CENACCHI, GIOVANNA

CENACCHI, GIOVANNA  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

Docenti di ruolo di Ia fascia  

Mostra records
Risultati 1 - 20 di 140 (tempo di esecuzione: 0.039 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. Carelli V.; Schimpf S.; Fuhrmann N.; Valentino M.L.; Zanna C.; Iommarini L.; Papke M.; Schaich S....; Tippmann S.; Baumann B.; Barboni P.; Longanesi L.; Rugolo M.; Ghelli A.; Alavi M.V.; Youle R.J.; Bucchi L.; Carroccia R.; Giannoccaro M.P.; Tonon C.; Lodi R.; Cenacchi G.; Montagna P.; Liguori R.; Wissinger B. 2011-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cena...cchi G;Neri I;Cordelli DM;Marchiani V;Bergamaschi R;Gasparre G;Neri G;Mazzanti L;Patrizi A;Franzoni E;Romeo G;Bordo D;Tartaglia M;Katsanis N;Seri M 2014-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates Rossi D; Vezzani B; Galli L; Paolini C; Toniolo L; Pierantozzi E; Spinozzi S; Barone V; Pegoraro ...E; Bello L; Cenacchi G; Vattemi G; Tomelleri G; Ricci G; Siciliano G; Protasi F; Reggiani C; Sorrentino V. 2014-01-01 HUMAN MUTATION - 1.01 Articolo in rivista -
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy Grazia, Iannello; Claudio, Graziano; Giovanna, Cenacchi; Maria, Cordelli Duccio; Roberta, Zuntini...; Valentina, Papa; Maria, Magistà Anna; Monica, Gagliardi; Radha, Procopio; Aldo, Quattrone; Grazia, Annesi 2017-01-01 JOURNAL OF THE NEUROLOGICAL SCIENCES - 1.01 Articolo in rivista -
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function Spinazzi M; Cazzola S; Bortolozzi M; Baracca A; Loro E; Casarin A; Solaini G; Sgarbi G; Casalena ...G; Cenacchi G; Malena A; Frezza C; Carrara F; Angelini C; Scorrano L; Salviati L; Vergani L. 2008-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL MAZZEI R; CONFORTI FL; LANZA PL; SPROVIERI T; LUPO MR; GALLO O; PATITUCCI A; MAGARIELLO A; CARACC...IOLO M; GABRIELE AL; FERA F; VALENTINO P; BONO F; CENACCHI G.; SANTORO G; MUGLIA M; QUATTRONE A. 2004-01-01 NEUROLOGY - 1.01 Articolo in rivista -
A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis Michela Visani; Dario de Biase; Ilaria Bartolomei; Rosaria Plasmati; Luca Morandi; Giovanna Cenac...chi; Fabrizio Salvi; Annalisa Pession 2011-01-01 AMYOTROPHIC LATERAL SCLEROSIS - 1.01 Articolo in rivista -
A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy Vitale G.; Pasquale F.; Leone O.; Cenacchi G.; Niro F.; Torrado M.; Maneiro E.; Graziosi M.; Dita...ranto R.; Capelli I.; Monserrat L.; Rapezzi C.; Biagini E. 2020-01-01 CANADIAN JOURNAL OF CARDIOLOGY - 1.01 Articolo in rivista -
A rare case of intracranial extra-axial ependymoma Fabbri V.P.; Papa V.; Fioravanti A.; Messia M.; Tallini G.; Asioli S.; Cenacchi G. 2019-01-01 ULTRASTRUCTURAL PATHOLOGY - 1.01 Articolo in rivista -
A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis Accardi F, Papa V, Capozzi AR, Capello GL, Verga L, Mancini C, Martella E, Costa R, Notarfranchi ...L, Dalla Palma B, Aversa, Pietrini V3, Cenacchi G, Giuliani N. 2018-01-01 CASE REPORTS IN HEMATOLOGY - 1.01 Articolo in rivista 9840405.pdf
