Results 71 to 80 of about 9,751 (261)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Analyse the Effects of Partial Shading Conditions on Solar Photovoltaic Panels
International Journal for Research in Applied Science and Engineering Technology, 2021 In a solar photovoltaic array, the shadow may cover its PV cells. In partial shading conditions, the PV characteristic gets more complicated with multiple numbers of peaks. The aim of this model is to analyses the different partial shading situations and also their effects on the operation.
openaire +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Estimation and Assessment of Partial Shading Patterns in Large PV Farms Using ANN Algorithm
IEEE AccessThe use of technology to optimize electricity from photovoltaic (PV) farms is growing. Partial shading often occurs in PV farms owing to cloud movement or dust on the PV modules.
Efendi S Wirateruna +2 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller +14 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe +7 more
wiley +1 more source
An Intelligent Maximum Power Point Using a Fuzzy Log Controller under Severe Weather Conditions
International Journal of Photoenergy, 2018 This study is aimed at providing a comparison between fuzzy systems and convectional P&O for tracking MPP of a PV system. MATLAB/Simulink is used to investigate the response of both algorithms.
Khaled Bataineh
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source