Results 191 to 200 of about 675,688 (261)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Development of implementation strategies for the National Emergency Airway Registry for Pediatric Emergency Medicine (NEAR4PEM) pre-intubation checklist: a prospective, pre-implementation planning study. [PDF]

Implement Sci Commun
Wing R, Albanese AM, Prieto MM, Greenwald E, Harwayne-Gidansky I, Nagler J, Goldman MP, Tanzer JR, Miller K, Napolitano N, Nishisaki A.   +10 more
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

mHealth-supported tuberculosis contact investigation by community health workers in high-burden countries: a scoping review. [PDF]

Glob Health Action
Izhar MD, Wahab A, Istiono W, Mahendradhata Y.   +3 more
europepmc   +1 more source

Implementing multidomain non-pharmaceutical interventions for preventing cognitive decline in community-dwelling older adults in China: An embedded mixed-methods implementation study of determinants and strategies. [PDF]

Alzheimers Dement
Huang Z, Qiu G, Shi C, Chen R, Xue E, Wang Z, Xu DR, Ao X, Wang Y.   +8 more
europepmc   +1 more source

A strategy lacking policy? [PDF]

Cad Saude Publica
Gomes LB.
europepmc   +1 more source

Barriers and Facilitators to the Implementation of the Diabetes Prevention Program (DPP) in Health Settings: Protocol for a Mixed Methods Systematic Review. [PDF]

Campbell Syst Rev
Colom-Rosselló M, Abbate M, Capitán-Moyano L, Pastor-Ramon E, Fernández ME, Yañez AM, Bennasar-Veny M.   +6 more
europepmc   +1 more source

Facilitators and barriers to implementing national iron and folic acid supplementation programmes for adolescents in India: a protocol for systematic review. [PDF]

BMJ Open
Shah R, Shinde S, Akagwu O, Juvekar S, Fawzi W, Ahankari A.   +5 more
europepmc   +1 more source

Proceedings of the 18th Annual Conference on the Science of Dissemination and Implementation in Health. [PDF]

Implement Sci
europepmc   +1 more source