Literature DB >> 18293024

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

Adolfo Jiménez-Huete, Juan Bernar, Hiroaki Miyajima, Yoshitomo Takahashi, Juan Alvarez-Linera, Oriol Franch, Marjo S van der Knaap.   

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Year:  2008        PMID： 18293024     DOI： 10.1007/s00415-008-0823-9

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


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  12 in total

1.  Functional relevance of ceruloplasmin mutations in Parkinson's disease.

Authors:  Helmine Hochstrasser; Jürgen Tomiuk; Uwe Walter; Stefanie Behnke; Jörg Spiegel; Rejko Krüger; Georg Becker; Olaf Riess; Daniela Berg
Journal:  FASEB J       Date:  2005-09-08       Impact factor: 5.191

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

Authors:  Jens Kuhn; Hiroaki Miyajima; Yoshitomo Takahashi; Bernhard Kunath; Ursula Hartmann-Klosterkoetter; Déirdre Cooper-Mahkorn; Mark Schaefer; Heiko Bewermeyer
Journal:  J Neurol       Date:  2005-01       Impact factor: 4.849

3.  Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

Authors:  A R Curtis; C Fey; C M Morris; L A Bindoff; P G Ince; P F Chinnery; A Coulthard; M J Jackson; A P Jackson; D P McHale; D Hay; W A Barker; A F Markham; D Bates; A Curtis; J Burn
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

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.  MR imaging of cerebral cortical involvement in aceruloplasminemia.

Authors:  Marina Grisoli; Alberto Piperno; Luisa Chiapparini; Raffaella Mariani; Mario Savoiardo
Journal:  AJNR Am J Neuroradiol       Date:  2005-03       Impact factor: 3.825

7.  Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate.

Authors:  J Kuhn; H Bewermeyer; H Miyajima; Y Takahashi; K F Kuhn; T U Hoogenraad
Journal:  Brain Dev       Date:  2007-02-20       Impact factor: 1.961

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

Authors:  Paul Hahn; Ying Qian; Tzvete Dentchev; Lin Chen; John Beard; Zena Leah Harris; Joshua L Dunaief
Journal:  Proc Natl Acad Sci U S A       Date:  2004-09-13       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.  [An autopsy case of multiple system atrophy with a heteroallelic ceruloplasmin gene mutation].

Authors:  Harumi Yomono; Hiroshi Kurisaki; Shigeo Murayama; Akira Hebisawa; Hiroaki Miyajima; Yoshiaki Takahashi
Journal:  Rinsho Shinkeigaku       Date:  2003-07
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