Results 101 to 110 of about 2,430,619 (291)

Disease Funding and NIH Priority Setting [PDF]

, 1998
Research at the National Institutes of Health (NIH) has strong political support, but a heated debate rages over the allocation of NIH funds among various diseases. NIH contends that decisions are made based on scientific opportunity while critics of the
Johnson, Judith A.
core  

Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta

, 2009
Intramural NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [Z99 ...
BECERİK, SEMA, Firatli, E., Becerik, S., Cogulu, D., Ozdemir-Ozenen, D., Hart, T. C., Emingil, G., ÇOĞULU, DİLŞAH, Sulima, P. P., EMİNGİL, GÜLNUR, Han, S. T., Hart, P. S.   +11 more
core   +1 more source

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

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

NIH Toolbox Cognition User Guide

The NIH Toolbox Cognition battery is a suite of digital cognitive assessment administered via iPad. Version 2 of the NIH Toolbox was used during Add Health Wave VI data collection period and was accessed via the NIH Toolbox application on a 9th ...
Stebbins, Rebecca C., Aiello, Allison E., Plassman, Brenda L., Parker, Cherese N.B., Hummer, Robert A., Bennett, David A., Rob, Farizah I., Manly, Jennifer J.   +7 more
core   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz, Neha V. Safi, Iliana Pliska‐Bloch, Ulrike W. Kaunzner, Ha Luu, Mert Sisman, Yi Wang, Thanh D. Nguyen, Sandra Hurtado Rúa, Susan A. Gauthier   +9 more
wiley   +1 more source

KDM3B inhibitors disrupt the oncogenic activity of PAX3-FOXO1 in fusion-positive rhabdomyosarcoma

Nature Communications
Fusion-positive rhabdomyosarcoma (FP-RMS) is an aggressive pediatric sarcoma driven primarily by the PAX3-FOXO1 fusion oncogene, for which therapies targeting PAX3-FOXO1 are lacking.
Yong Yean Kim, Berkley E. Gryder, Ranuka Sinniah, Megan L. Peach, Jack F. Shern, Abdalla Abdelmaksoud, Silvia Pomella, Girma M. Woldemichael, Benjamin Z. Stanton, David Milewski, Joseph J. Barchi, John S. Schneekloth, Raj Chari, Joshua T. Kowalczyk, Shilpa R. Shenoy, Jason R. Evans, Young K. Song, Chaoyu Wang, Xinyu Wen, Hsien-Chao Chou, Vineela Gangalapudi, Dominic Esposito, Jane Jones, Lauren Procter, Maura O’Neill, Lisa M. Jenkins, Nadya I. Tarasova, Jun S. Wei, James B. McMahon, Barry R. O’Keefe, Robert G. Hawley, Javed Khan   +31 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

NIH Austerity?

BioTechniques, 2012
Nathan S. Blow
doaj   +1 more source