Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation-Reference-Cited by-同舟云学术

Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation

Published:2020-09 Issue:S3 Volume:7 Page:
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Aydemir Sabiha T.¹,Bulut Onur¹,Ceylaner Serdar²,Akbostancı Muhittin C.¹

Affiliation:

1. Department of Neurology Ankara University School of Medicine Ankara Turkey

2. Intergen Genetics and Rare Diseases Diagnosis Research & Application Center, Ibni Sina Hastanesi, Noroloji Bolumu, K Blok, 3. Kat, 06100 Altindag Ankara Turkey

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13062

Reference9 articles.

1. Aceruloplasminemia

2. The Neurological Presentation of Ceruloplasmin Gene Mutations

3. Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia

4. Hematologic follow‐up as clue to polycythemia vera due to JAK2 mutation presenting as late onset chorea;Barrow E;Mov Disord Clin Pract,2018

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1. Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease;npj Parkinson's Disease;2023-04-06

2. Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant;Pediatric Hematology and Oncology;2022-10-29

3. A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report;Frontiers in Neuroscience;2022-05-02

4. A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations;Parkinsonism & Related Disorders;2022-05

5. One Side of the Story; Clues to Etiology in Patients with Asymmetric Chorea;Tremor and Other Hyperkinetic Movements;2022-01-31