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Journal Abstract Search
245 related items for PubMed ID: 17307325
21. [Aceruloplasminemia, a rare condition not to be overlooked]. Lobbes H, Reynaud Q, Mainbourg S, Lega JC, Durieu I, Durupt S. Rev Med Interne; 2020 Nov; 41(11):769-775. PubMed ID: 32682623 [Abstract] [Full Text] [Related]
22. The neurological presentation of ceruloplasmin gene mutations. McNeill A, Pandolfo M, Kuhn J, Shang H, Miyajima H. Eur Neurol; 2008 Nov; 60(4):200-5. PubMed ID: 18667828 [Abstract] [Full Text] [Related]
23. Redox active iron accumulation in aceruloplasminemia. Gonzalez-Cuyar LF, Perry G, Miyajima H, Atwood CS, Riveros-Angel M, Lyons PF, Siedlak SL, Smith MA, Castellani RJ. Neuropathology; 2008 Oct; 28(5):466-71. PubMed ID: 18282164 [Abstract] [Full Text] [Related]
24. Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. Vila Cuenca M, Marchi G, Barqué A, Esteban-Jurado C, Marchetto A, Giorgetti A, Chelban V, Houlden H, Wood NW, Piubelli C, Dorigatti Borges M, Martins de Albuquerque D, Yotsumoto Fertrin K, Jové-Buxeda E, Sanchez-Delgado J, Baena-Díez N, Burnyte B, Utkus A, Busti F, Kaubrys G, Suku E, Kowalczyk K, Karaszewski B, Porter JB, Pollard S, Eleftheriou P, Bignell P, Girelli D, Sanchez M. Int J Mol Sci; 2020 Mar 30; 21(7):. PubMed ID: 32235485 [Abstract] [Full Text] [Related]
29. Ceruloplasmin deficiency does not induce macrophagic iron overload: lessons from a new rat model of hereditary aceruloplasminemia. Kenawi M, Rouger E, Island ML, Leroyer P, Robin F, Rémy S, Tesson L, Anegon I, Nay K, Derbré F, Brissot P, Ropert M, Cavey T, Loréal O. FASEB J; 2019 Dec 30; 33(12):13492-13502. PubMed ID: 31560858 [Abstract] [Full Text] [Related]
30. Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia. Kono S, Suzuki H, Oda T, Shirakawa K, Takahashi Y, Kitagawa M, Miyajima H. J Hepatol; 2007 Dec 30; 47(6):844-50. PubMed ID: 17637479 [Abstract] [Full Text] [Related]
31. Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia. Zanardi A, Conti A, Cremonesi M, D'Adamo P, Gilberti E, Apostoli P, Cannistraci CV, Piperno A, David S, Alessio M. EMBO Mol Med; 2018 Jan 30; 10(1):91-106. PubMed ID: 29183916 [Abstract] [Full Text] [Related]
32. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Xu X, Pin S, Gathinji M, Fuchs R, Harris ZL. Ann N Y Acad Sci; 2004 Mar 30; 1012():299-305. PubMed ID: 15105274 [Abstract] [Full Text] [Related]
33. Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation. Kuhn J, Miyajima H, Takahashi Y, Kunath B, Hartmann-Klosterkoetter U, Cooper-Mahkorn D, Schaefer M, Bewermeyer H. J Neurol; 2005 Jan 30; 252(1):111-3. PubMed ID: 15654567 [No Abstract] [Full Text] [Related]
35. Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. Bosio S, De Gobbi M, Roetto A, Zecchina G, Leonardo E, Rizzetto M, Lucetti C, Petrozzi L, Bonuccelli U, Camaschella C. Blood; 2002 Sep 15; 100(6):2246-8. PubMed ID: 12200392 [Abstract] [Full Text] [Related]