Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Ruth K Abramson"'
Autor:
Daria Salyakina, Holly N Cukier, Joycelyn M Lee, Stephanie Sacharow, Laura D Nations, Deqiong Ma, James M Jaworski, Ioanna Konidari, Patrice L Whitehead, Harry H Wright, Ruth K Abramson, Scott M Williams, Ramkumar Menon, Jonathan L Haines, John R Gilbert, Michael L Cuccaro, Margaret A Pericak-Vance
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e26049 (2011)
Copy number variations (CNVs) are a major cause of genetic disruption in the human genome with far more nucleotides being altered by duplications and deletions than by single nucleotide polymorphisms (SNPs). In the multifaceted etiology of autism spe
Externí odkaz:
https://doaj.org/article/a763b4dff8ec48fdad221a499acb13ca
Advances in human genomics and genetics are revolutionizing healthcare and ushering in a new era of genetic information-based precision or personalized medical care. Despite a growing need for genetic testing and clinical and medical genetic services
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5fcf57ff1978ec8e220ba3dbe68fc35
https://doi.org/10.1016/b978-0-12-817344-2.00026-5
https://doi.org/10.1016/b978-0-12-817344-2.00026-5
Autor:
Ruth K. Abramson, Jeffrey Addison, Adnan Alsadah, Ashok Balasubramanyam, Mir Reza Bekheirnia, Nasim Bekheirnia, John Christopher Berens, Katie Lee Bergstrom, Thomas D. Bird, Maria Blazo, Nicola Brunetti-Pierri, Lindsay Burrage, Sandra Darilek, Shweta U. Dhar, Harry C. Dietz, Tanya N. Eble, Edward D. Esplin, David Flannery, J. Scott Gabrielsen, Jaya Ganesh, Aixa Gonzalez Garcia, Monica Giovanni, Kevin E. Glinton, Christi J. Guerrini, Trevor D. Hadley, Jessica Hause, Lauren E. Hipp, Fuki M. Hisama, Sarah Huguenard, Krystal M. Jones, Dolores J. Lamb, Gabriel Lazaro-Munoz, Brendan Lee, Moise L. Levy, Gretchen MacCarrick, Ronit Marom, Amy L. McGuire, Luisa Mestroni, Avni Mody, David R. Murdock, Michael F. Murray, Sandesh C.S. Nagamani, Cynthia Peacock, Jennifer E. Posey, Huma Rana, Jill A. Rosenfeld, Susan L. Samson, Fernando Scaglia, Aeron M. Small, Matthew R.G. Taylor, Megan E. Tucker, Wendy R. Uhlmann, Ignatia B. Van den Veyver, Jaime Vengoechea, Jennifer Weiss, Dina Winograd, Wojciech Wiszniewski, Sarvari Yellapragada, Anna Zakas, Lilei Zhang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffc6e3ac620bcc39030b205dbdb0e88d
https://doi.org/10.1016/b978-0-12-817344-2.00034-4
https://doi.org/10.1016/b978-0-12-817344-2.00034-4
Autor:
Verle D. Valentine, David Erlanger, Gregory Nichols, Richard Sloane, Ruth K. Abramson, Jeffery T. Barth, Ellen Bennett, Robert C. Cantu, Leslie Galloway, Daniel T. Laskowitz, Thomas R. Terrell, Douglas McKeag
Publikováno v:
British Journal of Sports Medicine. 52:192-198
Background/aimTo evaluate the association of genetic polymorphisms APOE,APOEG-219T promoter, microtubule associated protein(MAPT)/tauexon 6 Ser53Pro, MAPT/tauHist47Tyr,IL-6572 G/C andIL-6RAsp358Alawith the risk of concussion in college athletes.Metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86c86713248897698046808378026c4e
https://doi.org/10.1136/bjsports-2016-097419
https://doi.org/10.1136/bjsports-2016-097419
Autor:
John E. Bragg, Anne Kinsman, John E. Williams, Frampton Gwynette, C. Lindsay DeVane, Eve G. Spratt, Ruth K. Abramson, Nancy R. Powers, Craig A. Stuck, Markus J.P. Kruesi, Laura A. Carpenter, Shelley T. Sherk, Alicia G. Hall, Catherine C. Bradley, Jennifer L. Donovan, Sarah Raven, Mark E. Geesey, Jane M. Charles
Publikováno v:
Pharmacotherapy
STUDY OBJECTIVE: The objective of this trial—Biomarkers in Autism of Aripiprazole and Risperidone Treatment (BAART)—was to provide support and guidance for an evidence-based approach for the selection and monitoring of initial pharmacotherapy in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c8a51ab68c8cae3450f708612ab7b2
