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Total 442 results found since Jan 2013.
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
Novel COL4A2 mutation causing familial malformations of cortical development.
CONCLUSIONS: The phenotypic spectrum associated with COL4A2 mutations has not been extensively described in the literature. Testing for COL4A mutations is indicated in patients with malformations of cortical development, particularly in the presence of familial conditions, even in the absence of porencephaly or early hemorrhagic strokes.
PMID: 33577044 [PubMed - as supplied by publisher]
Source: European Review for Medical and Pharmacological Sciences - February 14, 2021 Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
292 Prenatal diagnosis of tubulinopathies
Tubulinopathies are caused by genetic variants resulting in defective neuronal migration and cortical malformations. Historically, they were diagnosed on MRI with findings including, but not limited to, lissencephalies, polymicrogyria-like cortical dysplasia, and hypoplasia/ dysplasia of the brainstem and cerebellum. With improvements in imaging, prenatal suspicion of a tubulinopathy is now possible and can be confirmed by identifying pathogenic variants in one of six genes TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB5, TUBG1, or biallelic pathogenic variants in TUBA8.
Source: American Journal of Obstetrics and Gynecology - February 1, 2021 Category: OBGYN Authors: Marisa Gilstrop Thompson, Jessica L. Giordano, Andreas Dufke, Beatrix Wong, Samantha Stover, Billie R. Lianoglou, Ignatia B. Van den Veyver, Mary E. Norton, Ronald J. Wapner, Angie C. Jelin Tags: Poster Session I Source Type: research
Focal polymicrogyria in children: Contribution of invasive explorations and epileptogenicity mapping in the surgical decision
Publication date: Available online 27 January 2021Source: SeizureAuthor(s): Claudine Sculier, Delphine Taussig, Olivier David, Jerry Blustajn, Leila Ayoubian, Julie Bonheur, Christine Bulteau, Mathilde Chipaux, Nathalie Dorison, Emmanuel Raffo, Sarah Ferrand-Sorbets, Georg Dorfmüller, Martine Fohlen
Source: Seizure - January 28, 2021 Category: Neurology Source Type: research
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials.
CONCLUSION: This study confirms the main known clinical features that defines MCAP syndrome. Taking into account the phenotypic heterogeneity in MCAP patients, in the context of emerging clinical trials, we suggest that patients should be evaluated based on the main neurocognitive expression on each patient. This article is protected by copyright. All rights reserved.
PMID: 33415748 [PubMed - as supplied by publisher]
Source: Clinical Genetics - January 7, 2021 Category: Genetics & Stem Cells Authors: Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Khau Van Kien P, Chiaverini C, Giuliano F, Ales Tags: Clin Genet Source Type: research
