Výsledky vyhledávání - "Aaron D Besterman"

Akademický článek

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.

Autor: Aaron D Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A Bernstein, Yvette van Ierland, Anja A Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A Martinez-Agosto

Publikováno v: PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)

Smith-Kingsmore syndrome (SKS) is a rare neurodevelopmental disorder characterized by macrocephaly/megalencephaly, developmental delay, intellectual disability, hypotonia, and seizures. It is caused by dominant missense mutations in MTOR. The pathoge

Externí odkaz: https://doaj.org/article/f757fb86f4094e309faddeac52736bbc

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Dual orexin receptor antagonists for insomnia in youth with neurodevelopmental disorders: a case series and review

Autor: Aaron D Besterman, Shafali S Jeste

Publikováno v: European child & adolescent psychiatry, vol 32, iss 3

Insomnia is a common, impairing, and difficult-to-treat comorbidity in children with neurodevelopmental disorders (NDDs). Behavioral interventions can be challenging because of developmental and behavioral features that interfere with treatment. Medi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9c31b67449ade8c16636c26473ce2c
https://escholarship.org/uc/item/8769g7sf

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Catatonia in autism and other neurodevelopmental disabilities: a state-of-the-art review

Autor: Shavon Moore, Debha N. Amatya, Michael M. Chu, Aaron D. Besterman

Publikováno v: npj Mental Health Research. 1

Individuals with neurodevelopmental disabilities (NDDs) may be at increased risk for catatonia, which can be an especially challenging condition to diagnose and treat. There may be symptom overlap between catatonia and NDD-associated behaviors, such

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7aa0562b3270de605073a418c8672e85
https://doi.org/10.1038/s44184-022-00012-9

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The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service

Autor: Fabiola Quintero-Rivera, Joshua Sadik, Mark DeAntonio, Julian A. Martinez-Agosto, Michael Enenbach, Aaron D. Besterman

Publikováno v: Autism Research. 13:1450-1464

Diagnostic genetic testing is recommended for children with autism spectrum disorder and other neurodevelopmental disorders. One approach to improve access to genetic testing is to offer it on the inpatient child and adolescent psychiatry (CAP) servi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08c44928d8a066389514ffddfa2a35fa
https://doi.org/10.1002/aur.2338

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Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature

Autor: Minh G Nguyen, Lauren Tronick, Faraz Modirian, Rebecca Mardach, Aaron D Besterman

Publikováno v: Cold Spring Harbor molecular case studies, vol 8, iss 2

Cobalamin C disease is the most common complementation class of Cobalamin disorders. Here, we present a case of a 14-year-old male with early-onset cblC disease and autism spectrum disorder (ASD) admitted to our inpatient medical service for behavior

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e87fecce6d5b69d93f8fbdf50791a259
https://pubmed.ncbi.nlm.nih.gov/35105663

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Development and Implementation of a Chief Resident for Research Role in a Psychiatry Residency Training Program

Autor: Aaron D Besterman, Jody Williams, Erick Hung, Victor I. Reus, Chelsea A. Young, Stefana Morgan, Michael S. Jacob, Alison R. Hwong, Carol A. Mathews, Susan M. Voglmaier

Publikováno v: Advances in Medical Education and Practice

Alison R Hwong,1 Stefana Morgan,1 Chelsea Anne Young,2 Aaron D Besterman,3 Michael Jacob,1 Jody Williams,1 Victor I Reus,1 Carol A Mathews,4 Erick Hung,1 Susan Voglmaier1 1Department of Psychiatry and Behavioral Sciences, Weill Institute for Neurosci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9aee8222272bb5f52b6cf258f16ea8
https://www.dovepress.com/development-and-implementation-of-a-chief-resident-for-research-role-i-peer-reviewed-fulltext-article-AMEP

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The Diagnostic Journey of Genetically Defined Neurodevelopmental Disorders

Autor: Juliana Simon, Rujuta B. Wilson, Charlotte DiStefano, Carly Hyde, Vidya Saravandapandian, Aaron D Besterman, Shafali S Jeste

Background The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::70af779be982881d58510b735a03ffb3
https://doi.org/10.21203/rs.3.rs-832361/v1

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Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

Autor: Irma Gutierrez-Mejia, Thorsten Althoff, Anja A. Kattentidt-Mouravieva, Yvette van Ierland, Joshua Sadik, Mark Nellist, Aaron D. Besterman, Julian A. Martinez-Agosto, Jonathan A. Bernstein, Jeff Abramson, Peter Elfferich

Publikováno v: PLoS genetics, vol 17, iss 7
PLoS Genetics, 17(7):e1009651. Public Library of Science
PLoS Genetics
PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b5021b769fc2c5047eb261278eff5a
https://escholarship.org/uc/item/48x1267f

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