Results 91 to 100 of about 111,679 (307)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

The Americans with Disabilities Act at 25: Cause for Celebration and Renewed Resolve [PDF]

, 2015
In this report, we review the progress our nation has made since the historic enactment of the Americans with Disabilities Act (ADA) in 1990. We highlight the critical role that P&As have in enforcing the ADA integration mandate, protecting and ...
Elizabeth Priaulx
core  

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Accessing emergency rest centres in the UK - lesson learnt [PDF]

, 2011
Emergency rest centres (ERC) are premises that are used for the temporary accommodation of evacuees during an emergency situation. They form an important part of emergency response, by providing a focal point for receiving people and providing food ...
Kipling, J, Newton, R, Ormerod, M
core   +2 more sources

Leave No One Behind? Analysing Sport Inclusion Policy‐Implementation for Persons With Disabilities in Ghana

Social Inclusion
Sport inclusion policies for persons with disabilities are prevalent in many countries; however, actual support in local communities is lacking or inadequately addressed. In this article, we analyse the implementation of sport inclusion policies and the extent to which they exclude or include disabled sport associations in Ghana’s District Sports Units.
Derrick Charway, Francis Asare, Allan Bennich Grønkjær   +2 more
openaire   +2 more sources

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Case Report: Constraint led strength and conditioning for Paralympic throwers with skeletal dysplasia

Frontiers in Sports and Active Living
IntroductionParalympic athletes with skeletal dysplasia (SD) require specialized strength and conditioning approaches due to unique anthropometric characteristics. This study examines how a constraints-led model optimizes training in an elite shot-putter
Lawrence W. Judge, Lawrence W. Judge, Exal Garcia-Carrillo, Exal Garcia-Carrillo   +3 more
doaj   +1 more source

Kenya Country Profile [PDF]

, 2004
[From Introduction] The country study for Kenya is part of the ILO project \u27Employment of People with Disabilities – the Impact of Legislation\u27, funded by the Government of Ireland, which aims to enhance the capacity of national governments in ...
InFocus Programme on Skills, Knowledge and Employability, International Labour Office   +1 more
core   +1 more source

Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li, Guilin Meng, Zijie Wang, Xiao Hu, Jing Cheng, Chu Chen, Tiannan Yang, Jiaxin Luo, Zizhen Meng, Xueyun Liu, Qi Li   +10 more
wiley   +1 more source

The Sports Act vis-a-vis integration of athletes with disabilities

Acta Iuris Stetinensis
In the past, sports activity mainly served as a means of rehabilitation for persons with disabilities (PWDs), leading to sports’ organizational structures to be limited primarily to athletes with disabilities (AWDs).
Jakub Zwierzchowski, Joanna Sobiecka
doaj   +1 more source