Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study von Salemi, Michele, Cannarella, Rossella, Marchese, Giovanna, Salluzzo, Maria Grazia, Ravo, Maria, Barone, Concetta, Giudice, Mariangela Lo, Calogero, Aldo E., Romano, Corrado

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Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects von Salemi, Michele, Giambirtone, Mariaconcetta, Barone, Concetta, Salluzzo, Maria Grazia, Russo, Roberto, Giudice, Mariangela Lo, Cutuli, Salvatore, Ridolfo, Federico, Romano, Corrado

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The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study von Giuliano, Marika, Santa Paola, Sandro, Borgione, Eugenia, Lo Giudice, Mariangela, Di Blasi, Francesco Domenico, Pettinato, Rosa, Romano, Corrado, Scuderi, Carmela

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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies von Di Benedetto, Daniela, Di Vita, Giuseppa, Romano, Corrado, Giudice, Mariangela Lo, Vitello, Girolamo Aurelio, Zingale, Marinella, Grillo, Lucia, Castiglia, Lucia, Musumeci, Sebastiano Antonino, Fichera, Marco

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Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders von Santa Paola, Sandro, Di Blasi, Francesco Domenico, Borgione, Eugenia, Lo Giudice, Mariangela, Giuliano, Marika, Pettinato, Rosa, Di Stefano, Vincenzo, Brighina, Filippo, Lupica, Antonino, Scuderi, Carmela

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The Y831C Mutation of the POLG Gene in Dementia von Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Lanza, Giuseppe, Cantone, Mariagiovanna, Ferri, Raffaele, Scuderi, Carmela

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The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review von Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Di Blasi, Francesco Domenico, Di Stefano, Vincenzo, Lupica, Antonino, Brighina, Filippo, Pettinato, Rosa, Romano, Corrado, Scuderi, Carmela

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Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome von Di Benedetto, Daniela, Musumeci, Sebastiano Antonino, Avola, Emanuela, Alberti, Antonino, Buono, Serafino, Scuderi, Carmela, Grillo, Lucia, Galesi, Ornella, Spalletta, Angela, Giudice, Mariangela Lo, Luciano, Daniela, Vinci, Mirella, Bianca, Sebastiano, Romano, Corrado, Fichera, Marco

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A novel L1CAM mutation in a fetus detected by prenatal diagnosis von Piccione, Maria, Matina, Federico, Fichera, Marco, Lo Giudice, Mariangela, Damiani, Gianfranca, Jakil, Maria Cristina, Corsello, Giovanni

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Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex von Scuderi, Carmela, Borgione, Eugenia, Castello, Filippa, Lo Giudice, Mariangela, Fichera, Marco, Elia, Maurizio, Amato, Carmelo, Savio, Maria, Di Blasi, Francesco Domenico, Vitello, Girolamo Aurelio, Romano, Salvatore, DiMauro, Salvatore, Musumeci, Sebastiano Antonino

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes von Mefford, Heather C, Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, Huang, Shuwen, Maloney, Viv K, Crolla, John A, Baralle, Diana, Collins, Amanda, Mercer, Catherine, Norga, Koen, de Ravel, Thomy, Devriendt, Koen, Bongers, Ernie M.H.F, de Leeuw, Nicole, Reardon, William, Gimelli, Giorgio, Gimelli, Stefania, Bena, Frederique, Hennekam, Raoul C, Male, Alison, Gaunt, Lorraine, Clayton-Smith, Jill, Simonic, Ingrid, Park, Soo Mi, Mehta, Sarju G, Nik-Zainal, Serena, Woods, C. Geoffrey, Firth, Helen V, Parkin, Georgina, Fichera, Marco, Reitano, Santina, Giudice, Mariangela Lo, Li, Kelly E, Casuga, Iris, Broomer, Adam, Conrad, Bernard, Schwerzmann, Markus, Räber, Lorenz, Gallati, Sabina, Striano, Pasquale, Coppola, Antonietta, Tolmie, John L, Tobias, Edward S, Lilley, Chris, Armengol, Lluis, Spysschaert, Yves, Verloo, Patrick, De Coene, Anja, Goossens, Linde, Mortier, Geert, Speleman, Frank, van Binsbergen, Ellen, Nelen, Marcel R, Hochstenbach, Ron, Poot, Martin, Gallagher, Louise, Gill, Michael, McClellan, Jon, King, Mary-Claire, Regan, Regina, Skinner, Cindy, Stevenson, Roger E, Antonarakis, Stylianos E, Chen, Caifu, Estivill, Xavier, Menten, Björn, Gribble, Susan, Schwartz, Charles E, Schwartz, Stuart, Sutcliffe, James S, Walsh, Tom, Knight, Samantha J.L, Sebat, Jonathan, Romano, Corrado, Veltman, Joris A, de Vries, Bert B.A, Vermeesch, Joris R, Barber, John C.K, Willatt, Lionel, Tassabehji, May, Eichler, Evan E

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Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability von Scuderi, Carmela, Santa Paola, Sandro, Lo Giudice, Mariangela, Di Blasi, Francesco Domenico, Giusto, Stefania, Di Vita, Giuseppa, Pettinato, Rosa, Vitello, Girolamo Aurelio, Romano, Corrado, Buono, Serafino, Salpietro, Vincenzo, Houlden, Henry, Borgione, Eugenia

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The Y831C Mutation of the IPOLG/I Gene in Dementia von Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Lanza, Giuseppe, Cantone, Mariagiovanna, Ferri, Raffaele, Scuderi, Carmela

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The Mitochondrial tRNA Ser(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review von Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Di Blasi, Francesco Domenico, Di Stefano, Vincenzo, Lupica, Antonino, Brighina, Filippo, Pettinato, Rosa, Romano, Corrado, Scuderi, Carmela

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The Mitochondrial tRNA[sup.Ser] Gene: A Novel m.7484AG Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review von Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Di Blasi, Francesco Domenico, Di Stefano, Vincenzo, Lupica, Antonino, Brighina, Filippo, Pettinato, Rosa, Romano, Corrado, Scuderi, Carmela

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The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review von Scuderi, Carmela, Borgione, Eugenia, Castello, Filippa, Lo Giudice, Mariangela, Santa Paola, Sandro, Giambirtone, Mariaconcetta, Di Blasi, Francesco Domenico, Elia, Maurizio, Amato, Carmelo, Città, Santina, Gagliano, Catalda, Barbarino, Giuliano, Vitello, Girolamo Aurelio, Musumeci, Sebastiano Antonino

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Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene von Fichera, Marco, Silengo, Margherita, Spalletta, Angela, Lo Giudice, Mariangela, Romano, Corrado, Ragusa, Angela

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Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)? von Borgione, Eugenia, Castello, Filippa, Lo Giudice, Mariangela, Santa Paola, Sandro, Salvatore, Simona, Berti, Gianna, Malandrini, Alessandro, Bottitta, Maria, Musumeci, Sebastiano Antonino, Scuderi, Carmela

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The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations? von Borgione, Eugenia, Lo Giudice, Mariangela, Castello, Filippa, Musumeci, Sebastiano A., Di Blasi, Francesco D., Savio, Maria, Elia, Maurizio, Rizzo, Biagio, Barbarino, Giuliano, Romano, Salvatore, Calabrese, Giuseppe, Di Benedetto, Daniela, Scuderi, Carmela

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Denaturing HPLC-based assay for detection of ATRX gene mutations von Falco, Michele, Luciano, Daniela, Sturnio, Maurizio, Spalletta, Angela, Scionti, Domenico, Lo Giudice, Mariangela, Romano, Corrado, Fichera, Marco

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