Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12-Reference-Cited by-同舟云学术

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

Published:2013-08-12 Issue:10 Volume:34 Page:1357-1360
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Landouré Guida,Zhu Peng-Peng¹,Lourenço Charles M.²,Johnson Janel O.³,Toro Camilo⁴,Bricceno Katherine V.¹,Rinaldi Carlo¹,Meilleur Katherine G.⁵,Sangaré Modibo¹,Diallo Oumarou¹,Pierson Tyler M.,Ishiura Hiroyuki⁶,Tsuji Shoji⁶,Hein Nichole⁷,Fink John K.,Stoll Marion⁸,Nicholson Garth⁸,Gonzalez Michael A.⁹,Speziani Fiorella⁹,Dürr Alexandra,Stevanin Giovanni,Biesecker Leslie G.¹⁰,Accardi John⁴,Landis Dennis M. D.⁴,Gahl William A.⁴,Traynor Bryan J.³,Marques Wilson²,Züchner Stephan⁹,Blackstone Craig¹,Fischbeck Kenneth H.¹,Burnett Barrington G.¹,

Affiliation:

1. Neurogenetics Branch, National Institute of Neurological Disorders and Stroke; National Institutes of Health; Bethesda; Maryland

2. Department of Neuroscience and Behaviour Sciences, School of Medicine of Ribeirão Preto; University of Sao Polo; Sao Polo; Brazil

3. Laboratory of Neurogenetics, National Institute on Aging; National Institutes of Health; Bethesda; Maryland

4. NIH Undiagnosed Diseases Program, NIH Common Fund; Office of the Director, National Institutes of Health; Bethesda; Maryland

5. Tissue Injury Branch, National Institute of Nursing Research; National Institutes of Health; Bethesda; Maryland

6. Department of Neurology, Graduate School of Medicine; University of Tokyo; Tokyo; Japan

7. Department of Neurology; University of Michigan Medical School; Ann Arbor; Michigan

8. Northcott Neuroscience Laboratory, ANZAC Research Institute; University of Sydney; Sydney; Australia

9. Department of Human Genetics and John P. Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami; Florida

10. Genetic Disease Research Branch and NIH Intramural Sequencing Center; National Institutes of Health; Bethesda; Maryland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22378/fullpdf

Reference17 articles.

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2. Cellular pathways of hereditary spastic paraplegia;Blackstone;Annu Rev Neurosci,2012

3. Hereditary spastic paraplegias: membrane traffic and the motor pathway;Blackstone;Nat Rev Neurosci,2011

4. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis;Deschauer;J Neurol,2012

5. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study;Erichsen;Brain,2009

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