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
An Efficient Anomalous Sound Detection System for Microcontrollers
SensorsAnomalous Sound Detection (ASD) systems are pivotal in the Industrial Internet of Things (IIoT). Through the early detection of machines’ anomalies, these systems facilitate proactive maintenance, thereby mitigating potential losses.
Yi-Cheng Lo +3 more
doaj +1 more source
Perturbation of deep autoencoder weights for model compression and classification of tabular data. [PDF]
Neural Netw, 2022 Abrar S, Samad MD.
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp +4 more
wiley +1 more source
DRF-DRC: dynamic receptive field and dense residual connections for model compression. [PDF]
Cogn Neurodyn, 2023 Wang W, Zhang Y, Zhu L.
europepmc +1 more source
Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy +11 more
wiley +1 more source
Population Risk Improvement with Model Compression: An Information-Theoretic Approach. [PDF]
Entropy (Basel), 2021 Bu Y, Gao W, Zou S, Veeravalli VV.
europepmc +1 more source
Data compression using correlations and stochastic processes in the ALICE Time Projection chamber
, 2003 In this paper lossless and a quasi lossless algorithms for the online compression of the data generated by the Time Projection Chamber (TPC) detector of the ALICE experiment at CERN are described.
Ivanov, M. +2 more
core
A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento +3 more
wiley +1 more source