Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Ann Lucas"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101064- (2024)
Avalglucosidase alfa therapy for Pompe disease is diluted in dextrose 5% solution in water (D5W) for infusion, which raises questions about the potential for hyperglycemia or worsening diabetes. Using United States insurance claims data, we assessed
Externí odkaz:
https://doaj.org/article/be3c43f64dfa4bd3ae4ee026ef9e0d7f
Autor:
Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2092-2104 (2023)
Abstract Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequen
Externí odkaz:
https://doaj.org/article/20920014e70b47b5aa204fcec46bc5ee
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-10 (2019)
Abstract Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulator
Externí odkaz:
https://doaj.org/article/aa0d6e0475214eea968236f5b2889c3d
Autor:
Jill A Rosenfeld, Blake C Ballif, Ann Lucas, Edward J Spence, Cynthia Powell, Arthur S Aylsworth, Beth A Torchia, Lisa G Shaffer
Publikováno v:
PLoS ONE, Vol 4, Iss 8, p e6568 (2009)
Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and
Externí odkaz:
https://doaj.org/article/17256c6256034e5d860fe603db7eecb6
Autor:
Ann Lucas
Publikováno v:
Ethnomusicology. 66:189-191
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::251e40bddc0b73c3b1c334fbfd9b48b1
https://doi.org/10.5406/21567417.66.1.12
https://doi.org/10.5406/21567417.66.1.12
Autor:
Lisa Sniderman King, Yinghong Pan, Babi Ramesh Reddy Nallamilli, Madhuri Hegde, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani
Publikováno v:
Molecular Genetics and Metabolism. 139:107565
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4978059be0ff41c7433c649899b26c1d
https://doi.org/10.1016/j.ymgme.2023.107565
https://doi.org/10.1016/j.ymgme.2023.107565
Publikováno v:
Journal of Genetic Counseling. 27:416-425
Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7042ad3fcbef4c56d131466c7af49bb8
https://doi.org/10.1007/s10897-017-0190-8
https://doi.org/10.1007/s10897-017-0190-8
Autor:
Richard S. Finkel, Holly L. Peay, Anil Kumar, STARnet, Teresa R. Johnson, Anthonie J. van Essen, Ann Lucas, Deborah J. Fox, Emma Ciafaloni, Jacob J. Gissy, Ann Martin
Publikováno v:
Neuromuscular disorders, 27(10), 905-910. PERGAMON-ELSEVIER SCIENCE LTD
Individuals with Duchenne muscular dystrophy (DMD) often exhibit delayed motor and cognitive development, including delayed onset of ambulation. Data on age when loss of independent ambulation occurs are well established for DMD; however, age at onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3baca2df8114d2dcd49f6d4af452535c
https://doi.org/10.1016/j.nmd.2017.06.002
https://doi.org/10.1016/j.nmd.2017.06.002
Publikováno v:
Neuromuscular Disorders. 26:860-864
Our study objective was to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. We surveyed women who have or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ab100fe32c08cf346510ab236d888c
https://doi.org/10.1016/j.nmd.2016.09.008
https://doi.org/10.1016/j.nmd.2016.09.008
Publikováno v:
BMC Neurology
BMC Neurology, Vol 19, Iss 1, Pp 1-10 (2019)
BMC Neurology, Vol 19, Iss 1, Pp 1-10 (2019)
Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulatory US male
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56b467111599e3f48a7e757ab7bbf60
http://europepmc.org/articles/PMC6498563
http://europepmc.org/articles/PMC6498563