Results 161 to 170 of about 4,558,127 (287)
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
Promoter toolset for CRE-mediated conditioned expression of genes during somatic gonad development in <i>Caenorhabditis elegans</i>. [PDF]
Borrego D +2 more
europepmc +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
Rapid commissioning of Brainlab Elements for SRS: end-to-end evaluation of Monte Carlo and pencil beam algorithm across homogeneous and heterogeneous phantom environments. [PDF]
Narayanan B +9 more
europepmc +1 more source
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +1 more source
Auto-tuning of a tunable structural insert
This paper considers the auto-tuning of structural inserts, placed into part of a structure to affect the transmission of bending vibrations there. Auto-tuning has the potential to optimise the vibration reduction produced by the insert even in the face ...
Jones, Richard W., +2 more
core
Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki +6 more
wiley +1 more source
Repeatability and reproducibility of MRI-derived radiomics on a 0.35 T MR-Linac using a tissue-mimicking phantom. [PDF]
Collard F +6 more
europepmc +1 more source
Objective Orofacial manifestations are significantly impactful in patients with systemic sclerosis (SSc) yet remain understudied, with no dedicated clinical guidelines to inform their management. Methods An international online survey comprised38 questions addressing orofacial manifestations of SSc, including patients’ confidence in their treating ...
Eleni Deligianni +4 more
wiley +1 more source

