Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Samuel R, Pierce"'
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionThe delivery of precision medicine in rehabilitation will require not only precise measurement of participant response, but also precise measurement of the “ingredients” of intervention and their dose. As an example, we report the mea
Externí odkaz:
https://doaj.org/article/894b08644aa5444585d7ca5d08598bc5
Autor:
Andrew J. Bauer, Bethany Auble, Amy L. Clark, Tina Y. Hu, Amber Isaza, Kyle P. McNerney, Daniel L. Metzger, Lindsey Nicol, Samuel R. Pierce, Richard Sidlow
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay an
Externí odkaz:
https://doaj.org/article/9aa8cd96d30c4def9908a9d3f71c8e2b
Autor:
Collin Kather, Frances S. Shofer, Jeong Inn Park, Daniel Bogen, Samuel R. Pierce, Konrad Kording, Kathleen A. Nilan, Huayan Zhang, Laura A. Prosser, Michelle J. Johnson
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Infants born pre-term are at an increased risk for developmental, behavioral, and motor delay and subsequent disability. When these problems are detected early, clinical intervention can be effective at improving functional outcomes. Current methods
Externí odkaz:
https://doaj.org/article/809398dec86a4180ae676e82901ba29d
Autor:
Laura A. Prosser, Julie Skorup, Samuel R. Pierce, Abbas F. Jawad, Andrew H. Fagg, Thubi H. A. Kolobe, Beth A. Smith
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundPhysical disability in individuals with cerebral palsy (CP) creates lifelong mobility challenges and healthcare costs. Despite this, very little is known about how infants at high risk for CP learn to move and acquire early locomotor skills
Externí odkaz:
https://doaj.org/article/1b28162d140e47489f86593cebe7efc3
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-10 (2018)
Abstract Background Cerebral palsy (CP) is the most common cause of physical disability in children. The best opportunity to maximize lifelong independence is early in motor development when there is the most potential for neuroplastic change, but ho
Externí odkaz:
https://doaj.org/article/fa5d7f3264b34d7db023c6c52446ad2d
Autor:
Francesco, Gavazzi, Samuel R, Pierce, Joseph, Vithayathil, Kristin, Cunningham, Kim, Anderson, Jacob, McCann, Ashley, Moll, Kayla, Muirhead, Omar, Sherbini, Erin, Prange, Holly, Dubbs, Laura, Tochen, Jamie, Fraser, Ingo, Helbig, Naomi, Lewin, Nivedita, Thakur, Laura A, Adang
Publikováno v:
Molecular Genetics and Metabolism. 137:26-32
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disorder characterized by iron accumulation in the brain with spectrum of neurodevelopmental and movement phenotypes. In anticipation of future clinical trials and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f3cc92f06c2300adf6a29b9700d66d
https://doi.org/10.1016/j.ymgme.2022.07.009
https://doi.org/10.1016/j.ymgme.2022.07.009
Autor:
Julie Xian, Kim Marie Thalwitzer, Jillian McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch, Jonathan Toib, Michael C. Kaufman, Danielle deCampo, Kristin Cunningham, Samuel R. Pierce, James Goss, Charlene Son Rigby, Steffen Syrbe, Michael Boland, Ben Prosser, Nasha Fitter, Sarah M. Ruggiero, Ingo Helbig
STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental endpoints have not yet been described in detail, which is a critical prerequisite for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5fd36473f823c7930b5215321aa1550
https://doi.org/10.1101/2023.05.10.23289776
https://doi.org/10.1101/2023.05.10.23289776
Publikováno v:
Child: Care, Health and Development.
Family empowerment in families of young children with cerebral palsy (CP) is an important consideration because the first few years of life can be overwhelming for parents. The purpose of this research was to investigate the relationship between fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::483bbeec98fc99071dd22534bb0ccaf4
https://doi.org/10.1111/cch.13091
https://doi.org/10.1111/cch.13091
Autor:
Tracy M. Flanders, Alier J. Franco, Kristen L. Lincul, Samuel R. Pierce, Edward R. Oliver, Julie S. Moldenhauer, N. Scott Adzick, Gregory G. Heuer
Purpose: To better understand the clinical course and impact of tethered cord release surgery on patients who have previously undergone open spinal dysraphism closure in utero. Methods: This is a single-center retrospective observational study on pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d72a7eb37f69b2ca775ab9c978ff45b
https://doi.org/10.21203/rs.3.rs-2154989/v1
https://doi.org/10.21203/rs.3.rs-2154989/v1