检索结果 - Malandrini, Alessandro

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