Zobrazeno 1 - 10 of 94 pro vyhledávání: '"William D, Graf"'
1
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Autor: Kenneth A. Myers, Ebba Alkhunaizi, Michelle M. Morrow, Jiddeke J.P. van de Kamp, Elysa J. Marco, Suma P. Shankar, Harvey B. Sarnat, Marwan Shinawi, Jacqueline L. Steele, Megan Glassford, Colette P. DeFilippo, Tracy Brandt, Amy Waldman, Houda Zghal Elloumi, Holly Dubbs, Ganka Douglas, Sumit Parikh, Kristin G. Monaghan, Cyril Mignot, David Chitayat, Bénédicte Héron, Linda E. Kim, Farrah Rajabi, Shane C. Quinonez, William D. Graf, Mark C. Hannibal, Aravindhan Veerapandiyan
Publikováno v: Steele, J L, Morrow, M M, Sarnat, H B, Alkhunaizi, E, Brandt, T, Chitayat, D A, DeFilippo, C P, Douglas, G V, Dubbs, H A, Elloumi, H Z, Glassford, M R, Hannibal, M C, Héron, B, Kim, L E, Marco, E J, Mignot, C, Monaghan, K G, Myers, K A, Parikh, S, Quinonez, S C, Rajabi, F, Shankar, S P, Shinawi, M S, van de Kamp, J J P, Veerapandiyan, A, Waldman, A T & Graf, W D 2022, ' Semaphorin-Plexin Signaling : From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome ', Pediatric Neurology, vol. 126, pp. 65-73 . https://doi.org/10.1016/j.pediatrneurol.2021.10.008
Pediatric Neurology, 126, 65-73. Elsevier Inc.
Background: Semaphorins and plexins are ligands and cell surface receptors that regulate multiple neurodevelopmental processes such as axonal growth and guidance. PLXNA3 is a plexin gene located on the X chromosome that encodes the most widely expres
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da65a60f3e1ab2780a3d905dd23f1bdf
https://doi.org/10.1016/j.pediatrneurol.2021.10.008
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2
Ethical Perspectives on Costly Drugs and Health Care
Autor: James A. Russell, William D. Graf, Leon G. Epstein, Amy Y. Tsou
Publikováno v: Neurology. 97:685-692
High drug prices have created substantial challenges for patients, physicians, health systems, and payers. High drug prices can affect patient care in many ways, including limiting access to treatment, increasing the burden of administrative tasks, a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4002c6e7be72c32e91e94746558315
https://doi.org/10.1212/wnl.0000000000012571
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3
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
Autor: Hudson H. Freeze, Deborah A. Nickerson, Pengfei Liu, Eva Morava, Lynne A. Wolfe, Raymond Y. Wang, Dorcas Wilson, Sergey A. Shiryaev, Yin Y Dong, Janice Cousin, Michael A. Ciliberto, C. G. Asteggiano, Gabriela Magali Papazoglu, Katherine Hammond, Alice Zalan, Timothy Blake Palculict, Kimberly M Houck, Jennefer N. Kohler, Richard Webster, Ingrid E. Scheffer, William D. Graf, John Christodoulou, Bobby G. Ng, Wendy K. Chung, Colleen E. McCormack, Austin Larson, Rossana Sanchez Russo, Fiona Gardiner, Jonathan A. Bernstein, Beth A. Pletcher, Farouq Thabet, Rhonda E. Schnur, Leah J. Rowe, Yue Si, María Mercedes Villanueva, Eileen Barr, Natalie Hauser, Erik A. Eklund, Alvaro H Serrano Russi, Rebecca Miller, Stephanie Grunewald, Andrea Schenone, Allysa Tuite, Suman Ghosh, Jill A. Rosenfeld, Mary-Alice Abbott, Sujana Madathil, Lindsay Rhodes, Shabeed Chelakkadan, Michael J. Bamshad, Naomi Meeks, George E. Hoganson, Kristin G. Monaghan
Publikováno v: J Inherit Metab Dis
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked g
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42986284a8c479aae9968eb318dd9d3
https://doi.org/10.1002/jimd.12290
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4
Beyond Autism: Advocacy for Neurodevelopmental Differences
Autor: William D. Graf
Publikováno v: The American Journal of Bioethics. 20:30-33
In “Ethical Advocacy Across the Autism Spectrum: Beyond Partial Representation,” McCoy et al. analyze several ethical and political issues related to autism advocacy and the diverging needs of vari...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d76986f8a8a8fa3bdcbfa42cf14e5c5
https://doi.org/10.1080/15265161.2020.1730503
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8
In defense of the AAN position on lawful physician-hastened death
Autor: Justin A. Sattin, Leon G. Epstein, Julie A. Kurek, Richard J. Bonnie, Matthew Rizzo, James A. Russell, William D. Graf, Matthew P. Kirschen, Robin Conwit, Robert M. Pascuzzi, Zachary Simmons, Daniel G. Larriviere, Lynne Taylor, Michael A. Williams
Publikováno v: Neurology. 94(15)
Thoughtful and reasonable people disagree about the boundaries of a physician’s responsibility to dying patients. A vexing case in point is the morality of a physician’s participation in patient requests for hastened death.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e99487012458b9c924070a2ef84c57
https://pubmed.ncbi.nlm.nih.gov/32753440
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9
The autism 'epidemic'
Autor: Geoffrey P. Miller, Isabelle Rapin, Leon G. Epstein, William D. Graf
Publikováno v: Neurology. 88:1371-1380
Classic autism has gradually evolved into the concept of a larger “spectrum disorder.” The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c165a979ffc7c3f880e4a185609a645
https://doi.org/10.1212/wnl.0000000000003791
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