Results 51 to 60 of about 3,038,990 (309)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
Computational Evidence that Self-regulation of Creativity is Good for Society [PDF]
Excess individual creativity can be detrimental to society because creators invest in unproven ideas at the expense of propagating proven ones. Moreover, a proportion of individuals can benefit from creativity without being creative themselves by copying creators. We hypothesized that (1) societies increase their rate of cultural evolution by tempering
arxiv
Neutrino Physics at DPF 2013 [PDF]
The field of neutrino physics was covered at DPF 2013 in 32 talks, including three on theoretical advances and the remainder on experiments that spanned at least 17 different detectors.
Harris, Deborah A.
core
Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki+5 more
wiley +1 more source
JACMP – Founding and 2000–2004
Journal of Applied Clinical Medical Physics, EarlyView.
Michael Mills
wiley +1 more source
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn+29 more
wiley +1 more source
The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type
ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos+13 more
wiley +1 more source
Living Cognitive Society: a `digital' World of Views [PDF]
The current social reality is characterized by all-encompassing change, which disrupts existing social structures at all levels. Yet the prevailing view of society is based on the ontological primacy of stable hierarchical structures, which is no longer adequate.
arxiv
MoEDAL: Seeking magnetic monopoles and more at the LHC
The MoEDAL experiment (Monopole and Exotics Detector at the LHC) is designed to directly search for magnetic monopoles and other highly ionising stable or metastable particles arising in various theoretical scenarios beyond the Standard Model.
Mitsou, Vasiliki A.
core +1 more source