Results 311 to 320 of about 2,908,916 (364)

Barriers and facilitators in implementing evidence-based practice: a parallel cross-sectional mixed methods study among nursing administrators. [PDF]

BMC Nurs
Alsadaan N, Ramadan OME.
europepmc   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Building inclusive rehabilitation education: A scoping review protocol on EDI approaches and impact. [PDF]

PLoS One
Kokorelias KM, Chau V, Boutros HM, Wijekoon S, Singh H, Kalu M, Harris MT.   +6 more
europepmc   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Culturally responsive recommendations for eating disorder prevention and management for First Nations peoples in Australia: a policy scoping review. [PDF]

J Eat Disord
Gall Z, Smith H, Grant G, Kunaratnam K, Lee C, Kerslake F, Gall A.   +6 more
europepmc   +1 more source

High‐Fat and Low‐Carbohydrate Dietary Environments Are Linked to Reduced Idiopathic Epilepsy Incidence and Prevalence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dietary manipulations like ketogenic diets are established interventions for recalcitrant epilepsy. However, it remains unknown whether specific macronutrient exposure through dietary environments could possibly extend to primary preventive qualities, associated with changes in epilepsy disease burden (prevalence and incidence).
Duan Ni, Alistair Senior, David Raubenheimer, Stephen J. Simpson, Ralph Nanan   +4 more
wiley   +1 more source

Fostering an open surgical culture: strategies to eliminate inappropriate behavior in surgical practice. [PDF]

Ann Med Surg (Lond)
Blok JJ, Snijders HS, Huizing F, Schmitz RF, Kerstjens LJ, Sier VQ, Blok CC, Lijkwan MA, Schepers A.   +8 more
europepmc   +1 more source

Music Interventions in Hyperacute and Acute Stroke Patients: A Randomized Controlled Pilot Feasibility Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Music interventions have been shown to have beneficial effects on hemodynamic parameters, pain, and anxiety in various medical settings. However, music interventions in the setting of acute stroke have not been studied. The objective of this trial was to perform a pilot feasibility study of music interventions in the setting of acute
Jeffrey J. Fletcher, Allison Edberg, Ronald Grifka, Joan Westendorp, Augusto Elias, Jacquie Knott, Elizabeth Martin, Fazeel Siddiqui   +7 more
wiley   +1 more source

New artistic practices and cultural development. A simple adjustment or real change ?

, 2001
Philippe Henry
openalex   +1 more source