Zobrazeno 1 - 10
of 456
pro vyhledávání: '"C. Edmondson"'
Autor:
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidat
Externí odkaz:
https://doaj.org/article/3cdd2f60fd6f4e29b8ff4316b5846dbb
Autor:
Robyn A. Latessa, Shelley L. Galvin, Robert A. Swendiman, Joshua Onyango, Bayla Ostrach, Amy C. Edmondson, Scott A. Davis, David A. Hirsh
Publikováno v:
BMC Medical Education, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Background Psychological safety and accountability are frameworks to describe relationships in the workplace. Psychological safety is a shared belief by members of a team that it is safe to take interpersonal risks. Accountability refers to
Externí odkaz:
https://doaj.org/article/7765178f16024f0eb06ab9b362de8d7c
Autor:
Amy C. Edmondson, Jean-François Harvey
Today's global enterprises increasingly involve collaborative work by teams of experts operating across different professions, organizations, and industries. Extreme Teaming provides new insights into the world of complex, cross industry projects and
Autor:
Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)
Abstract A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients. A lack of
Externí odkaz:
https://doaj.org/article/41e06f0bf6614be19ee60576819b8b92
Autor:
Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz, Eva Morava
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder, but also from patie
Externí odkaz:
https://doaj.org/article/bbbb21ff54734a959fa4e0bc325550d8
Autor:
Barbara Terzic, Yue Cui, Andrew C. Edmondson, Sheng Tang, Nicolas Sarmiento, Daria Zaitseva, Eric D. Marsh, Douglas A. Coulter, Zhaolan Zhou
Publikováno v:
Neurobiology of Disease, Vol 148, Iss , Pp 105176- (2021)
CDKL5 deficiency disorder (CDD) is an infantile, epileptic encephalopathy presenting with early-onset seizures, intellectual disability, motor impairment, and autistic features. The disorder has been linked to mutations in the X-linked CDKL5, and mou
Externí odkaz:
https://doaj.org/article/bbfc407132014f8e9a4c34011aec79ba
Autor:
Rameen Shah, Christin Johnsen, Beth A. Pletcher, Andrew C. Edmondson, Tamas Kozicz, Eva Morava
Publikováno v:
American Journal of Medical Genetics Part A. 191:1626-1631
Autor:
Amy C. Edmondson, Derrick P. Bransby
Publikováno v:
Annual Review of Organizational Psychology and Organizational Behavior. 10:55-78
Since its renaissance in the 1990s, psychological safety research has flourished—a boom motivated by recognition of the challenge of navigating uncertainty and change. Today, its theoretical and practical significance is amplified by the increasing
Autor:
Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 24 (2022)
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes. The
Externí odkaz:
https://doaj.org/article/018239cea8904a618109a82df3f1a1e3
Autor:
Samuel, Frank, Claudia, Testa, Mary C, Edmondson, Jody, Goldstein, Elise, Kayson, Blair R, Leavitt, David, Oakes, Christine, O'Neill, Christina, Vaughan, Jacquelyn, Whaley, Nicholas, Gross, Mark Forrest, Gordon, Juha-Matti, Savola, Christopher A, Beck
Publikováno v:
CNS Drugs. 36:1207-1216
Deutetrabenazine is approved in the USA, China, Australia, Israel, Brazil, and South Korea for the treatment of chorea associated with Huntington disease.We aimed to evaluate the long-term safety and tolerability of deutetrabenazine for the treatment