Peripheral nervous system manifestations of Chediak-Higashi disease-Reference-Cited by-同舟云学术

Peripheral nervous system manifestations of Chediak-Higashi disease

Published:2016-12-16 Issue:3 Volume:55 Page:359-365
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Lehky Tanya J.¹,Groden Catherine²,Lear Barbara¹,Toro Camilo²,Introne Wendy J.²

Affiliation:

1. EMG Section, National Institute of Neurological Disorders and Stroke; 10 Center Drive MSC 1404, Building 10 CRC Room 7SW-5680NIH Bethesda Maryland USA 20892

2. Office of the Clinical Director, Human Genome Research Institute, NIH; Bethesda Maryland USA

Funder

Division of Intramural Research, National Institutes of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.25259/fullpdf

Reference22 articles.

1. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome;Introne;Mol Genet Metab,1999

2. The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease;Cullinane;Traffic,2013

3. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome;Karim;Am J Med Genet,2002

4. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype;Westbroek;J Invest Dermatol,2007

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