Resultats de la cerca - Malandrini, Alessandro

Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1 per 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 per 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 per 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 per 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 per 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) per 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... per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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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