Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability-Reference-Cited by-同舟云学术

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Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability

Published:2008-01-16 Issue:5 Volume:23 Page:751-755
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Fasano Alfonso¹,Colosimo Cesare²,Miyajima Hiroaki³,Tonali Pietro Attilio¹⁴,Re Thomas J.²,Bentivoglio Anna Rita¹

Affiliation:

1. Istituto di Neurologia, Università Cattolica del Sacro Cuore, Roma, Italy

2. Istituto di Radiologia, Università Cattolica del Sacro Cuore, Roma, Italy

3. First Department of Medicine, Hamamatsu University School of Medicine, Handayama, Hamamatsu, Japan

4. Fondazione Don Carlo Gnocchi, Milano, Italy

Funder

Università Cattolica del Sacro Cuore

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.21938

Reference17 articles.

1. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

2. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

3. Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a japanese family

4. Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus;Logan JI;Q J Med,1994

5. Hereditary haemochromatosis is unlikely to cause movement disorders

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1. New view of aceruloplasminemia: Systematic review and meta-analysis tracking dots from onset to disease development and iron-related features;Rare;2023

2. The divergent effects of astrocyte ceruloplasmin on learning and memory function in young and old mice;Cell Death & Disease;2022-11-28

3. Copper deficiency, a rare but correctable cause of pancytopenia: a review of literature;Expert Review of Hematology;2022-11-02

4. Aceruloplasminemia Presents as Type 2 Diabetes Associated with Unexplained Microcytic Anemia: A Case Report;The Journal of Korean Diabetes;2022-06-30

5. Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2022-01-24

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