Literature DB >> 15654567

Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation.

Jens Kuhn, Hiroaki Miyajima, Yoshitomo Takahashi, Bernhard Kunath, Ursula Hartmann-Klosterkoetter, Déirdre Cooper-Mahkorn, Mark Schaefer, Heiko Bewermeyer.   

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Year:  2005        PMID： 15654567     DOI： 10.1007/s00415-005-0608-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  13 in total

1.  Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain.

Authors:  M Daimon; S Moriai; S Susa; K Yamatani; T Hosoya; T Kato
Journal:  Neuroradiology       Date:  1999-03       Impact factor: 2.804

2.  Aceruloplasminemia with a novel mutation associated with parkinsonism.

Authors:  S Kohno; H Miyajima; Y Takahashi; Y Inoue
Journal:  Neurogenetics       Date:  2000-03       Impact factor: 2.660

3.  Ceruloplasmin gene expression in the murine central nervous system.

Authors:  L W Klomp; Z S Farhangrazi; L L Dugan; J D Gitlin
Journal:  J Clin Invest       Date:  1996-07-01       Impact factor: 14.808

4.  Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.

Authors:  H Miyajima; S Kono; Y Takahashi; M Sugimoto; M Sakamoto; N Sakai
Journal:  Neurology       Date:  2001-12-26       Impact factor: 9.910

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

Authors:  M Daimon; S Susa; T Ohizumi; S Moriai; T Kawanami; A Hirata; H Yamaguchi; H Ohnuma; M Igarashi; T Kato
Journal:  Tohoku J Exp Med       Date:  2000-07       Impact factor: 1.848

6.  Measurement of ceruloplasmin from its oxidase activity in serum by use of o-dianisidine dihydrochloride.

Authors:  K H Schosinsky; H P Lehmann; M F Beeler
Journal:  Clin Chem       Date:  1974-12       Impact factor: 8.327

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

Authors:  Z L Harris; A P Durley; T K Man; J D Gitlin
Journal:  Proc Natl Acad Sci U S A       Date:  1999-09-14       Impact factor: 11.205

8.  Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

Authors:  Z L Harris; Y Takahashi; H Miyajima; M Serizawa; R T MacGillivray; J D Gitlin
Journal:  Proc Natl Acad Sci U S A       Date:  1995-03-28       Impact factor: 11.205

9.  Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.

Authors:  H Miyajima; Y Nishimura; K Mizoguchi; M Sakamoto; T Shimizu; N Honda
Journal:  Neurology       Date:  1987-05       Impact factor: 9.910

10.  Ceruloplasmin regulates iron levels in the CNS and prevents free radical injury.

Authors:  Bharatkumar N Patel; Robert J Dunn; Suh Young Jeong; Qinzhang Zhu; Jean-Pierre Julien; Samuel David
Journal:  J Neurosci       Date:  2002-08-01       Impact factor: 6.167
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  6 in total

1.  Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.

Authors:  Meghan Amson; Esther Lamoureux; Nir Hilzenrat; Marc Tischkowitz
Journal:  Can J Gastroenterol       Date:  2012-06       Impact factor: 3.522

2.  Multiple motor system dysfunction associated with a heterozygous ceruloplasmin gene mutation.

Authors:  Adolfo Jiménez-Huete; Juan Bernar; Hiroaki Miyajima; Yoshitomo Takahashi; Juan Alvarez-Linera; Oriol Franch; Marjo S van der Knaap
Journal:  J Neurol       Date:  2008-02-25       Impact factor: 4.849

3.  Role of external loops of human ceruloplasmin in copper loading by ATP7B and Ccc2p.

Authors:  Nunziata Maio; Fabio Polticelli; Giovanni De Francesco; Gianluca Rizzo; Maria Carmela Bonaccorsi di Patti; Giovanni Musci
Journal:  J Biol Chem       Date:  2010-04-29       Impact factor: 5.157

Review 4.  Ceruloplasmin-ferroportin system of iron traffic in vertebrates.

Authors:  Giovanni Musci; Fabio Polticelli; Maria Carmela Bonaccorsi di Patti
Journal:  World J Biol Chem       Date:  2014-05-26

5.  Reactive oxygen species are involved in ferroportin degradation induced by ceruloplasmin mutant Arg701Trp.

Authors:  Tiziana Persichini; Giovanni De Francesco; Caterina Capone; Antimo Cutone; Maria Carmela Bonaccorsi di Patti; Marco Colasanti; Giovanni Musci
Journal:  Neurochem Int       Date:  2012-01-20       Impact factor: 3.921

6.  Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study.

Authors:  Gudlaug Tórsdóttir; Grétar Gudmundsson; Jakob Kristinsson; Jón Snaedal; Torkell Jóhannesson
Journal:  Neuropsychiatr Dis Treat       Date:  2009-04-08       Impact factor: 2.570
  6 in total

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