SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
MathematicsIn this study, we investigate the application of the direct sampling method (DSM) to identify small dielectric objects in a limited-aperture inverse scattering problem.
Won-Kwang Park
doaj +1 more source
Determination of silica aerogels nanostructure characteristics by using small angle neutron scattering technique [PDF]
, 2006 Small angle neutron scattering (SANS) technique has been widely employed in probing the microstructure of amorphous materials in the nanometer range (1 to 100 nm).
Tan, Chier Fang
core
Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster +11 more
wiley +1 more source
Fast multi-dimensional scattered data approximation with Neumann boundary conditions
, 2003 An important problem in applications is the approximation of a function $f$ from a finite set of randomly scattered data $f(x_j)$. A common and powerful approach is to construct a trigonometric least squares approximation based on the set of exponentials
Grishin, Denis, Strohmer, Thomas
core
Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen +18 more
wiley +1 more source
Photometric Properties of Network and Faculae Derived from HMI Data Compensated for Scattered Light [PDF]
, 2017 S. Criscuoli +2 more
openalex +1 more source
Higher Amyloid and Tau Burden Is Associated With Faster Decline on a Digital Cognitive Test
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective A 2‐min digital clock‐drawing test (DCTclock) captures more granular features of the clock‐drawing process than the pencil‐and‐paper clock‐drawing test, revealing more subtle deficits at the preclinical stage of Alzheimer's disease (AD). A previous cross‐sectional study demonstrated that worse DCTclock performance was associated with
Jessie Fanglu Fu +16 more
wiley +1 more source
Hermite-Birkhoff interpolation on scattered data on the sphere and other\n manifolds [PDF]
, 2017 Giampietro Allasia +2 more
openalex +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source