, Allison, Malandrini, Alessandro, Woltjer, Randall L., Munnich, Arnold, Gobin, Stephanie, Polster, Brenda J., Palmeri, Silvia, Edvardson, Simon, Hardy, John, Houlden, Henry, Hayflick, Susan J.

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and managem... by Di Donato, Ilaria, Bianchi, Silvia, De Stefano, Nicola, Dichgans, Martin, Dotti, Maria Teresa, Duering, Marco, Jouvent, Eric, Korczyn, Amos D., Lesnik-Oberstein, Saskia A. J., Malandrini, Alessandro, Markus, Hugh S., Pantoni, Leonardo, Penco, Silvana, Rufa, Alessandra, Sinanović, Osman, Stojanov, Dragan, Federico, Antonio

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Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions by Denora, Paola S., Smets, Katrien, Zolfanelli, Federica, Ceuterick-de Groote, Chantal, Casali, Carlo, Deconinck, Tine, Sieben, Anne, Gonzales, Michael, Zuchner, Stephan, Darios, Frédéric, Peeters, Dirk, Brice, Alexis, Malandrini, Alessandro, De Jonghe, Peter, Santorelli, Filippo M., Stevanin, Giovanni, Martin, Jean-Jacques, El Hachimi, Khalid H.

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Next-generation sequencing approach to hyperCKemia: A 2-year cohort study by Rubegni, Anna, Malandrini, Alessandro, Dosi, Claudia, Astrea, Guja, Baldacci, Jacopo, Battisti, Carla, Bertocci, Giulia, Donati, M. Alice, Dotti, M. Teresa, Federico, Antonio, Giannini, Fabio, Grosso, Salvatore, Guerrini, Renzo, Lenzi, Sara, Maioli, Maria A., Melani, Federico, Mercuri, Eugenio, Sacchini, Michele, Salvatore, Simona, Siciliano, Gabriele, Tolomeo, Deborah, Tonin, Paola, Volpi, Nila, Santorelli, Filippo M., Cassandrini, Denise

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Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy by Duff, Rachael M., Tay, Valerie, Hackman, Peter, Ravenscroft, Gianina, McLean, Catriona, Kennedy, Paul, Steinbach, Alina, Schöffler, Wiebke, van der Ven, Peter F.M., Fürst, Dieter O., Song, Jaeguen, Djinović-Carugo, Kristina, Penttilä, Sini, Raheem, Olayinka, Reardon, Katrina, Malandrini, Alessandro, Gambelli, Simona, Villanova, Marcello, Nowak, Kristen J., Williams, David R., Landers, John E., Brown, Robert H., Udd, Bjarne, Laing, Nigel G.

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Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity by Tucci, Arianna, Kara, Eleanna, Schossig, Anna, Wolf, Nicole I., Plagnol, Vincent, Fawcett, Katherine, Paisán-Ruiz, Coro, Moore, Matthew, Hernandez, Dena, Musumeci, Sebastiano, Tennison, Michael, Hennekam, Raoul, Palmeri, Silvia, Malandrini, Alessandro, Raskin, Salmo, Donnai, Dian, Hennig, Corina, Tzschach, Andreas, Hordijk, Roel, Bast, Thomas, Wimmer, Katharina, Lo, Chien-Ning, Shorvon, Simon, Mefford, Heather, Eichler, Evan E., Hall, Roger, Hayes, Ian, Hardy, John, Singleton, Andrew, Zschocke, Johannes, Houlden, Henry

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NGS in Hereditary Ataxia: When Rare Becomes Frequent by 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

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Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients by Traschütz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan H., Bingman, Craig A., Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, de Jonghe, Peter, de Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, A. Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schöls, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, van de Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo M., Anheim, Mathieu, Munhoz, Renato P., Haack, Tobias, Distelmaier, Felix, Pagliarini, David J., Puccio, Hélène, Synofzik, Matthis

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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study by D'Amore, Angelica, Tessa, Alessandra, Casali, Carlo, Dotti, Maria Teresa, Filla, Alessandro, Silvestri, Gabriella, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Bruno, Irene, Cereda, Cristina, Dato, Clemente, Di Iorio, Giuseppe, Donadio, Vincenzo, Felicori, Monica, Fini, Nicola, Fiorillo, Chiara, Gallone, Salvatore, Gemignani, Federica, Gigli, Gian Luigi, Graziano, Claudio, Guerrini, Renzo, Gurrieri, Fiorella, Kariminejad, Ariana, Lieto, Maria, Marques LourenḈo, Charles, Malandrini, Alessandro, Mandich, Paola, Marcotulli, Christian, Mari, Francesco, Massacesi, Luca, Melone, Maria A. B., Mignarri, Andrea, Milone, Roberta, Musumeci, Olimpia, Pegoraro, Elena, Perna, Alessia, Petrucci, Antonio, Pini, Antonella, Pochiero, Francesca, Pons, Maria Roser, Ricca, Ivana, Rossi, Salvatore, Seri, Marco, Stanzial, Franco, Tinelli, Francesca, Toscano, Antonio, Valente, Mariarosaria, Federico, Antonio, Rubegni, Anna, Santorelli, Filippo Maria

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