Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Machining with a Precision Five-Axis Machine Tools Created by Combining a Horizontal Parallel Three-Axis Motion Platform and a Three-Axis Machine Tools. [PDF]
Materials (Basel), 2022 Cheng YM.
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
Discover Mechanical EngineeringIn wire arc additive manufacturing (WAAM), identifying the influence of process parameters on part properties is essential when introducing a new material or machine.
Markus Freidhofer +3 more
doaj +1 more source
A Regularized Regression Thermal Error Modeling Method for CNC Machine Tools under Different Ambient Temperatures and Spindle Speeds. [PDF]
Sensors (Basel), 2023 Wei X, Ye H, Zhou J, Pan S, Qian M.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
An Energy Data-Driven Approach for Operating Status Recognition of Machine Tools Based on Deep Learning. [PDF]
Sensors (Basel), 2022 Yan W, Lu C, Liu Y, Zhang X, Zhang H.
europepmc +1 more source
Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig +9 more
wiley +1 more source
Kinematics and geometric features of the s-cone test piece: identifying the performance of five-axis machine tools using a new test piece. [PDF]
Int J Adv Manuf Technol, 2023 Osei S, Wang W, Ding Q.
europepmc +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