PANZA, EMANUELE
PANZA, EMANUELE
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Ricercatori a tempo determinato
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
2023 Rossi C.; Ramadan S.; Evangelisti C.; Ferrari S.; Accadia M.; Toydemir R.M.; Panza E.
Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms
2023 Martinello C.; Panza E.; Orlacchio A.
Hereditary spastic paraplegia: Genetic heterogeneity and common pathways
2022 Panza, Emanuele; Meyyazhagan, Arun; Orlacchio, Antonio
The clear cell sarcoma functional genomic landscape
2021 Panza E.; Ozenberger B.B.; Straessler K.M.; Barrott J.J.; Li L.; Wang Y.; Xie M.; Boulet A.; Titen S.W.A.; Mason C.C.; Lazar A.J.; Ding L.; Capecchi M.R.; Jones K.B.
Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone
2020 Avnet S.; Lemma S.; Errani C.; Falzetti L.; Panza E.; Columbaro M.; Nanni C.; Baldini N.
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
2020 Toydemir, Reha M.; Panza, Emanuele; Longhurst, Maria C.; South, Sarah T.; Rope, Alan F.
Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder
2020 Marco-Marín, Clara; Escamilla-Honrubia, Juan M; Llácer, José L; Seri, Marco; Panza, Emanuele; Rubio, Vicente
Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism
2019 Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9
2019 Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
2018 Dugan, Sarah L.; Panza, Emanuele; Openshaw, Amanda; Botto, Lorenzo D.; Camacho, Jose A.; Toydemir, Reha M.
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
2016 Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco
New perspectives in the diagnosis and management of enteric neuropathies
2013 Charles H. Knowles;Greger Lindberg;Emanuele Panza;Roberto De Giorgio
Genetics of human enteric neuropathies.
2012 Panza E; Knowles CH; Graziano C; Thapar N; Burns AJ; Seri M; Stanghellini V; De Giorgio R.
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells
2011 Pecci A.; Bozzi V.; Panza E.; Barozzi S.; Gruppi C.; Seri M.; Balduini C.L.
Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.
2011 Pecci A; Bozzi V; Panza E; Barozzi S; Gruppi C; Seri M; Balduini CL.
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.
2010 Brussino A.; Vaula G.; Cagnoli C.; Panza E.; Seri M.; Di Gregorio E.; Scappaticci S.; Camanini S.; Daniele D.; Bradac G.B.; Pinessi L.; Cavalieri S.; Grosso E.; Migone N.; Brusco A.
A heritable cause of cleft lip and palate - Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
2010 Ferrero G.B.; Baldassarre G.; Panza E.; Valenzise M.; Pippucci T.; Mussa A.; Pepe E.; Seri M.; Silengo M.C.
Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
2010 Savoia A.; De Rocco D.; Panza E.; Bozzi V.; Scandellari R.; Loffredo G.; Mumford A.; Heller P.G.; Noris P.; De Groot M.R.; Giani M.; Freddi P.; Scognamiglio F.; Riondino S.; Pujol-Moix N.; Fabris F.; Seri M.; Balduini C.L.; Pecci A.
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
2010 Pecci A.; Panza E.; De Rocco D.; Pujol-Moix N.; Girotto G.; Podda L.; Paparo C.; Bozzi V.; Pastore A.; Balduini CL.; Seri M.; Savoia A.
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.
