Foto del docente

Emanuele Panza

Ricercatore a tempo determinato tipo b) (senior)

Dipartimento di Scienze Mediche e Chirurgiche

Settore scientifico disciplinare: MED/03 GENETICA MEDICA

Pubblicazioni

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., The clear cell sarcoma functional genomic landscape, «THE JOURNAL OF CLINICAL INVESTIGATION», 2021, 131, pp. 1 - 42 [articolo]

Avnet S.; Lemma S.; Errani C.; Falzetti L.; Panza E.; Columbaro M.; Nanni C.; Baldini N., Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone, «BONE», 2020, 134, pp. 115302 - N/A [articolo]

Toydemir, Reha M.; Panza, Emanuele; Longhurst, Maria C.; South, Sarah T.; Rope, Alan F., Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism, «MOLECULAR SYNDROMOLOGY», 2020, 11, pp. 125 - 129 [articolo]

Marco-Marín, Clara; Escamilla-Honrubia, Juan M; Llácer, José L; Seri, Marco; Panza, Emanuele; Rubio, Vicente, Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder, «JOURNAL OF INHERITED METABOLIC DISEASE», 2020, 43, pp. 657 - 670 [articolo]

Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri, 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, «FRONTIERS IN NEUROLOGY», 2019, 10, pp. 1 - 8 [articolo]Open Access

Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza, P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9, «ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY», 2019, 6, pp. 1533 - 1540 [articolo]Open Access

Dugan, Sarah L.; Panza, Emanuele; Openshaw, Amanda; Botto, Lorenzo D.; Camacho, Jose A.; Toydemir, Reha M., Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2018, 176, pp. 2901 - 2906 [articolo]

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, ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism, «BRAIN», 2016, 139, pp. 1 - 8 [replica/breve intervento]

Charles H. Knowles;Greger Lindberg;Emanuele Panza;Roberto De Giorgio, New perspectives in the diagnosis and management of enteric neuropathies, «NATURE REVIEWS. GASTROENTEROLOGY & HEPATOLOGY», 2013, 10, pp. 206 - 218 [articolo]

Panza E; Knowles CH; Graziano C; Thapar N; Burns AJ; Seri M; Stanghellini V; De Giorgio R., Genetics of human enteric neuropathies., «PROGRESS IN NEUROBIOLOGY», 2012, 96, pp. 176 - 189 [articolo]

Pecci A; Bozzi V; Panza E; Barozzi S; Gruppi C; Seri M; Balduini CL., Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells., «THROMBOSIS AND HAEMOSTASIS», 2011, 106, pp. 693 - 704 [articolo]

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 family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations., «EUROPEAN JOURNAL OF NEUROLOGY», 2010, 17, pp. 541 - 549 [articolo]

Ferrero G.B.; Baldassarre G.; Panza E.; Valenzise M.; Pippucci T.; Mussa A.; Pepe E.; Seri M.; Silengo M.C., 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., «EUROPEAN JOURNAL OF PEDIATRICS», 2010, 169, pp. 223 - 228 [articolo]

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., Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder., «THROMBOSIS AND HAEMOSTASIS», 2010, 103, pp. 826 - 832 [articolo]

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., MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype., «EUROPEAN JOURNAL OF HAEMATOLOGY», 2010, 84, pp. 291 - 297 [articolo]