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Total 442 results found since Jan 2013.

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report
ConclusionsThis case expands the knowledge ofDDX3X pathogenic variants and the associatedDDX3X syndrome phenotypic spectrum.
Source: Italian Journal of Pediatrics - March 31, 2021 Category: Pediatrics Source Type: research

Radiological and Clinical Value of 7T MRI for Evaluating 3T-Visible Lesions in Pharmacoresistant Focal Epilepsies
This study aims at accessing the radiological and clinical value of 7T in patients with pharmacoresistant focal epilepsy and 3T-visible lesions.Methods: Patients with pharmacoresistant focal epilepsy were included if they had a lesion on pre-operative standard-of-care 3T MRI and also a 7T research MRI. An epilepsy protocol was used for the acquisition of the 7T MRI. Prospective visual analysis of 7T MRI was performed by an experienced board-certified neuroradiologist and communicated to the patient management team. The clinical significance of the additional 7T findings was assessed by intracranial EEG (ICEEG) ictal onset,...
Source: Frontiers in Neurology - March 2, 2021 Category: Neurology Source Type: research

Investigation of the Mechanisms Underlying Development and Diseases of the Cerebral Cortex Using Mice and Ferrets
Yakugaku Zasshi. 2021;141(3):349-357. doi: 10.1248/yakushi.20-00198-3.ABSTRACTFolds of the cerebral cortex, which are called gyri and sulci, are one of the most prominent features of the mammalian brain. However, the mechanisms underlying the development and malformation of cortical folds are largely unknown, mainly because they are difficult to investigate in mice, whose brain do not have cortical folds. To investigate the mechanisms underlying the development and malformation of cortical folds, we developed a genetic manipulation technique for the cerebral cortex of gyrencephalic carnivore ferrets. Genes-of-interest can ...
Source: Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan - March 1, 2021 Category: Drugs & Pharmacology Authors: Hiroshi Kawasaki Source Type: research