Results 41 to 50 of about 25,724 (259)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Local Analysis of Heterogeneous Intracellular Transport: Slow and Fast Moving Endosomes
Trajectories of endosomes inside living eukaryotic cells are highly heterogeneous in space and time and diffuse anomalously due to a combination of viscoelasticity, caging, aggregation and active transport.
Nickolay Korabel +6 more
doaj +1 more source
4 pages, Presented at the XX Marian Smoluchowski Symposium on Statistical Physics, Zakopane, Poland, September 22-27 ...
Vainstein, Mendeli H. +2 more
openaire +2 more sources
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source
Floquet Theory of Classical Relaxation in Time-Dependent Field
The anomalous transport of particles in the presence of a time-dependent field is considered in the framework of a comb model. This turbulent-like dynamics consists of inhomogeneous time-dependent advection along the x-backbone and Brownian motion along ...
Alexander Iomin
doaj +1 more source
Anomalous Diffusion at the Anderson Transitions [PDF]
Diffusion of electrons in three dimensional disordered systems is investigated numerically for all the three universality classes, namely, orthogonal, unitary and symplectic ensembles. The second moment of the wave packet $$ at the Anderson transition is shown to behave as $\sim t^a (a\approx 2/3)$.
Ohtsuki, Tomi, Kawarabayashi, Tohru
openaire +2 more sources
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley +1 more source
Anomalous diffusion in velocity space [PDF]
The problem of anomalous diffusion in the momentum space is considered on the basis of the appropriate probability transition function (PTF). New general equation for description of the diffusion of heavy particles in the gas of the light particles is formulated on basis of the new approach similar to one in coordinate space (S. Trigger et al.).
openaire +2 more sources
Anomalous Diffusion in Chaotic Scattering [PDF]
The anomalous diffusion is found for peripheral collision of atomic nuclei described in the framework of the molecular dynamics. Similarly as for chaotic billiards, the long free paths are the source of the long-time correlations and the anomalous diffusion.
Srokowski, T., Ploszajczak, M.
openaire +4 more sources

