PubMed (OMIM) for id: 1356

Year	Number of Results
1966	1
1967	1
1968	2
1969	1
1970	1
1972	1
1979	1
1980	2
1981	1
1982	2
1983	2
1984	3
1986	1
1987	3
1988	1
1990	1
1991	1
1992	1
1994	1
1995	4
1996	3
1997	1
1998	1
1999	1
2000	1
2001	2
2004	1
2005	1
2007	1
2018	1
2020	1
2024	0

1

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. Vila Cuenca M, et al. Int J Mol Sci. 2020 Mar 30;21(7):2374. doi: 10.3390/ijms21072374. Int J Mol Sci. 2020. PMID: 32235485 Free PMC article.

2

Classification and molecular pathogenesis of NBIA syndromes.

Di Meo I, Tiranti V. Di Meo I, et al. Eur J Paediatr Neurol. 2018 Mar;22(2):272-284. doi: 10.1016/j.ejpn.2018.01.008. Epub 2018 Jan 17. Eur J Paediatr Neurol. 2018. PMID: 29409688 Review.

3

Ceruloplasmin upregulation in retina of murine and human glaucomatous eyes.

Stasi K, Nagel D, Yang X, Ren L, Mittag T, Danias J. Stasi K, et al. Invest Ophthalmol Vis Sci. 2007 Feb;48(2):727-32. doi: 10.1167/iovs.06-0497. Invest Ophthalmol Vis Sci. 2007. PMID: 17251471

4

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. Kuhn J, et al. J Neurol. 2005 Jan;252(1):111-3. doi: 10.1007/s00415-005-0608-3. J Neurol. 2005. PMID: 15654567 No abstract available.

5

Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration.

Hahn P, Qian Y, Dentchev T, Chen L, Beard J, Harris ZL, Dunaief JL. Hahn P, et al. Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13850-5. doi: 10.1073/pnas.0405146101. Epub 2004 Sep 13. Proc Natl Acad Sci U S A. 2004. PMID: 15365174 Free PMC article.

6

Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.

Miyajima H, Kono S, Takahashi Y, Sugimoto M, Sakamoto M, Sakai N. Miyajima H, et al. Neurology. 2001 Dec 26;57(12):2205-10. doi: 10.1212/wnl.57.12.2205. Neurology. 2001. PMID: 11756598

7

Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.

Roy CN, Andrews NC. Roy CN, et al. Hum Mol Genet. 2001 Oct 1;10(20):2181-6. doi: 10.1093/hmg/10.20.2181. Hum Mol Genet. 2001. PMID: 11673399 Review.

8

A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM).

Daimon M, Susa S, Ohizumi T, Moriai S, Kawanami T, Hirata A, Yamaguchi H, Ohnuma H, Igarashi M, Kato T. Daimon M, et al. Tohoku J Exp Med. 2000 Jul;191(3):119-25. doi: 10.1620/tjem.191.119. Tohoku J Exp Med. 2000. PMID: 10997552 Free article.

9

Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux.

Harris ZL, Durley AP, Man TK, Gitlin JD. Harris ZL, et al. Proc Natl Acad Sci U S A. 1999 Sep 14;96(19):10812-7. doi: 10.1073/pnas.96.19.10812. Proc Natl Acad Sci U S A. 1999. PMID: 10485908 Free PMC article.

10

Role of ceruloplasmin in cellular iron uptake.

Mukhopadhyay CK, Attieh ZK, Fox PL. Mukhopadhyay CK, et al. Science. 1998 Jan 30;279(5351):714-7. doi: 10.1126/science.279.5351.714. Science. 1998. PMID: 9445478

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