Foto del docente

Emanuele Panza

Senior assistant professor (fixed-term)

Department of Medical and Surgical Sciences

Academic discipline: MED/03 Medical Genetics

Publications

Rossi C.; Ramadan S.; Evangelisti C.; Ferrari S.; Accadia M.; Toydemir R.M.; Panza E., Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome, «FRONTIERS IN GENETICS», 2023, 14, Article number: 1082100 , pp. 1 - 7 [Scientific article]Open Access

Martinello C.; Panza E.; Orlacchio A., Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms, «EXPERT REVIEW OF PROTEOMICS», 2023, 20, pp. 171 - 188 [Scientific article]

Panza, Emanuele; Meyyazhagan, Arun; Orlacchio, Antonio, Hereditary spastic paraplegia: Genetic heterogeneity and common pathways, «EXPERIMENTAL NEUROLOGY», 2022, 357, Article number: 114203 , pp. 1 - 18 [Scientific article]

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, Article number: e146301 , pp. 1 - 14 [Scientific article]

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, Article number: 115302 , pp. 115302 - N/A [Scientific article]

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 [Scientific article]

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 [Scientific article]

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, Article number: 131 , pp. 1 - 8 [Scientific article]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 [Scientific article]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 [Scientific article]

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 [Comment or similar]

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 [Scientific article]

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 [Scientific article]

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, «THROMBOSIS AND HAEMOSTASIS», 2011, 106, pp. 693 - 704 [Scientific article]

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 [Scientific article]