Results 31 to 40 of about 7,495 (203)
Neuroimaging in lissencephaly type I [PDF]
, 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. +3 more
core +1 more source
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype
Data in Brief, 2015 Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces.
Keiko Shimojima +2 more
doaj +1 more source
MRI features of lissencephaly with cerebellar hypoplasia [PDF]
, 2004 Lissencephaly with cerebellar hypoplasia has been recently reported as different group of lissencephaly, which is not included in either classical or cobblestone types.
Üstünsöz, Bahri +4 more
core +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 +3 more
doaj +1 more source
Lissencephaly with CMV Infection: A Case Study [PDF]
, 2021 A nine months old baby boy was admitted in a pediatric ward at SGG Hospital, Vadodara diagnosed with lissencephaly associated with Cytomegalo virus (CMV) infection. Lissencephaly includes severe brain deformations. Cytomegaly infection is popularly known
Tousif Idrisi +2 more
core +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
Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography
Brain Sciences, 2023 Lissencephaly (LIS) is a rare neurodevelopmental disorder with severe symptoms caused by abnormal neuronal migration during cortical development. It is caused by both genetic and non-genetic factors.
Alpen Ortug +5 more
doaj +1 more source
Dictyostelium discoideum: A Model System for Neurological Disorders
Cells, 2022 Background: The incidence of neurological disorders is increasing due to population growth and extended life expectancy. Despite advances in the understanding of these disorders, curative strategies for treatment have not yet eventuated. In part, this is
Claire Louise Storey +3 more
doaj +1 more source
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 +3 more
doaj +1 more source
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
Clinical Case Reports, 2021 Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.
Claire Balza +10 more
doaj +1 more source