Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study
Salemi, Michele, Cannarella, Rossella, Marchese, Giovanna, Salluzzo, Maria Grazia, Ravo, Maria, Barone, Concetta, Giudice, Mariangela Lo, Calogero, Aldo E., Romano, Corrado
Published in Human cell : official journal of Human Cell Research Society (01.11.2021)
Published in Human cell : official journal of Human Cell Research Society (01.11.2021)
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Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects
Salemi, Michele, Giambirtone, Mariaconcetta, Barone, Concetta, Salluzzo, Maria Grazia, Russo, Roberto, Giudice, Mariangela Lo, Cutuli, Salvatore, Ridolfo, Federico, Romano, Corrado
Published in Human cell : official journal of Human Cell Research Society (01.04.2018)
Published in Human cell : official journal of Human Cell Research Society (01.04.2018)
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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
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
Published in Molecular cytogenetics (17.01.2013)
Published in Molecular cytogenetics (17.01.2013)
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Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders
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
Published in Genes (01.01.2024)
Published in Genes (01.01.2024)
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The Y831C Mutation of the POLG Gene in Dementia
Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Lanza, Giuseppe, Cantone, Mariagiovanna, Ferri, Raffaele, Scuderi, Carmela
Published in Biomedicines (13.04.2023)
Published in Biomedicines (13.04.2023)
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The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
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
Published in Life (Basel, Switzerland) (16.02.2023)
Published in Life (Basel, Switzerland) (16.02.2023)
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Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome
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
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia
Lo Giudice, Mariangela, Neri, Marcella, Falco, Michele, Sturnio, Maurizio, Calzolari, Elisa, Di Benedetto, Daniela, Fichera, Marco
Published in Archives of neurology (Chicago) (01.02.2006)
Published in Archives of neurology (Chicago) (01.02.2006)
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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
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
Published in The New England journal of medicine (16.10.2008)
Published in The New England journal of medicine (16.10.2008)
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Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability
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
Published in Research in autism spectrum disorders (01.02.2023)
Published in Research in autism spectrum disorders (01.02.2023)
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The Y831C Mutation of the IPOLG/I Gene in Dementia
Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Lanza, Giuseppe, Cantone, Mariagiovanna, Ferri, Raffaele, Scuderi, Carmela
Published in Biomedicines (01.04.2023)
Published in Biomedicines (01.04.2023)
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The Mitochondrial tRNA Ser(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
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
Published in Life (Basel, Switzerland) (16.02.2023)
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Published in Life (Basel, Switzerland) (16.02.2023)
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The Mitochondrial tRNA[sup.Ser] Gene: A Novel m.7484AG Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
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
Published in Life (Basel, Switzerland) (01.02.2023)
Published in Life (Basel, Switzerland) (01.02.2023)
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The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
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
Published in Neuromuscular disorders : NMD (01.04.2015)
Published in Neuromuscular disorders : NMD (01.04.2015)
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Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Borgione, Eugenia, Castello, Filippa, Lo Giudice, Mariangela, Santa Paola, Sandro, Salvatore, Simona, Berti, Gianna, Malandrini, Alessandro, Bottitta, Maria, Musumeci, Sebastiano Antonino, Scuderi, Carmela
Published in Neurological sciences (01.05.2016)
Published in Neurological sciences (01.05.2016)
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The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?
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
Published in Neurological sciences (01.07.2013)
Published in Neurological sciences (01.07.2013)
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Denaturing HPLC-based assay for detection of ATRX gene mutations
Falco, Michele, Luciano, Daniela, Sturnio, Maurizio, Spalletta, Angela, Scionti, Domenico, Lo Giudice, Mariangela, Romano, Corrado, Fichera, Marco
Published in Clinical chemistry (Baltimore, Md.) (01.07.2005)
Published in Clinical chemistry (Baltimore, Md.) (01.07.2005)
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How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation
BORGIONE, EUGENIA, GIUDICE, MARIANGELA LO, GALESI, ORNELLA, CASTIGLIA, LUCIA, FAILLA, PINELLA, ROMANO, CORRADO, RAGUSA, ANGELA, FICHERA, MARCO
Published in Journal of medical genetics (01.01.2001)
Published in Journal of medical genetics (01.01.2001)
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