2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
1 citations
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December 2025 in “Scientific Reports” In this study, researchers developed a predictive model for the onset of alopecia areata by analyzing six datasets to identify key feature genes and employing various machine learning algorithms, ultimately finding the XGBoost model most effective for clinical application.
26 citations
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May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
September 2025 in “Dicle Medical Journal / Dicle Tip Dergisi” In this retrospective study, researchers found that fungal infections, xerosis, eczematous dermatitis, and seborrheic dermatitis were the most common dermatological findings among patients with Parkinson's disease, Multiple Sclerosis, and Amyotrophic Lateral Sclerosis, with significant intergroup differences observed.
18 citations
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April 2024 in “Phytotherapy Research” This review examines the potential of plant-derived compounds like quercetin, curcumin, EGCG, apigenin, and cannabinoids for treating neurodegenerative disorders, while discussing their benefits and limitations, and calls for more extensive pre-clinical and clinical research.