Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre+152 more
wiley +1 more source
Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia
ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Mahboubeh Ahmadipour+6 more
wiley +1 more source
Full color visible imaging with crystalline silicon meta-optics. [PDF]
Fröch JE+12 more
europepmc +1 more source
CdTe focal plane detector for hard x-ray focusing optics [PDF]
P. Seller+10 more
openalex +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen+47 more
wiley +1 more source
Enhancement of vascular visualization in laser speckle contrast imaging based on image algorithms. [PDF]
Yan L+8 more
europepmc +1 more source
Kinoform Optics: Single‐Step 3D Nanofabrication of Kinoform Optics via Gray‐Scale Focused Ion Beam Lithography for Efficient X‐Ray Focusing (Advanced Optical Materials 6/2015) [PDF]
Kahraman Keskinbora+4 more
openalex +1 more source
Cognitive and Patient‐Reported Outcome Measures in LGI‐1‐IgG Autoimmune Encephalitis
ABSTRACT Objective Clinical outcome measures for autoimmune encephalitis (AE) are not yet well defined. Cognitive outcome measures (CogOs) and patient‐reported outcomes (PROs) may capture the symptoms of AE, beyond clinician‐reported outcomes (ClinROs) (the Modified Rankin Scale [mRS] and Clinical Assessment Scale in Autoimmune Encephalitis [CASE ...
Tatchaporn Ongphichetmetha+8 more
wiley +1 more source
Predicted Visual Impact of a Small Aperture Intraocular Lens in Reducing Higher Order Aberrations in Post-Radial Keratotomy Patients. [PDF]
van den Berg RM+4 more
europepmc +1 more source
Phase imaging using focused polycapillary optics [PDF]
Sajid Bashir+3 more
openalex +1 more source