Canlyniadau Chwilio - Uziel, Graziella

MR Findings in Leigh Syndrome with COX Deficiency and SURF-1 Mutations gan Farina, Laura, Chiapparini, Luisa, Uziel, Graziella, Bugiani, Marianna, Zeviani, Massimo, Savoiardo, Mario

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A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature gan Ardissone, Anna, Lamantea, Eleonora, Quartararo, Jade, Dallabona, Cristina, Carrara, Franco, Moroni, Isabella, Donnini, Claudia, Garavaglia, Barbara, Zeviani, Massimo, Uziel, Graziella

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Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor gan Ghezzi, Daniele, Sevrioukova, Irina, Invernizzi, Federica, Lamperti, Costanza, Mora, Marina, D'Adamo, Pio, Novara, Francesca, Zuffardi, Orsetta, Uziel, Graziella, Zeviani, Massimo

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Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations gan Orthmann-Murphy, Jennifer L., Salsano, Ettore, Abrams, Charles K., Bizzi, Alberto, Uziel, Graziella, Freidin, Mona M., Lamantea, Eleonora, Zeviani, Massimo, Scherer, Steven S., Pareyson, Davide

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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms gan Salsano, Ettore, Tabano, Silvia, Sirchia, Silvia M, Colapietro, Patrizia, Castellotti, Barbara, Gellera, Cinzia, Rimoldi, Marco, Pensato, Viviana, Mariotti, Caterina, Pareyson, Davide, Miozzo, Monica, Uziel, Graziella

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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants gan Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea

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Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations gan Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David N, Filocamo, Mirella

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders gan Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Roberta Cilio, Maria, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria

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Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C gan Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D’Amico, Adele, Dionisi-Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, Andria, Generoso

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Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency gan Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo

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