PANZA, EMANUELE

PANZA, EMANUELE  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Docenti di ruolo di IIa fascia  

Mostra records
Risultati 1 - 20 di 35 (tempo di esecuzione: 0.05 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
Effects of APOE isoforms in diabetic nephropathy patients of South India Basavaraju, Preethi; Moorthi, Puthamohan Vinayaga; Meyyazhagan, Arun; Devaraj, Ilakkiyapavai; Bab...u, Kavipriya; Panza, Emanuele; Orlacchio, Antonio 2024-01-01 ACTA DIABETOLOGICA - 1.01 Articolo in rivista Effects of APOE-2024.pdf592_2024_2374_MOESM1_ESM.docx
Experimental Cell Models for Investigating Neurodegenerative Diseases Evangelisti, Cecilia; Ramadan, Sherin; Orlacchio, Antonio; Panza, Emanuele 2024-01-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - 1.01 Articolo in rivista IJMS_2024.pdf
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene Benvenuto M.; Cesarini S.; Severi G.; Ambrosini E.; Russo A.; Seri M.; Palumbo P.; Palumbo O.; Ca...stori M.; Panza E.; Carella M. 2024-01-01 GENES - 1.01 Articolo in rivista 2024_Genes.pdf
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.pdffront.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.pdfacn350821-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 -