Publications by authors named "Elise Brimble"

17Publications

Metabolic Disorders Presenting with Seizures in the Neonatal Period.

Semin Neurol 2020 04 17;40(2):219-235. Epub 2020 Mar 17.

Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California.

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http://dx.doi.org/10.1055/s-0040-1705119DOI Listing
April 2020

Case studies in neuroscience: a novel amino acid duplication in the NH-terminus of the brain sodium channel Na1.1 underlying Dravet syndrome.

J Neurophysiol 2019 11 18;122(5):1975-1980. Epub 2019 Sep 18.

Department of Biomedical Physiology, Simon Fraser University, Burnaby, British Columbia, Canada.

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http://dx.doi.org/10.1152/jn.00491.2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879963PMC
November 2019

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected -Related Disorder.

Mol Syndromol 2019 Jan 28;9(6):295-299. Epub 2018 Aug 28.

Department of Neurology and Neurological Sciences, Stanford, CA.

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http://dx.doi.org/10.1159/000492706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381894PMC
January 2019

Use of electronic medical record templates improves quality of care for patients with infantile spasms.

Health Inf Manag 2018 Aug 19:1833358318794501. Epub 2018 Aug 19.

Stanford University School of Medicine, USA.

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http://dx.doi.org/10.1177/1833358318794501DOI Listing
August 2018

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

J Pediatr 2018 05 11;196:291-297.e2. Epub 2018 Jan 11.

Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.12.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924635PMC
May 2018

Endoplasmic reticulum stress inhibition limits the progression of chronic kidney disease in the Dahl salt-sensitive rat.

Am J Physiol Renal Physiol 2017 01 9;312(1):F230-F244. Epub 2016 Nov 9.

Department of Medicine, Division of Nephrology, McMaster University and St. Joseph's Healthcare Hamilton, Hamilton, Ontario, Canada; and

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http://www.physiology.org/doi/10.1152/ajprenal.00119.2016
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http://dx.doi.org/10.1152/ajprenal.00119.2016DOI Listing
January 2017

4-Phenylbutyrate inhibits tunicamycin-induced acute kidney injury via CHOP/GADD153 repression.

PLoS One 2014 8;9(1):e84663. Epub 2014 Jan 8.

Department of Medicine, Division of Nephrology, McMaster University and St. Joseph's Healthcare Hamilton, Hamilton, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0084663PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885586PMC
September 2014

TDAG51 mediates epithelial-to-mesenchymal transition in human proximal tubular epithelium.

Am J Physiol Renal Physiol 2012 Aug 16;303(3):F467-81. Epub 2012 May 16.

Department of Medicine, Division of Nephrology, McMaster University and St. Joseph’s Healthcare Hamilton, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1152/ajprenal.00481.2011DOI Listing
August 2012

ER stress contributes to renal proximal tubule injury by increasing SREBP-2-mediated lipid accumulation and apoptotic cell death.

Am J Physiol Renal Physiol 2012 Jul 9;303(2):F266-78. Epub 2012 May 9.

Hamilton Centre for Kidney Research, St. Joseph's Healthcare Hamilton, 50 Charlton Ave. East, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1152/ajprenal.00482.2011DOI Listing
July 2012