Eric G Bend

Eric G Bend

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Eric G Bend

Eric G Bend

Publications by authors named "Eric G Bend"

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

Clin Dysmorphol 2019 Apr;28(2):71-73

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000260DOI Listing
April 2019

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Neurology 2016 Sep 24;87(11):1131-9. Epub 2016 Aug 24.

From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000003095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027803PMC
September 2016

Glycolytic Enzymes Localize to Synapses under Energy Stress to Support Synaptic Function.

Neuron 2016 04 7;90(2):278-91. Epub 2016 Apr 7.

Program in Cellular Neuroscience, Neurodegeneration, and Repair, Department of Cell Biology and Department of Neuroscience, Yale University School of Medicine, P.O. Box 9812, New Haven, CT 06536-0812, USA; Instituto de Neurobiología, Recinto de Ciencias Médicas, Universidad de Puerto Rico, 201 Boulevard del Valle, San Juan 00901, Puerto Rico. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840048PMC
April 2016

Axons degenerate in the absence of mitochondria in C. elegans.

Curr Biol 2014 Mar 13;24(7):760-5. Epub 2014 Mar 13.

Department of Biology and Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT 84112-0840, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cub.2014.02.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4018749PMC
March 2014

Syntaxin N-terminal peptide motif is an initiation factor for the assembly of the SNARE-Sec1/Munc18 membrane fusion complex.

Proc Natl Acad Sci U S A 2010 Dec 7;107(52):22399-406. Epub 2010 Dec 7.

Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.

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http://dx.doi.org/10.1073/pnas.1012997108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012463PMC
December 2010

Reactions with dye free radicals reveal weak redox properties of drugs.

Photochem Photobiol 2006 Nov-Dec;82(6):1566-71

Physics Department, Portland State University, PO Box 751, Portland, OR, USA.

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http://doi.wiley.com/10.1562/2006-06-22-RA-945
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http://dx.doi.org/10.1562/2006-06-22-RA-945DOI Listing
April 2007