To discover new treatments for genetic disorders, scientists need a thorough knowledge of prior literature to determine the best gene/protein targets and the most promising drugs to test. However, biomedical literature is ...
Oct 3, 2023
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A recent study published in Nature Metabolism has revealed the pathogenic mechanism underlying a rare pediatric neurodegenerative disorder known as mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) ...
Aug 31, 2023
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Developmental and epileptic encephalopathy (DEE) refers to a group of neurodevelopmental conditions characterized by developmental delay, cognitive impairment, and seizures in children. In 2016, the first case linking variants ...
Aug 29, 2023
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A study led by Dr. Hyun Kyoung Lee, associate professor at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, has discovered a new biological ...
Aug 24, 2023
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Recurrent seizures are debilitating and can sometimes be fatal. The onset and presentation of seizures vary significantly among epilepsy patients. Of more than 25 categories of seizure presentations within epilepsy, those ...
Aug 2, 2023
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Neuronal Ceroid Lipofuscinosis are a group of devastating neurodegenerative lysosomal storage disorders that begin in childhood. Mutations in CLN3 gene lead to a NCL called Batten disease, characterized by the progressive ...
Jul 6, 2023
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A recent study published in Science Advances by researchers at Baylor College of Medicine and Texas Children's Hospital has discovered six distinct neuronal lineages in the pons region of the brainstem and revealed new insights ...
Jul 3, 2023
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A recent study by researchers at Texas Children's Hospital, Baylor College of Medicine, and Scripps Research Institute has discovered fluorescent dye FM 1-43 as an effective and versatile tool to visualize PIEZO2 ion channel ...
Jun 14, 2023
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Alzheimer's disease (AD) is a complex neurodegenerative illness with genetic and environmental origins. Females experience faster cognitive decline and cerebral atrophy than males, while males have greater mortality rates. ...
May 20, 2023
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The cerebellum, a major part of the hindbrain in all vertebrates, is important for motor coordination, language acquisition, and regulating social and emotional behaviors. A study led by Dr. Roy Sillitoe, professor of Pathology ...
May 15, 2023
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