CENACCHI, GIOVANNA
CENACCHI, GIOVANNA
DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
[Discovering uncommon nephropathies: a case of acute kidney damage from malaria]
2022 Chiappo, Francesca; Zambianchi, Loretta; Spazzoli, Alessandra; Lifrieri, Maria Francesca; Cristino, Stefania; De Fabritiis, Marco; Americo, Claudio; Angelini, Maria Laura; Fabbrizio, Benedetta; Cenacchi, Giovanna; Mosconi, Giovanni
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
2011 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.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
2014 Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cenacchi 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
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates
2014 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.
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy
2017 Grazia, Iannello; Claudio, Graziano; Giovanna, Cenacchi; Maria, Cordelli Duccio; Roberta, Zuntini; Valentina, Papa; Maria, Magistà Anna; Monica, Gagliardi; Radha, Procopio; Aldo, Quattrone; Grazia, Annesi
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
2008 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.
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
2004 MAZZEI R; CONFORTI FL; LANZA PL; SPROVIERI T; LUPO MR; GALLO O; PATITUCCI A; MAGARIELLO A; CARACCIOLO M; GABRIELE AL; FERA F; VALENTINO P; BONO F; CENACCHI G.; SANTORO G; MUGLIA M; QUATTRONE A.
A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis
2011 Michela Visani; Dario de Biase; Ilaria Bartolomei; Rosaria Plasmati; Luca Morandi; Giovanna Cenacchi; Fabrizio Salvi; Annalisa Pession
A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy
2020 Vitale G.; Pasquale F.; Leone O.; Cenacchi G.; Niro F.; Torrado M.; Maneiro E.; Graziosi M.; Ditaranto R.; Capelli I.; Monserrat L.; Rapezzi C.; Biagini E.
A rare case of intracranial extra-axial ependymoma
2019 Fabbri V.P.; Papa V.; Fioravanti A.; Messia M.; Tallini G.; Asioli S.; Cenacchi G.
A Rare Case of Systemic AL Amyloidosis with Muscle Involvement: A Misleading Diagnosis
2018 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.
A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report
2022 Montano, Vincenzo; Mancuso, Michelangelo; Simoncini, Costanza; Torri, Francesca; Chico, Lucia; Ali, Greta; Rocchi, Anna; Baldinotti, Fulvia; Caligo, Maria Adelaide; Lattanzi, Giovanna; Mattioli, Elisabetta; Cenacchi, Giovanna; Barison, Andrea; Siciliano, Gabriele; Ricci, Giulia
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function
2017 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
Activity of synthetic peptides against Chlamydia.
2017 Donati, M; Cenacchi, G; Biondi, R; Papa, V; Borel, N; Nepita, Ev; Magnino, S; Pasquinelli, G; Levi, A; Franco, Ol
Amyloid deposition as a cause of atrial remodelling in persistent valvular atrial fibrillation
2004 LEONE O; BORIANI G; CHIAPPINI B; PACINI D; CENACCHI G.; MARTIN SUAREZ S; RAPEZZI C; BACCHI REGGIANI ML; MARINELLI G.
Amyloid myopathy: an intriguing diagnosis.
2020 Tonin P, Pancheri E, Orlandi R, Gajofatto A, Rinaldi R, D'Angelo R, Papa V, Vattemi G, Cenacchi G.
An Abnormal Host/Microbiomes Signature of Plasma-Derived Extracellular Vesicles Is Associated to Polycythemia Vera
2021 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.
AN ITALIAN CASE OF CADASIL WITH MUTATION CGC-TCG IN CODON 1006, EXON 19 NOTCH3 GENE
2004 GUIDETTI D; CASALI B; MAZZEI RL; CENACCHI G; DE BERTI G; ZUCCOLI G; NICOLI D; CONFORTI FL; SPROVIERI T; PASQUINELLI G.; BRINI M
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant
2022 Boschetti, Elisa; Caporali, Leonardo; D'Angelo, Roberto; Malagelada, Carolina; Accarino, Anna; Dotti, Maria Teresa; Costa, Roberta; Cenacchi, Giovanna; Pironi, Loris; Rinaldi, Rita; Stanghellini, Vincenzo; Ratti, Stefano; Manzoli, Lucia; Carelli, Valerio; De Giorgio, Roberto
Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy
2013 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.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| [Discovering uncommon nephropathies: a case of acute kidney damage from malaria] | Chiappo, Francesca; Zambianchi, Loretta; Spazzoli, Alessandra; Lifrieri, Maria Francesca; Cristin...o, Stefania; De Fabritiis, Marco; Americo, Claudio; Angelini, Maria Laura; Fabbrizio, Benedetta; Cenacchi, Giovanna; Mosconi, Giovanni | 2022-01-01 | GIORNALE ITALIANO DI NEFROLOGIA | - | 1.01 Articolo in rivista | - |
| 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.pdf; Supplemental 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.pdf; Image_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 | - |