Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation-Reference-Cited by-同舟云学术

Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

Published:2012-11-19 Issue:2 Volume:28 Page:224-227
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Schulte Eva C.¹²³,Claussen Malte C.¹,Jochim Angela¹,Haack Tobias²³,Hartig Monika²³,Hempel Maja²³,Prokisch Holger²³,Haun-Jünger Ursula⁴,Winkelmann Juliane¹²³,Hemmer Bernhard¹,Förschler Annette⁵,Ilg Rüdiger¹

Affiliation:

1. Neurologische Klinik und Poliklinik; Klinikum rechts der Isar; Technische Universität München; Munich Germany

2. Institut für Humangenetik; Helmholtz Zentrum München; Munich Germany

3. Institut für Humangenetik; Klinikum recht der Isar; Technische Universität München; Munich Germany

4. Sozialpädiatrisches Zentrum; Klinikum Bremen-Mitte; Bremen Germany

5. Abteilung für Neuroradiologie; Klinikum rechts der Isar; Technische Universität München; Munich Germany

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.25256/fullpdf

Reference13 articles.

1. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome;Hayflick;N Engl J Med,2003

2. Clinical and genetic delineation of neurodegeneration with brain iron accumulation;Gregory;J Med Genet,2009

3. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome;Zhou;Nat Genet,2001

4. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation;Hartig;Ann Neurol,2006

5. Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations;Schneider;Mov Disord,2012

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