KIF5Amutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction-Reference-Cited by-同舟云学术

KIF5Amutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

Published:2016-08-24 Issue:4 Volume:80 Page:633-637
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Duis Jessica¹,Dean Shannon²,Applegate Carolyn¹,Harper Amy³,Xiao Rui⁴,He Weimin⁴,Dollar James D.⁵,Sun Lisa R.²,Waberski Marta Biderman⁶,Crawford Thomas O.²,Hamosh Ada¹,Stafstrom Carl E.²

Affiliation:

1. McKusick-Nathans Institute of Genetic Medicine; Department of Pediatrics, Johns Hopkins University School of Medicine; Baltimore MD

2. Pediatric Neurology; Johns Hopkins University School of Medicine; Baltimore MD

3. Carolinas Pediatric Neurology Care; Charlotte NC

4. Department of Molecular and Human Genetics; Baylor Miraca Genetics Laboratories, Baylor College of Medicine; Houston TX

5. Carolinas Pathology Group; Charlotte NC

6. Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health; Bethesda MD

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24744/fullpdf

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2. Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia;Kawaguchi;Neuroscientist,2013

3. Extended phenotypic spectrum of KIF5A mutations: from spastic paraplegia to axonal neuropathy;Liu;Neurology,2014

4. Kinesin superfamily motor proteins and intracellular transport;Hirokawa;Nat Rev Mol Cell Biol,2009

5. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A;Xia;J Cell Biol,2003

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