Results 61 to 70 of about 98,345 (280)
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon +12 more
wiley +1 more source
We report the bivariate HI- and H$_2$-stellar mass distributions of local galaxies in addition of an inventory of galaxy mass functions, MFs, for HI, H$_2$, cold gas, and baryonic mass, separately into early- and late-type galaxies.
Avila-Reese, Vladimir +4 more
core +2 more sources
Open cluster survival within the solar circle: Teutsch145 and Teutsch146 [PDF]
Teutsch145 and Teutsch146 are shown to be open clusters (OCs) orbiting well inside the Solar circle, a region where several dynamical processes combine to disrupt most OCs on a time-scale of a few 10^8yrs.
B. Barbuy +52 more
core +2 more sources
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Fibrillin 1 gene (Fbn1) mutations cause Marfan syndrome (MFS), triggering life-threatening aortic complications and multi-organ effects. MFS is increasingly linked to neurovascular complications, amplified by aortic surgery risks.
Gemma Manich +14 more
doaj +1 more source
A Simple Tuning Algorithm of Augmented Fuzzy Membership Functions
The successful application of fuzzy control depends to a large extent on the parameters of some subjective decisions, such as fuzzy membership function (MF).
Salah-Ud-Din Khokhar +4 more
doaj +1 more source
Sonographic screening of patients with Marfan syndrome (MFS) with echocardiograms and abdominal aortic sonography has become the standard of care to monitor aneurysm and/or dissection development. These anomalies are the leading cause of morbidity and mortality related to this syndrome.
Ray Pedrick +2 more
openaire +1 more source
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Miltefosine Lipid Nanocapsules for Single Dose Oral Treatment of Schistosomiasis Mansoni: A Preclinical Study. [PDF]
Miltefosine (MFS) is an alkylphosphocholine used for the local treatment of cutaneous metastases of breast cancer and oral therapy of visceral leishmaniasis.
Maha M Eissa +5 more
doaj +1 more source

