Results 91 to 100 of about 527,994 (266)
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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen +7 more
wiley +1 more source
Management of Open Calcaneal Fractures with Medial Wounds by One-Stage Sequential Reduction and Frame Structure Fixation Using Percutaneous Kirschner Wires. [PDF]
Orthop Surg, 2021 Gao X +5 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
BuildingsThis paper examines the construction of the National Goods Bank in Nanjing as a case study to investigate the localization of modern architecture in China during the 1930s. Set against the backdrop of Nanjing’s capital construction period (1927–1937), it
Qiaochu Jiang, Yinghan Li, Qi Zhou
doaj +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
Performance analysis of NSA control plane and user plane delay in 5G network
Dianxin kexue, 2020 Different from 2G/3G/4G,the 5G network architecture contains two parts:NSA (non-standalone) and SA (standalone) networking.NSA can help network deploys faster.Low latency is a very important feature of 5G,and its implementation requires a combination of ...
Dan ZHANG +3 more
doaj
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
MachinesThe profile modular system offers variability, flexibility, ease of assembly, and corrosion resistance as well as non-time-consuming assembly while meeting the required conditions of the customer. It has a broad spectrum of usability.
Lenka Jakubovičová +2 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source