Results 41 to 50 of about 7,462 (203)

Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε)

Brain Sciences, 2021
The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller–Dieker syndrome (MDS) and 17p13.3 duplication syndrome.
Xiaonan Liu, Sarah A. Bennison, Lozen Robinson, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

CNV and nervous system diseases - what's new? [PDF]

, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +1 more source

Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene

, 2021
BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by neonatal diabetes mellitus (NDM), epiphyseal dysplasia, and hepatic and renal dysfunction.
Reddy, C., Dayal, D., Kumar, R., Gupta, A., Yadav, J., Saini, L., Houghton, J., Ellard, S.   +7 more
core   +1 more source

Mutations in ARX result in several defects involving GABAergic neurons

, 2010
Genetic investigations of X-linked mental retardation have demonstrated the implication of ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild or moderate forms of mental ...
Friocourt, G., Gaelle Friocourt, John G Parnavelas, Parnavelas, J.G.   +3 more
core   +1 more source

Nonprimary Cytomegalovirus Fetal Infection [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2016
Cytomegalovirus (CMV) is the most common congenital viral infection, causing hearing, visual and psychomotor impairment. Preexisting maternal CMV immunity substantially reduces, but not eliminates, the risk of fetal infection and affectation.
Sofia Rodrigues, Daniela Gonçalves, Ricardo Taipa, Maria do Céu Rodrigues   +3 more
doaj   +1 more source

Structures of human dynein in complex with the lissencephaly 1 protein, LIS1

eLife, 2023
The lissencephaly 1 protein, LIS1, is mutated in type-1 lissencephaly and is a key regulator of cytoplasmic dynein-1. At a molecular level, current models propose that LIS1 activates dynein by relieving its autoinhibited form.
Janice M Reimer, Morgan E DeSantis, Samara L Reck-Peterson, Andres E Leschziner   +3 more
doaj   +1 more source

Characterizingwhite matter tract organization in polymicrogyria and lissencephaly: A multifiber diffusion mri modeling and tractography study [PDF]

, 2020
BACKGROUND AND PURPOSE: Polymicrogyria and lissencephaly may be associated with abnormal organization of the undelying white matter tracts that have been rarely investigated so far.
Borgatti R., Leventer R., Seal M., Yang J. Y. -M., Peruzzo D., Arrigoni F., Mandelstam S., Amorosino G., Redaelli D., Romaniello R.   +9 more
core   +2 more sources

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias

Frontiers in Neuroscience, 2015
Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere
Mitsuhiro eKato, Mitsuhiro eKato
doaj   +1 more source

Lissencephaly-A Brain Flawed

, 2016
We present a case report of a twelve-day old child suffering from seizures, in which magnetic resonance imaging (MRI) established the diagnosis of Lissencephaly.
Gupta, Saryu, Mathur, Manoj
core   +1 more source

Neuroimaging in lissencephaly type I

, 1991
The CT scan's of 22 patients with lissencephaly type I, a severe developmental disorder of the cerebral cortex, were studied. In 6 patients a magnetic resonance (MR), scan was also performed.
de Rijk-van Andel, J. F., Arts, W. F.M., Valk, J., van der Knaap, M. S.   +3 more
core   +1 more source