Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Laynie Dratch"'
Autor:
Colleen C. Muraresku, Elizabeth M. McCormick, Lydia Rockart, T. Blaine Crowley, Stephanie Asher, Amanda Back, Sarah M. Baldino, Emma Bedoukian, Allison D. Britt, Natalie Burrill, Cara Cacioppo, Dana Farengo Clark, Mary Egan Clark, Laura Conway, Laynie Dratch, Holly A. Dubbs, Nicole M. Engelhardt, Natalie Ginn, Christopher Gray, Tiff Hartman, Evan R. Hathaway, Katherine L. Helbig, Lily Hoffman-Andrews, Stefanie Kasperski, Beth A. Keena, Kierstin N. Keller, Jessica M. Long, Lauren Lulis, Laina Lusk, Daniel E. McGinn, Rebecca Mueller, Rache A. Paul, Lisa Pilchman, Jacquelyn Powers, Sarah E. Raible, Sara Reichert, Alyssa L. Rippert, Angela G. Arnold, Sarah M. Ruggiero, Erica Schindewolf, Katie Rose Sullivan, Shannon Terek, Bekah Wang, McKenzie Wells, Natalia Wisniewski, Renee Wright, Elisabeth McCarty Wood, Stacy Woyciechowski, Kristin Zelley, Kathleen D. Valverde, Donna M. McDonald-McGinn
Publikováno v:
Genes, Vol 15, Iss 7, p 867 (2024)
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs’ evolving contributions to the literature, with the goal of facilitating worldwide pro
Externí odkaz:
https://doaj.org/article/59c3bef6795540fa99ac77b828440db8
Autor:
Laynie Dratch, Weiyi Mu, Elisabeth McCarty Wood, Brianna Morgan, Lauren Massimo, Cynthia Clyburn, Tanya Bardakjian, Murray Grossman, David J. Irwin, Katheryn A.Q. Cousins
Publikováno v:
PEC Innovation, Vol 2, Iss , Pp 100108- (2023)
Objective: There are limited studies exploring the support and education needs of individuals at-risk for or diagnosed with hereditary frontotemporal degeneration (FTD) and/or amyotrophic lateral sclerosis (ALS). This study evaluated a novel conferen
Externí odkaz:
https://doaj.org/article/18b9648482e94451bcc8baeb04bcffbc
Autor:
Laynie Dratch, Tanya M. Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Lauren Elman, Colin Quinn, Michael H. Guo, Steven S. Scherer, Defne A. Amado
Publikováno v:
Biology, Vol 13, Iss 2, p 93 (2024)
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel t
Externí odkaz:
https://doaj.org/article/10e85a1fa617400bbfe8c2f15de2799c
Autor:
Kelsey Johnson, Meron Azage, Nareen Babaian, Aaron Baldwin, Laynie Dratch, Rachel Paul, Colin Quinn, Tanya Bardakjian
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100231- (2023)
Externí odkaz:
https://doaj.org/article/4093467553af42e9b4f98d06f6480577
Autor:
Lucia A A, Giannini, Daniel T, Ohm, Annemieke J M, Rozemuller, Laynie, Dratch, EunRan, Suh, Vivianna M, van Deerlin, John Q, Trojanowski, Edward B, Lee, John C, van Swieten, Murray, Grossman, Harro, Seelaar, David J, Irwin
Publikováno v:
Acta neuropathologica. 144(6)
Frontotemporal lobar degeneration with MAPT pathogenic variants (FTLD-MAPT) has heterogeneous tau pathological inclusions postmortem, consisting of three-repeat (3R) or four-repeat (4R) tau isoforms, or a combination (3R + 4R). Here, we studied grey
Autor:
Katheryn A.Q. Cousins, Leslie M. Shaw, Sanjana Shellikeri, Laynie Dratch, Luis Rosario, Lauren B. Elman, Colin Quinn, Defne A. Amado, David A. Wolk, Thomas F. Tropea, Alice Chen-Plotkin, David J. Irwin, Murray Grossman, Edward B. Lee, John Q. Trojanowski, Corey T. McMillan
ObjectivePlasma phosphorylated tau (p-tau181) is reliably elevated in Alzheimer’s disease (AD), but less explored is its specificity relative to other neurodegenerative conditions. Here we find novel evidence that plasma p-tau181 is elevated in amy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8618745a3fb546e28d2008454a565f6
https://doi.org/10.1101/2022.04.10.22273671
https://doi.org/10.1101/2022.04.10.22273671
Autor:
Tanya Bardakjian, Pedro Gonzalez-Alegre, Anna Raper, Rachel Paul, Morgan R Brzozowski, Laynie Dratch, Aaron Baldwin, Thomas F. Tropea
Publikováno v:
Journal of Genetic Counseling
The COVID‐19 pandemic rapidly changed genetic counseling services across the United States. At the University of Pennsylvania (UPenn), a large academic hospital in an urban setting, nearly all genetic counseling (GC) visits for adult–onset disord
Autor:
Laynie Dratch, Jeffrey S. Phillips, Sanjeev N. Vaishnavi, Sharon X. Xie, Corey T. McMillan, David J. Irwin, John Q. Trojanowski, David A. Wolk, Edward B. Lee, Leslie M. Shaw, Carlo Ferrarese, Fulvio Da Re, Murray Grossman
Amnestic Alzheimer’s disease is characterized by early atrophy of the hippocampus and medial temporal lobes before spreading to neocortex. In contrast, non-amnestic Alzheimer’s patients have relative sparing of the hippocampus, but the pattern in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e0d9003a79f2af0816368a2017ec59
http://hdl.handle.net/10281/182975
http://hdl.handle.net/10281/182975
[P4–238]: AMNESTIC AND NON‐AMNESTIC PHENOTYPES OF ALZHEIMER'S DISEASE: AN MRI‐BASED PHASING ANALYSIS
Autor:
David J. Irwin, Leslie M. Shaw, David A. Wolk, Carlo Ferrarese, Fulvio Da Re, Jeffrey S. Phillips, Corey T. McMillan, Murray Grossman, Edward B. Lee, John Q. Trojanowski, Laynie Dratch
Publikováno v:
Alzheimer's & Dementia. 13