Publications by authors named "Elaine Marchi"

10Publications

Diagnosis of late-infantile neuronal ceroid lipofuscinosis using dried blood spot-based assay for TPPI enzyme activity: TPPI diagnostic assay from DBS.

Clin Chim Acta 2020 Aug 13;507:62-68. Epub 2020 Apr 13.

Department of Molecular Biology, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, United States. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2020.04.010DOI Listing
August 2020

Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents.

Autism Res 2018 05 2;11(5):707-712. Epub 2018 Feb 2.

Department of Psychology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.

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http://doi.wiley.com/10.1002/aur.1934
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http://dx.doi.org/10.1002/aur.1934DOI Listing
May 2018

Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome.

Am J Med Genet B Neuropsychiatr Genet 2017 Dec 30;174(8):772-778. Epub 2017 Aug 30.

The Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.b.32575DOI Listing
December 2017

Effect of DYRK1A activity inhibition on development of neuronal progenitors isolated from Ts65Dn mice.

J Neurosci Res 2012 May 18;90(5):999-1010. Epub 2012 Jan 18.

Department of Developmental Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.

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http://dx.doi.org/10.1002/jnr.23007DOI Listing
May 2012

The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes.

Acta Neuropathol 2010 Jun 3;119(6):755-70. Epub 2010 Mar 3.

Department of Developmental Neurobiology, NYS Institute for Basic Research in Developmental Disabilities (IBR), 1050 Forest Hill Road, Staten Island, NY 10314, USA.

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http://dx.doi.org/10.1007/s00401-010-0655-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869041PMC
June 2010