| MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single … M Seri, A Pecci, F Di Bari, R Cusano, M Savino, E Panza, A Nigro, P Noris, ... Medicine 82 (3), 203-215, 2003 | 407 | 2003 |
| Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease A Pecci, E Panza, N Pujol‐Moix, C Klersy, F Di Bari, V Bozzi, P Gresele, ... Human mutation 29 (3), 409-417, 2008 | 222 | 2008 |
| New perspectives in the diagnosis and management of enteric neuropathies CH Knowles, G Lindberg, E Panza, R De Giorgio Nature reviews Gastroenterology & hepatology 10 (4), 206, 2013 | 107 | 2013 |
| Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder A Savoia, D De Rocco, E Panza, V Bozzi, R Scandellari, G Loffredo, ... Thrombosis and haemostasis 103 (04), 826-832, 2010 | 107 | 2010 |
| ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism E Panza, JM Escamilla-Honrubia, C Marco-Marín, N Gougeard, ... Brain 139 (1), e3-e3, 2016 | 57 | 2016 |
| A family with autosomal dominant leukodystrophy linked to 5q23. 2–q23. 3 without lamin B1 mutations A Brussino, G Vaula, C Cagnoli, E Panza, M Seri, E Di Gregorio, ... European journal of neurology 17 (4), 541-549, 2010 | 49 | 2010 |
| Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p LLEPF Schenaa, M Serib, MDGRC Binid, G Pappalardod, GPTP Perrie Hum Hered 63, 205-211, 2007 | 49 | 2007 |
| Genetics of human enteric neuropathies E Panza, CH Knowles, C Graziano, N Thapar, AJ Burns, M Seri, ... Progress in neurobiology 96 (2), 176-189, 2012 | 48 | 2012 |
| A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24 A Deglincerti, R De Giorgio, K Cefle, M Devoto, T Pippucci, G Castegnaro, ... European journal of human genetics 15 (8), 889-897, 2007 | 37 | 2007 |
| Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells A Pecci, V Bozzi, E Panza, S Barozzi, C Gruppi, M Seri, CL Balduini Thrombosis and haemostasis 106 (10), 693-704, 2011 | 35 | 2011 |
| MYH9 related disease: four novel mutations of the tail domain of myosin‐9 correlating with a mild clinical phenotype A Pecci, E Panza, D De Rocco, N Pujol‐Moix, G Girotto, L Podda, ... European Journal of Haematology 84 (4), 291-297, 2010 | 34 | 2010 |
| Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder. RV Marco-Marín C, Escamilla-Honrubia JM, Llácer JL, Seri M, Panza E J Inherit Metab Dis., 2020 | 27 | 2020 |
| The clear cell sarcoma functional genomic landscape E Panza, BB Ozenberger, KM Straessler, JJ Barrott, L Li, Y Wang, M Xie, ... The Journal of Clinical Investigation 131 (15), 2021 | 26 | 2021 |
| 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 … E Panza, D Martinelli, P Magini, C Dionisi Vici, M Seri Frontiers in Neurology 10, 131, 2019 | 26 | 2019 |
| Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation C Graziano, S Carone, E Panza, F Marino, P Magini, G Romeo, A Pession, ... Blood, The Journal of the American Society of Hematology 114 (8), 1655-1657, 2009 | 22 | 2009 |
| Hereditary spastic paraplegia: Genetic heterogeneity and common pathways E Panza, A Meyyazhagan, A Orlacchio Experimental Neurology 357, 114203, 2022 | 20 | 2022 |
| 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 GB Ferrero, G Baldassarre, E Panza, M Valenzise, T Pippucci, A Mussa, ... European journal of pediatrics 169, 223-228, 2010 | 19 | 2010 |
| Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity T Pippucci, E Panza, E Pompilii, V Donadio, A Borreca, C Babalini, ... European journal of neurology 16 (1), 121-126, 2009 | 17 | 2009 |
| P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9 P Magini, C Marco‐Marin, JM Escamilla‐Honrubia, D Martinelli, ... Annals of Clinical and Translational Neurology 6 (8), 1533-1540, 2019 | 15 | 2019 |
| The breakpoint identified in a balanced de novo translocation t (7; 9)(p14. 1; q31. 3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient … E Panza, G Gimelli, M Passalacqua, A Cohen, S Gimelli, S Giglio, ... International journal of molecular medicine 19 (3), 429-435, 2007 | 15 | 2007 |