A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report Montano, Vincenzo; Mancuso, Michelangelo; Simoncini, Costanza; Torri, Francesca; Chico, Lucia; Al...i, Greta; Rocchi, Anna; Baldinotti, Fulvia; Caligo, Maria Adelaide; Lattanzi, Giovanna; Mattioli, Elisabetta; Cenacchi, Giovanna; Barison, Andrea; Siciliano, Gabriele; Ricci, Giulia 2022-01-01 JOURNAL OF NEUROMUSCULAR DISEASES - 1.01 Articolo in rivista -
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function Morelli, Federica F.; Verbeek, Dineke S.; Bertacchini, Jessika; Vinet, Jonathan; Mediani, Laura; ...Marmiroli, Sandra; Cenacchi, Giovanna; Nasi, Milena; De Biasi, Sara; Brunsting, Jeanette F.; Lammerding, Jan; Pegoraro, Elena; Angelini, Corrado; Tupler, Rossella; Alberti, Simon; Carra, Serena 2017-01-01 CELL REPORTS - 1.01 Articolo in rivista 1-s2.0-S2211124717311105-main.pdfSupplemental Information.pdf
Activity of synthetic peptides against Chlamydia. Donati, M; Cenacchi, G; Biondi, R; Papa, V; Borel, N; Nepita, Ev; Magnino, S; Pasquinelli, G; Lev...i, A; Franco, Ol 2017-01-01 PEPTIDE SCIENCES - 1.01 Articolo in rivista -
Amyloid deposition as a cause of atrial remodelling in persistent valvular atrial fibrillation LEONE O; BORIANI G; CHIAPPINI B; PACINI D; CENACCHI G.; MARTIN SUAREZ S; RAPEZZI C; BACCHI REGGIA...NI ML; MARINELLI G. 2004-01-01 EUROPEAN HEART JOURNAL - 1.01 Articolo in rivista -
Amyloid myopathy: an intriguing diagnosis. Tonin P, Pancheri E, Orlandi R, Gajofatto A, Rinaldi R, D'Angelo R, Papa V, Vattemi G, Cenacchi G. 2020-01-01 CLINICAL NEUROLOGY AND NEUROSURGERY - 1.01 Articolo in rivista -
An Abnormal Host/Microbiomes Signature of Plasma-Derived Extracellular Vesicles Is Associated to Polycythemia Vera Barone M.; Barone M.; Ricci F.; Auteri G.; Corradi G.; Fabbri F.; Papa V.; Bandini E.; Cenacchi G....; Tazzari P.L.; Vianelli N.; Turroni S.; Cavo M.; Palandri F.; Candela M.; Catani L. 2021-01-01 FRONTIERS IN ONCOLOGY - 1.01 Articolo in rivista fonc-11-715217.pdfImage_4.zip
AN ITALIAN CASE OF CADASIL WITH MUTATION CGC-TCG IN CODON 1006, EXON 19 NOTCH3 GENE GUIDETTI D; CASALI B; MAZZEI RL; CENACCHI G; DE BERTI G; ZUCCOLI G; NICOLI D; CONFORTI FL; SPROVI...ERI T; PASQUINELLI G.; BRINI M 2004-01-01 NEUROLOGICAL SCIENCES - 1.01 Articolo in rivista -
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant Boschetti, Elisa; Caporali, Leonardo; D'Angelo, Roberto; Malagelada, Carolina; Accarino, Anna; Do...tti, Maria Teresa; Costa, Roberta; Cenacchi, Giovanna; Pironi, Loris; Rinaldi, Rita; Stanghellini, Vincenzo; Ratti, Stefano; Manzoli, Lucia; Carelli, Valerio; De Giorgio, Roberto 2022-01-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - 1.01 Articolo in rivista 35-Boschetti laser microdissection 2022.pdf
Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy Malena A; Pennuto M; Tezze C; Querin G; D'Ascenzo C; Silani V; Cenacchi G; Scaramozza A; Romito S...; Morandi L; Pegoraro E; Russell AP; Sorarù G; Vergani L. 2013-01-01 ACTA NEUROPATHOLOGICA - 1.01 Articolo in rivista -
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts Milev, Miroslav P.; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F. E.; Al-Deri, Noraldin...; Cordelli, Duccio Maria; Haack, Tobias B.; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovanna; Van Gassen, Koen L. I.; Zschocke, Johannes; Fauth, Christine; Mayr, Johannes A.; Sacher, Michael; Van Hasselt, Peter M. 2018-01-01 JOURNAL OF MEDICAL GENETICS - 1.01 Articolo in rivista -