Zobrazeno 1 - 10
of 98
pro vyhledávání: '"F. John Meaney"'
Publikováno v:
Journal of Methods and Measurement in the Social Sciences, Vol 1, Iss 1, Pp 8-18 (2010)
Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular
Externí odkaz:
https://doaj.org/article/dd429e9f69904103856cc6774bdae9b6
Autor:
William S. Garver, David Jelinek, F. John Meaney, James Flynn, Kathleen M. Pettit, Glen Shepherd, Randall A. Heidenreich, Cate M. Walsh Vockley, Graciela Castro, Gordon A. Francis
Publikováno v:
Journal of Lipid Research, Vol 51, Iss 2, Pp 406-415 (2010)
Niemann-Pick type C1 disease (NPC1) is an autosomal recessive lysosomal storage disorder characterized by neonatal jaundice, hepatosplenomegaly, and progressive neurodegeneration. The present study provides the lipid profiles, mutations, and correspo
Externí odkaz:
https://doaj.org/article/d28a31717cb24b1ab99dc4e314a83230
Publikováno v:
Journal of Methods and Measurement in the Social Sciences, Vol 1, Iss 2 (2011)
Reports an error in Davis et al. (2010). The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum Stambler
Externí odkaz:
https://doaj.org/article/9017d00f96724b79b1491f2234ae53f3
Autor:
Bénédicte Héron, Marie T. Vanier, Marc C. Patterson, Robert Giugliani, Daniel W. Rosenberg, William S. Garver, Jackie Imrie, Olivier Morand, Yann Nadjar, Patrick Moneuse, F. John Meaney, Barbara Schwierin, Helena Jahnová
Publikováno v:
Journal of Inherited Metabolic Disease
Miglustat has been indicated for the treatment of Niemann‐Pick disease type C (NP‐C) since 2009. The aim of this observational study was to assess the effect of miglustat on long‐term survival of patients with NP‐C. Data for 789 patients from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ee288721a12870f8e8b8e36c245ac0
https://doi.org/10.1002/jimd.12245
https://doi.org/10.1002/jimd.12245
Autor:
Christopher Cunniff, Maureen S. Durkin, Rebecca A. Harrington, Margaret Kurzius-Spencer, Deborah Christensen, Sydney Pettygrove, Sydney A. Rice, Anita L. Pedersen, F. John Meaney, Gnakub N. Soke
Publikováno v:
Research in Autism Spectrum Disorders. 56:61-71
Background Autism spectrum disorder (ASD), intellectual disability (ID), and behavioral problems commonly co-occur, leading to increased impairment, diagnostic confusion, and treatment delays. Using data from a large surveillance population of childr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb235e1110e109e1a49b720cf06a2df8
https://doi.org/10.1016/j.rasd.2018.09.002
https://doi.org/10.1016/j.rasd.2018.09.002
Autor:
F. John Meaney, Cynthia Taylor
Publikováno v:
Britannica Online
Externí odkaz:
http://academic.eb.com/levels/collegiate/article/605390
Autor:
David Meyre, Roger A. Vaughan, L. John Horwood, Randi Garcia-Smith, Renee C. LeBoeuf, Kristina A. Trujillo, F. John Meaney, William S. Garver, Robert A. Orlando, Randall A. Heidenreich, Nicholas P. Gannon, Hao Wei, Joseph J. Castillo, David Jelinek
Publikováno v:
American Journal of Physiology-Endocrinology and Metabolism. 313:E183-E194
A genome-wide association study (GWAS) reported that common variation in the human Niemann-Pick C1 gene ( NPC1) is associated with morbid adult obesity. This study was confirmed using our BALB/cJ Npc1 mouse model, whereby heterozygous mice ( Npc1+/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9327071f7faa945b3bcd2d89062473
https://doi.org/10.1152/ajpendo.00369.2016
https://doi.org/10.1152/ajpendo.00369.2016
Autor:
Merlin G. Butler, F. John Meaney
Publikováno v:
Genetics of Developmental Disabilities ISBN: 9780429264078
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::165e542007c22fc1d4631370b09980fa
https://doi.org/10.1201/9780429264078-26
https://doi.org/10.1201/9780429264078-26
Publikováno v:
Genetics of Developmental Disabilities ISBN: 9780429264078
Genetics of Developmental Disabilities
Genetics of Developmental Disabilities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ba05e95f064e3ea4c49b4b649b9e70e
https://doi.org/10.1201/9780429264078-2
https://doi.org/10.1201/9780429264078-2
Autor:
Merlin Butler, F. John Meaney
Published in 2005: Genetics of Developmental Disabilities is written as a textbook and resource for physicians, basic and clinical researchers, and other professionals, students, and health care providers. Those interested in the causes and scientifi