AIMC Topic: Genetic Diseases, X-Linked

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Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data.

Scientific reports Jun 9, 2024
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment. We performed wearable sensor-based...
Humans Machine Learning Female Adult Male Middle Aged Severity of Illness Index Wearable Electronic Devices Gait Parkinsonian Disorders Dystonic Disorders Genetic Diseases, X-Linked
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Predicting brain structural network using functional connectivity.

Medical image analysis Apr 22, 2022
Uncovering the non-trivial brain structure-function relationship is fundamentally important for revealing organizational principles of human brain. However, it is challenging to infer a reliable relationship between individual brain structure and fun...
Humans Neural Networks, Computer Brain Magnetic Resonance Imaging Neuroimaging Connectome Genetic Diseases, X-Linked Eye Diseases, Hereditary
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Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

Journal of biochemistry Jan 1, 2019
We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using gas...
Humans Machine Learning Algorithms Phenotype Female Infant, Newborn Young Adult Adult Male Infant Case-Control Studies Adolescent Child, Preschool Child Diagnosis, Differential Fatty Acids Gas Chromatography-Mass Spectrometry Genetic Diseases, X-Linked Peroxisomal Disorders Phytanic Acid
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