Publications by authors named "Christopher J Yuskaitis"

24Publications

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Sep 26. Epub 2020 Sep 26.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
September 2020

Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice.

Hum Mol Genet 2019 09;28(17):2952-2964

Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1093/hmg/ddz123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736288PMC
September 2019

Brain MRI abnormalities in patients with infantile spasms and Down syndrome.

Epilepsy Behav 2019 03 4;92:57-60. Epub 2019 Jan 4.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183090
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http://dx.doi.org/10.1016/j.yebeh.2018.12.013DOI Listing
March 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Pediatr Neurol 2018 10 7;87:48-56. Epub 2018 May 7.

Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, California. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183034
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.012DOI Listing
October 2018

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.

JAMA Pediatr 2018 08;172(8):779-780

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamapediatrics.2018.0769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142924PMC
August 2018

Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms.

J Child Neurol 2018 05 26;33(6):405-412. Epub 2018 Mar 26.

4 Neuroradiology Division, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://journals.sagepub.com/doi/10.1177/0883073818760424
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http://dx.doi.org/10.1177/0883073818760424DOI Listing
May 2018

A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.

Neurobiol Dis 2018 03 20;111:91-101. Epub 2017 Dec 20.

Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803417PMC
March 2018

A Tangled Web.

Neurohospitalist 2015 Oct;5(4):253-4

Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/1941874414564983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572376PMC
October 2015

Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia.

Curr Neurol Neurosci Rep 2015 Aug;15(8):51

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA,

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http://dx.doi.org/10.1007/s11910-015-0574-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469678PMC
August 2015

Megalencephaly and Macrocephaly.

Semin Neurol 2015 Jun 10;35(3):277-87. Epub 2015 Jun 10.

Epilepsy Genetics Program, Division of Epilepsy and Clinical Electrophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1055/s-0035-1552622DOI Listing
June 2015

De novo mutations in epileptic encephalopathies.

Nature 2013 Sep 11;501(7466):217-21. Epub 2013 Aug 11.

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http://dx.doi.org/10.1038/nature12439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011PMC
September 2013

Evidence of reactive astrocytes but not peripheral immune system activation in a mouse model of Fragile X syndrome.

Biochim Biophys Acta 2010 Nov 1;1802(11):1006-12. Epub 2010 Jul 1.

Department of Psychiatry and behavioral Neurobiology, University of Alabama at Birmingham, Birmingham, AL 35294-0017, USA.

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http://dx.doi.org/10.1016/j.bbadis.2010.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2942952PMC
November 2010

GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism.

PLoS One 2010 Mar 16;5(3):e9706. Epub 2010 Mar 16.

Department of Psychiatry and Behavioral Neurobiology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009706PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838793PMC
March 2010

Lithium ameliorates altered glycogen synthase kinase-3 and behavior in a mouse model of fragile X syndrome.

Biochem Pharmacol 2010 Feb;79(4):632-46

Department of Psychiatry and Behavioral Neurobiology, 1720 7th Ave South, Sparks Center 1057, University of Alabama at Birmingham, Birmingham, AL 35294-0017, USA.

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http://dx.doi.org/10.1016/j.bcp.2009.09.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810609PMC
February 2010

Glycogen synthase kinase-3 regulates microglial migration, inflammation, and inflammation-induced neurotoxicity.

Cell Signal 2009 Feb 29;21(2):264-73. Epub 2008 Oct 29.

Department of Psychiatry and Behavioral Neurobiology, 1720 Seventh Avenue South, Sparks Center 1057, University of Alabama at Birmingham, Birmingham, AL 35294-0017, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S089865680800324
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http://dx.doi.org/10.1016/j.cellsig.2008.10.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2630396PMC
February 2009

Elevated glycogen synthase kinase-3 activity in Fragile X mice: key metabolic regulator with evidence for treatment potential.

Neuropharmacology 2009 Feb 14;56(2):463-72. Epub 2008 Oct 14.

St. Luke's-Roosevelt Institute for Health Sciences, Columbia University, 432 W. 58th St., Rm. 411, New York, NY 10019, USA.

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http://dx.doi.org/10.1016/j.neuropharm.2008.09.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2707186PMC
February 2009

Glycogen synthase kinase-3 (GSK3): inflammation, diseases, and therapeutics.

Neurochem Res 2007 Apr-May;32(4-5):577-95. Epub 2006 Aug 30.

Department of Psychiatry and Behavioral Neurobiology, University of Alabama at Birmingham, Sparks Center 1057, 1720 Seventh Avenue South, Birmingham, AL 35294-0017, USA.

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http://dx.doi.org/10.1007/s11064-006-9128-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1970866PMC
May 2007