GIORGIO, ELISA

GIORGIO, ELISA  

SCIENZE MEDICHE  

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A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 2020 Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C; Cantarini, Maria E; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fagioli, Franca; Dianzani, Irma; Ramenghi, Ugo
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY 2012 Giorgio E; Robyr D; Di Gregorio E; Lacerenza D; Vaula G; Brusco A; Antonarakis SE; Brussino A
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 2017 Sirchia, Fabio; Di Gregorio, Eleonora; Restagno, Gabriella; Grosso, Enrico; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Pasini, Barbara; Mehta, Jodhbir S.; Brusco, Alfredo
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 2019 Mancini, Cecilia; Zonta, Andrea; Botta, Giovanni; Breda Klobus, Andrea; Valbonesi, Stefano; Pasini, Barbara; Giorgio, Elisa; Viora, Elsa; Brusco, Alfredo; Brussino, Alessandro
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 2022 Mingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjöld, Agneta; Newman, William; Woolf, Adrian S; Eckstein, Markus; Hilger, Alina C; Dworschak, Gabriel C; Rösch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M; Hernandez, Jose L; Erben, Philipp; Maj, Carlo; Olmos, Jose M; Riancho, Jose A; Valero, Carmen; Hostettler, Isabel C; Houlden, Henry; Werring, David J; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C; Arkani, Samara; Åkesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schäfer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M; van Rooij, Iris A L M; Feitz, Wouter F J; Marcelis, Carlo L M; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P; Chan, Melanie M Y; Ludwig, Kerstin U; Nöthen, Markus M; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD) 2021 Giorgio, Elisa; Pesce, Emanuela; Pozzi, Elisa; Sondo, Elvira; Ferrero, Marta; Morerio, Cristina; Borrelli, Giusy; Della Sala, Edoardo; Lorenzati, Martina; Cortelli, Pietro; Buffo, Annalisa; Pedemonte, Nicoletta; Brusco, Alfredo
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 2015 Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A.; Antonarakis, Stylianos E.; Brussino, Alessandro; Brusco, Alfredo
A large genomic deletion upstream of the lamin B1 gene (LMNB1) likely causes adult-onset autosomal dominant leukodystrophy due to alteration of the regulatory landscape of LMNB1 2013 E. Giorgio
A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1 2013 E. Giorgio; D. Robyr; E. Di Gregorio; D. Lacerenza; G. Vaula; D. Imperiale; C. Atzori; A. Brusco; S. Antonarakis; A. Brussino
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 2016 Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 2019 Giorgio, Elisa; Sirchia, Fabio; Bosco, Martino; Sobreira, Nara Lygia M; Grosso, Enrico; Brussino, Alessandro; Brusco, Alfredo
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy 2020 Antona, Vincenzo; Scalia, Federica; Giorgio, Elisa; Radio, Francesca C; Brusco, Alfredo; Oliveri, Massimiliano; Corsello, Giovanni; Lo Celso, Fabrizio; Vadalà, Maria; Conway de Macario, Everly; Macario, Alberto J L; Cappello, Francesco; Giuffrè, Mario
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 2015 Di Donato, Ilaria; Stabile, Carmen; Bianchi, Silvia; Taglia, Ilaria; Mignarri, Andrea; Salvatore, Simona; Giorgio, Elisa; Brusco, Alfredo; Simone, Isabella; Dotti, Maria Teresa; Federico, Antonio
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM 2013 Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 2013 Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 2013 Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 2017 Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; LO BUONO, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; DI GREGORIO, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 2014 V. BRUNETTI; M. FERILLI; A. PERNA; V. NOCITI; M. MIRABELLA; E. RICCI; E. GIORGIO; P. ROSSINI; G. SILVESTRI
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 2017 Giorgio, Elisa; Rubino, Elisa; Bruselles, Alessandro; Pizzi, Simone; Rainero, Innocenzo; Duca, Sergio; Sirchia, Fabio; Pasini, Barbara; Tartaglia, Marco; Brusco, Alfredo
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. 2015 Mancini C;Nassani S;Guo Y;Chen Y;Giorgio E;Brussino A;Di Gregorio E;Cavalieri S;Lo Buono N;Funaro A;Pizio NR;Nmezi B;Kyttala A;Santorelli FM;Padiath QS;Hakonarson H;Zhang H;Brusco A