Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome

Autor: Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone

Publikováno v: SAGE Open Medicine, Vol 12 (2024)

Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The

Externí odkaz: https://doaj.org/article/4350d693f92447c5b032e073bc4ebe02

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome

Autor: Igor Albizua, Krista Charen, Lisa Shubeck, Amy Talboy, Elizabeth Berry‐Kravis, Walter E. Kaufmann, Jennifer L. Stallworth, Katy T. Drazba, Craig A. Erickson, John A. Sweeney, Nicole Tartaglia, Steven F. Warren, Randi Hagerman, Stephanie L. Sherman, Stephen T. Warren, Peng Jin, Emily G. Allen

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)

Abstract Background Fragile X syndrome is characterized by a myriad of physical features, behavioral features, and medical problems. Commonly found behavioral features are hyperactivity, anxiety, socialization difficulties, and ASD. There is also a h

Externí odkaz: https://doaj.org/article/717aef9cc73241049366e53e7a876e91

Rare sex chromosome variation 48,XXYY: An integrative review

Autor: Kristy K. Martyn, Amy Talboy, Sharron Close, Amy Blumling

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:386-403

While the most common Sex Chromosome Aneuploidy (SCA) is 47,XXY, other variations, such as 48,XXYY, are less studied, perhaps due to its rarity. 48,XXYY occurs with an estimated prevalence of 1:18,000-40,000 male births. This SCA is associated with a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca482f432740c3645df4540656a31b1
https://doi.org/10.1002/ajmg.c.31789

Transition of Health Care in Children with Chronic Health Conditions

Autor: Amy Talboy, Amy Blumling, Kristy K. Martyn, Susan Brasher, Sharron Close

Publikováno v: Advances in Family Practice Nursing. 1:201-210

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::92a9924f3dba3b02dc8c49354326e4d2
https://doi.org/10.1016/j.yfpn.2019.01.004

Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer’s Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study

Autor: Kristi Wilmes, Jason Woodward, Carolyn Revta, Tatiana Foroud, Kavita Krell, Priya S. Kishnani, James Hendrix, H. Diana Rosas, Hampus Hillerstrom, Amy Talboy, Kelley Faber, Casey L. Evans, Jennifer Mason, Frederick A. Schmitt, Jennifer A. Zimmer, Jessie Nicodemus-Johnson, Sarah J. Hart, Anna J. Esbensen, Howard Feldman, Jeffrey L. Dage, Cesar Ochoa-Lubinoff, Amy Torres, Melissa R. Stasko, David C. Airey, Anna D. Burke, Stephanie L. Santoro, Suzanne Hendrix, Ira T. Lott, Elizabeth Head, Angela Britton, Brian G. Skotko, Kelsey Haugen, Alberto C.S. Costa, Brian Chicoine, Duvia Lara Ledesma, Kim Schafer, Florence Lai, Jacqueline Chen, Ronelyn Chavez, Margaret B. Pulsifer, Nicholas K. Proctor, George T. Capone, William C. Mobley, Thomas Scheidemantel, Tracie C. Rosser, Eric Doran

Publikováno v: Journal of Clinical Medicine
Volume 10
Issue 9
Journal of Clinical Medicine, Vol 10, Iss 1907, p 1907 (2021)
Journal of clinical medicine, vol 10, iss 9

With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer’s disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acffc2d78ff7d459333ec8d37ba8644f
https://doi.org/10.3390/jcm10091907