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Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12617
Abstract: Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology. Treatment options are limited and non‐curative as the underlying causative molecular mechanisms remain unknown. While… read more here.
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Published in 2018 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2018.09.014
Abstract: OBJECTIVE To describe the fasciculation pattern in ALS and to analyse its clinical and pathophysiological significance. METHODS Ultrasound of 19 muscles was performed in 44 patients with a recent diagnosis ( read more here.
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Published in 2018 at "Gastroenterology"
DOI: 10.1053/j.gastro.2017.09.046
Abstract: Although researchers have identified genetic alterations that contribute to development of esophageal adenocarcinoma, we know little about features of patients or environmental factors that mediate progression of chronic acid biliary reflux to Barrett's esophagus and… read more here.
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Published in 2018 at "Current Opinion in Infectious Diseases"
DOI: 10.1097/qco.0000000000000420
Abstract: Purpose of review Despite great progress in decoding disease mechanisms, rabies remains one of the leading causes of human death worldwide. Towards the elimination of human rabies deaths by 2030, feasible and affordable post (PEP)… read more here.
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Published in 2020 at "Neurology"
DOI: 10.1212/01.wnl.0000720020.86134.9d
Abstract: OBJECTIVE To review a rare presentation of Transient Global Amnesia (TGA) in context of concussion with reversible imaging findings. BACKGROUND TGA is characterized by sudden temporary loss of anterograde memory accompanied by repetitive questioning without… read more here.
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Published in 2020 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2020.627887
Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder belonging to the group of vacuolating leukodystrophies. It is characterized by megalencephaly, loss of motor functions, epilepsy, and mild mental decline. In brain biopsies… read more here.
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Published in 2022 at "Life"
DOI: 10.3390/life12111914
Abstract: Osteoarthritis (OA) is one of the most prevalent degenerative joint diseases in older adults and a leading cause of disability. Recent research studies have evidenced the importance of mi-croRNAs (miRs) in the pathogenesis of OA.… read more here.
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Published in 2022 at "Pathogens"
DOI: 10.3390/pathogens12010066
Abstract: Apple scab, caused by Venturia inaequalis, is one of the world’s most commercially significant apple diseases. The fungi have a catastrophic impact on apples, causing considerable losses in fruit quality and productivity in many apple-growing… read more here.