2009 Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome | Rossi C.; Ramadan S.; Evangelisti C.; Ferrari S.; Accadia M.; Toydemir R.M.; Panza E. | 2023-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | Front Gen 2023.pdf; front.zip |
| Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms | Martinello C.; Panza E.; Orlacchio A. | 2023-01-01 | EXPERT REVIEW OF PROTEOMICS | - | 1.01 Articolo in rivista | - |
| Hereditary spastic paraplegia: Genetic heterogeneity and common pathways | Panza, Emanuele; Meyyazhagan, Arun; Orlacchio, Antonio | 2022-01-01 | EXPERIMENTAL NEUROLOGY | - | 1.01 Articolo in rivista | - |
| The clear cell sarcoma functional genomic landscape | Panza E.; Ozenberger B.B.; Straessler K.M.; Barrott J.J.; Li L.; Wang Y.; Xie M.; Boulet A.; Tite...n S.W.A.; Mason C.C.; Lazar A.J.; Ding L.; Capecchi M.R.; Jones K.B. | 2021-01-01 | THE JOURNAL OF CLINICAL INVESTIGATION | - | 1.01 Articolo in rivista | JCI+2021 (2) (1)-2-43.pdf |
| Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone | Avnet S.; Lemma S.; Errani C.; Falzetti L.; Panza E.; Columbaro M.; Nanni C.; Baldini N. | 2020-01-01 | BONE | - | 1.01 Articolo in rivista | - |
| Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism | Toydemir, Reha M.; Panza, Emanuele; Longhurst, Maria C.; South, Sarah T.; Rope, Alan F. | 2020-01-01 | MOLECULAR SYNDROMOLOGY | - | 1.01 Articolo in rivista | - |
| Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder | Marco-Marín, Clara; Escamilla-Honrubia, Juan M; Llácer, José L; Seri, Marco; Panza, Emanuele; Rub...io, Vicente | 2020-01-01 | JOURNAL OF INHERITED METABOLIC DISEASE | - | 1.01 Articolo in rivista | 2020 J Inherit Metab Dis 43-0657 vers aut (1).pdf |
| Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism | Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri | 2019-01-01 | FRONTIERS IN NEUROLOGY | - | 1.01 Articolo in rivista | FNEUR 2019.pdf |
| P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 | Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi...-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza | 2019-01-01 | ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | - | 1.01 Articolo in rivista | AnnClinTranNeurol_2019.pdf; acn350821-sup-0001-supinfo.pdf |
| Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions | Dugan, Sarah L.; Panza, Emanuele; Openshaw, Amanda; Botto, Lorenzo D.; Camacho, Jose A.; Toydemir..., Reha M. | 2018-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism | Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Gi...useppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco | 2016-01-01 | BRAIN | - | 1.04 Replica / breve intervento (e simili) | - |
| New perspectives in the diagnosis and management of enteric neuropathies | Charles H. Knowles;Greger Lindberg;Emanuele Panza;Roberto De Giorgio | 2013-01-01 | NATURE REVIEWS. GASTROENTEROLOGY & HEPATOLOGY | - | 1.01 Articolo in rivista | - |
| Genetics of human enteric neuropathies. | Panza E; Knowles CH; Graziano C; Thapar N; Burns AJ; Seri M; Stanghellini V; De Giorgio R. | 2012-01-01 | PROGRESS IN NEUROBIOLOGY | - | 1.01 Articolo in rivista | - |
| Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells | Pecci A.; Bozzi V.; Panza E.; Barozzi S.; Gruppi C.; Seri M.; Balduini C.L. | 2011-01-01 | THROMBOSIS AND HAEMOSTASIS | - | 1.01 Articolo in rivista | - |
| Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. | Pecci A; Bozzi V; Panza E; Barozzi S; Gruppi C; Seri M; Balduini CL. | 2011-01-01 | THROMBOSIS AND HAEMOSTASIS | - | 1.01 Articolo in rivista | - |
| A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. | Brussino A.; Vaula G.; Cagnoli C.; Panza E.; Seri M.; Di Gregorio E.; Scappaticci S.; Camanini S....; Daniele D.; Bradac G.B.; Pinessi L.; Cavalieri S.; Grosso E.; Migone N.; Brusco A. | 2010-01-01 | EUROPEAN JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| A heritable cause of cleft lip and palate - Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. | Ferrero G.B.; Baldassarre G.; Panza E.; Valenzise M.; Pippucci T.; Mussa A.; Pepe E.; Seri M.; Si...lengo M.C. | 2010-01-01 | EUROPEAN JOURNAL OF PEDIATRICS | - | 1.01 Articolo in rivista | - |
| Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. | Savoia A.; De Rocco D.; Panza E.; Bozzi V.; Scandellari R.; Loffredo G.; Mumford A.; Heller P.G.;... Noris P.; De Groot M.R.; Giani M.; Freddi P.; Scognamiglio F.; Riondino S.; Pujol-Moix N.; Fabris F.; Seri M.; Balduini C.L.; Pecci A. | 2010-01-01 | THROMBOSIS AND HAEMOSTASIS | - | 1.01 Articolo in rivista | - |
| MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. | Pecci A.; Panza E.; De Rocco D.; Pujol-Moix N.; Girotto G.; Podda L.; Paparo C.; Bozzi V.; Pastor...e A.; Balduini CL.; Seri M.; Savoia A. | 2010-01-01 | EUROPEAN JOURNAL OF HAEMATOLOGY | - | 1.01 Articolo in rivista | - |
| Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. | Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M. | 2009-01-01 | BLOOD | - | 1.01 Articolo in rivista | - |