https://europepmc.org/articles/PMC6555676/
https://europepmc.org/articles/PMC6555676/
Autor:
Ruth K. Abramson, Alicia Hall, Laura Boccanfuso, Jason M. O'Kane, Harry H. Wright, Sarah Scarborough
Publikováno v:
Autonomous Robots. 41:637-655
Recent research has employed socially assistive robots as catalysts for social interaction and improved communication in young children with autism spectrum disorder (ASD). Studies describe observed therapeutic outcomes such as increased speech, soci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f3ebd69e6af84e3e21674954b1a0737
https://doi.org/10.1007/s10514-016-9554-4
https://doi.org/10.1007/s10514-016-9554-4
Publikováno v:
The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry. 17(6)
We sought to compare serum carnitine levels and clinical correlates between stable outpatients and acutely hospitalised individuals with diagnoses of bipolar disorder and schizophrenia.We obtained clinical information as well as serum levels for tota
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e6f3c4c36671e8422ceef6bab70b204
https://pubmed.ncbi.nlm.nih.gov/27088656
https://pubmed.ncbi.nlm.nih.gov/27088656
Autor:
Michael A. Schmidt, Patrice L. Whitehead, Dale J. Hedges, Jonathan L. Haines, Scott M. Williams, Harry H. Wright, Michael L. Cuccaro, Ruth K. Abramson, Athena Hadjixenofontos, Ramkumar Menon, John R. Gilbert, Ioanna Konidari, Eden R. Martin, Jacob L. McCauley, Margaret A. Pericak-Vance
Publikováno v:
Annals of Human Genetics. 77:9-21
Despite the increasing speculation that oxidative stress and abnormal energy metabolism may play a role in Autism Spectrum Disorders (ASD), and the observation that patients with mitochondrial defects have symptoms consistent with ASD, there are no c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44232254d4aa0c1dfd43d8dfa37ec992
https://doi.org/10.1111/j.1469-1809.2012.00736.x
https://doi.org/10.1111/j.1469-1809.2012.00736.x
Autor:
Patrice L. Whitehead, Harry H. Wright, Margaret A. Pericak-Vance, Vera Mayo, Michael L. Cuccaro, Juan I. Young, John R. Gilbert, Brittany L. Butler, Joycelyn M. Lee, Sandhya S. Ramsook, Alexander J. Abrams, Jonathan L. Haines, Ruth K. Abramson, Deqiong Ma, Joseph A. Rantus, Holly N. Cukier
Publikováno v:
Autism Research. 5:385-397
The methyl-CpG-binding domain (MBD) gene family was first linked to autism over a decade ago when Rett syndrome, which falls under the umbrella of autism spectrum disorders (ASDs), was revealed to be predominantly caused by MECP2 mutations. Since tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be285acf764647b7e08239d5486c1610
https://doi.org/10.1002/aur.1251
https://doi.org/10.1002/aur.1251
Autor:
Tammy Gillis, Tiffany C. Hadzi, Ruth K. Abramson, Andrea Novelletto, Eliana Marisa Ramos, Ira Shoulson, Marcy E. MacDonald, Ronald J. Trent, Ferdinando Squitieri, Madaline B. Harrison, Russell L. Margolis, James F. Gusella, Estrella Gómez-Tortosa, Ji Hyun Lee, Steven M. Hersch, Patrick J. Morrison, Karen Marder, Carmen Ayuso, Shotaro Kishikawa, H. D. Rosas, Oksana Suchowersky, Elizabeth McCusker, Randi Jones, Audrey E. Hendricks, Andrea Zanko, Diane Lucente, Jayalakshmi S. Mysore, G. Bernhard Landwehrmeyer, Christopher A. Ross, Samuel Frank, Cinzia Gellera, Martha Nance, Jong-Min Lee, Marina Frontali, Tetsuo Ashizawa, Marie Saint-Hilaire, Richard H. Myers, Michael R. Hayden, Jorge Sequeiros
Publikováno v:
Biochemical and Biophysical Research Communications. 424:404-408
Huntington's disease is a neurodegenerative disorder caused by an expanded CAG trinucleotide repeat whose length is the major determinant of age at onset but remaining variation appears to be due in part to the effect of genetic modifiers. GRIK2, whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17171d5391d8da7e88fb456bd0b5a5f5
https://doi.org/10.1016/j.bbrc.2012.06.120
https://doi.org/10.1016/j.bbrc.2012.06.120