Publications by authors named "Stephen Amato"

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Scrambler Therapy for the Treatment of Chronic Central Pain: A Case Report.
Stephen J D'Amato, Maureen A Mealy, Michael A Erdek, Sharon Kozachik, Thomas J Smith

A A Pract· June 2018

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Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial.
Cary O Harding, R Stephen Amato, Mary Stuy, Nicola Longo, Barbara K Burton

Mol Genet Metab· May 2018

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Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Janet Thomas, Harvey Levy, Stephen Amato, Jerry Vockley, Roberto Zori

Mol Genet Metab· May 2018

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Whole Brain Imaging with Serial Two-Photon Tomography.
Stephen P Amato, Feng Pan, Joel Schwartz, Timothy M Ragan

Front Neuroanat· April 2016

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Identification of Phosphorylation Consensus Sequences and Endogenous Neuronal Substrates of the Psychiatric Risk Kinase TNIK.
Qi Wang, Stephen P Amato, David M Rubitski, Matthew M Hayward, Bethany L Kormos

J Pharmacol Exp Ther· February 2016

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Resveratrol up-regulates AMPA receptor expression via AMP-activated protein kinase-mediated protein translation.
Guan Wang, Stephen Amato, James Gilbert, Heng-Ye Man

Neuropharmacology· August 2015

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Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Abhimanyu Garg, Martin Kircher, Miguel Del Campo, R Stephen Amato, Anil K Agarwal

Am J Med Genet A· August 2015

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Microplastic pollution in the surface waters of the Laurentian Great Lakes.
Marcus Eriksen, Sherri Mason, Stiv Wilson, Carolyn Box, Ann Zellers, Stephen Amato

Mar Pollut Bull· December 2013

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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Piotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, Jian Li, Stephen Amato

Genome Res· September 2013

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AMPK signaling in neuronal polarization: Putting the brakes on axonal traffic of PI3-Kinase.
Stephen Amato, Heng-Ye Man

Commun Integr Biol· March 2012

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Bioenergy sensing in the brain: the role of AMP-activated protein kinase in neuronal metabolism, development and neurological diseases.
Stephen Amato, Heng-Ye Man

Cell Cycle· October 2011

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AMPK links cellular bioenergy status to the decision making of axon initiation in neurons.
Stephen Amato, Heng-Ye Man

Cell Logist· May 2011

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AMP-activated protein kinase regulates neuronal polarization by interfering with PI 3-kinase localization.
Stephen Amato, Xiuxin Liu, Bin Zheng, Lewis Cantley, Pasko Rakic

Science· April 2011

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Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
Barbara Wiśniowiecka-Kowalnik, Monika Nesteruk, Sarika U Peters, Zhilian Xia, M Lance Cooper, R Stephen Amato

Am J Med Genet B Neuropsychiatr Genet· July 2010

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Stephen Amato

J Med Genet· May 2010

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Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease.
Javier F Cardenas, R Stephen Amato

Semin Pediatr Neurol· March 2010

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Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability.
John B Moeschler, R Stephen Amato, Thomas Brewster, Leah Burke, Mary Beth Dinulos

Am J Med Genet C Semin Med Genet· August 2009

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Increased LIS1 expression affects human and mouse brain development.
Weimin Bi, Tamar Sapir, Oleg A Shchelochkov, Feng Zhang, Marjorie A Withers, Stephen S Amato

Nat Genet· February 2009

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Stephen Amato

Nat Genet· December 2008

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Regulation of AMPA receptor localization in lipid rafts.
Qingming Hou, Yunfei Huang, Stephen Amato, Solomon H Snyder, Richard L Huganir

Mol Cell Neurosci· June 2008

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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Shay Ben-Shachar, Zhishuo Ou, Chad A Shaw, John W Belmont, Millan S Patel, Stephen Amato

Am J Hum Genet· January 2008

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A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies.
Antonie D Kline, Constance A Griffin, Mary H Haddadin, Ilse Chudoba, Laura A Morsberger, R Stephen Amato

Am J Med Genet A· August 2004

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Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Bai-Lin Wu, Neal Lindeman, Va Lip, Albert Adams, R Stephen Amato

Genet Med· November 2002

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