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Tuberous Sclerosis: Autosomal dominant neurocutaneous syndrome classically characterized by Mental retardation; Epilepsy; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and Hamartomas formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci Tsc1 and Tsc2 that encode hamartin and tuberin, respectively, are associated with the disease.

Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy

1Fetal-Neonatal Neuroimaging and Developmental Science Center, Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 2Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, 3Division of Epilepsy Surgery, Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, 4Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School

JoVE 54883


 Medicine

Isolation of Primary Mouse Hepatocytes for Nascent Protein Synthesis Analysis by Non-Radioactive L-Azidohomoalanine Labeling Method

1Department of Pharmacology and Systems Physiology, College of Medicine, University of Cincinnati, 2Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3Division of Developmental Biology, Cincinnati Children's Hospital Medical Center

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JoVE 58323


 JoVE In-Press

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