Frataxin levels in peripheral tissue in Friedreich ataxia-Reference-Cited by-同舟云学术

Frataxin levels in peripheral tissue in Friedreich ataxia

Published:2015-07 Issue:8 Volume:2 Page:831-842
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Lazaropoulos Michael¹,Dong Yina¹,Clark Elisia¹,Greeley Nathaniel R.¹,Seyer Lauren A.¹,Brigatti Karlla W.¹,Christie Carlton¹,Perlman Susan L.²,Wilmot George R.³,Gomez Christoper M.⁴,Mathews Katherine D.⁵,Yoon Grace⁶,Zesiewicz Theresa⁷,Hoyle Chad⁸,Subramony Sub H.⁹,Brocht Alicia F.¹⁰,Farmer Jennifer M.¹,Wilson Robert B.¹¹,Deutsch Eric C.¹,Lynch David R.¹

Affiliation:

1. Departments of Pediatrics and Neurology Children's Hospital of Philadelphia Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania 19104

2. Department of Neurology University of California Los Angeles Los Angeles California

3. Department of Neurology Emory University Atlanta Georgia

4. Department of Neurology University of Chicago Chicago Illinois

5. Department of Neurology University of Iowa Iowa City Iowa

6. Division of Clinical and Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto Ontario Canada

7. Department of Neurology University of South Florida Tampa Florida

8. Department of Neurology The Ohio State University Columbus Ohio

9. Department of Neurology University of Florida Gainesville Florida

10. Department of Neurology University of Rochester Rochester New York

11. Department of Pathology and Lab Medicine Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania 19104

Funder

Friedreich Ataxia Research Alliance

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.225

Reference30 articles.

1. Friedreich Ataxia

2. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

3. Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

4. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet‐repeat expansion;Bidichandani SI;Am J Hum Genet,1997

5. Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features

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