|2.||Malformations of Cortical Development
|3.||Tuberous Sclerosis (Bourneville's Disease)
|4.||Congenital Abnormalities (Deformity)
|5.||Spinal Muscular Atrophy (Progressive Muscular Atrophy)
|1.||Wynshaw-Boris, Anthony: 10 articles (03/2013 - 06/2003)|
|2.||Hirotsune, Shinji: 8 articles (01/2013 - 08/2003)|
|3.||Chelly, Jamel: 8 articles (12/2012 - 03/2004)|
|4.||Poirier, Karine: 5 articles (12/2012 - 03/2004)|
|5.||Dobyns, William B: 4 articles (09/2015 - 02/2004)|
|6.||Guerrini, Renzo: 4 articles (08/2014 - 02/2004)|
|7.||Yamada, Masami: 4 articles (01/2013 - 10/2009)|
|8.||Mori, Daisuke: 4 articles (02/2010 - 09/2005)|
|9.||Keays, David A: 3 articles (10/2015 - 01/2007)|
|10.||Kato, Mitsuhiro: 3 articles (02/2014 - 02/2004)|
|1.||DNA (Deoxyribonucleic Acid)IBA
11/01/1993 - "Appropriate studies include computed tomography or magnetic resonance imaging (sometimes both), chromosome analysis, DNA analysis of the lissencephaly region on chromosome 17, electroencephalography and sometimes metabolic studies."
08/01/1993 - "Molecular studies, performed by means of in situ hybridization and DNA probe analysis, did not demonstrate deletion in the Miller-Dieker/isolated Lissencephaly critical region on the short arm of chromosome 17."
06/01/2008 - "We initially performed DNA sequencing in 45 patients with isolated lissencephaly with a p>a gradient, in whom FISH had revealed normal results. "
08/01/1991 - "The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. "
11/01/1994 - "Four patients (congenital CMV encephalopathy with West's syndrome, acute encephalitis, chronic epileptic encephalopathy, and lissencephaly) had CMV DNA in their cerebrospinal fluid. "
02/03/2003 - "LIS1, the product of a causal gene for human lissencephaly (smooth brain), has also been implicated in dynein function based on studies in fungi and more recent studies in higher eukaryotic systems (for review see Gupta et al., 2002). "
12/01/2012 - "Coimmunoprecipitation and overlapping localization patterns of ASUN and lissencephaly 1 (LIS1), a dynein adaptor, suggest that ASUN interacts with dynein in the cytoplasm via LIS1. "
08/31/2012 - "The lissencephaly protein Lis1 has been reported to regulate the mechanical behavior of cytoplasmic dynein, the primary minus-end-directed microtubule motor. "
06/25/2012 - "For example, lissencephaly is caused by mutations in the dynein-associated protein Lis1. "
01/07/2011 - "The nuclear distribution protein E (NudE) and nuclear distribution protein E-like (Nudel or Ndel1) interact with both lissencephaly 1 (Lis1) and dynein. "
|3.||Platelet Activating FactorIBA
12/01/1997 - "Previous studies have shown that LIS1, the defective gene found in patients with lissencephaly, is a subunit of the platelet-activating factor acetylhydrolase. "
01/01/2006 - "In order to test the hypothesis that these features may be related with genes that regulate neuronal migration, we analyzed two genomic regions: the lissencephaly critical region (chromosome 17p) encompassing the LIS1 gene and which is involved in human lissencephaly; and the genes related to the platelet-activating-factor, functionally related to LIS1, in 52 schizophrenic patients, 36 bipolar I patients and 65 normal control subjects. "
05/01/2001 - "Furthermore, abnormal prenatal platelet activating factor (PAF) signalling may result in lissencephaly, a disorder of neuronal migration. "
04/15/2006 - "In cell and animal models, C-terminus-truncated DISC1 disrupts intracellular transport, neural architecture and migration, perhaps because it fails to interact with binding partners involved in neuronal differentiation such as fasciculation and elongation protein zeta-1 (FEZ1), platelet-activating factor acetylhydrolase, isoform Ib, PAFAH1B1 or lissencephaly 1 protein (LIS1) and nuclear distribution element-like (NUDEL). "
08/01/1998 - "Heterozygous mutation or deletion of the beta subunit of platelet-activating factor acetylhydrolase (PAFAH1B1, also known as LIS1) in humans is associated with type I lissencephaly, a severe developmental brain disorder thought to result from abnormal neuronal migration. "
09/16/2015 - "Studies of human brain malformations, such as lissencephaly and double cortex, have revealed the importance of neuronal migration during cortical development. "
07/01/2000 - "Disruptions in neuronal migration have been postulated as the basis for many cerebral malformations including lissencephaly, cortical heterotopia, and double cortex. "
09/01/1998 - "lissencephaly, double cortex)."
01/01/2003 - "Mutations in the X-linked gene doublecortex (DCX) result in lissencephaly in males or subcortical laminar heterotopia (double cortex) in females. "
07/01/2000 - "Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. "
|5.||Technetium Tc 99m Exametazime (Ceretec)FDA Link
01/01/1991 - "Infantile spasm induced by hemispheric pachygyria ultrasound, MRIand Tc-99m HMPAO SPECT."
03/01/1997 - "Cerebral perfusion was investigated in three patients with agyria-pachygyria by using 99mTc-HMPAO SPECT in order to study the distribution of blood flow. "
03/01/1997 - "Agyria-pachygyria: cerebral perfusion studies by 99mTc-HMPAO SPECT [corrected]."
02/01/1997 - "We found that the pattern of collagen subtypes I, III and VI was not altered in type II lissencephaly brains when compared to normal controls. "
11/01/2015 - "The most severe form of dysplastic changes was characterized by marked irregularity of the cerebellar cortex similar to that in lissencephaly type II. Thus, prenatal vitamin C deficiency represents a novel animal model to study the effects of collagen synthesis on development of breaches in the pial basement membrane, disordered migration of neurons, dysplasia of cerebellar cortex, and the pathogenesis of lissencephaly. "
|7.||Diethylhexyl Phthalate (DEHP)IBA
12/01/2006 - "These studies show DEHP to be a highly effective human gene expression-altering chemical, and that, at appropriate concentrations, it has the possibility of altering fetal central nervous system development, resulting in the birth defects lissencephaly and/or faciodigitogenital dysplasia."
02/01/2014 - "Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). "
03/01/2008 - "A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB."
01/12/2007 - "Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans."
03/01/2015 - "In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips schizencephaly as likely consequences of an altered neuronal migration process; abnormalities or agenesis of the midline commissural structures (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, dysmorphisms of the hind-brain as expression of axon guidance disorders. "
02/01/2013 - "During the past few years, mutations in a number of neuron-specific α- and β-tubulin genes have been identified in both lissencephaly and polymicrogyria, usually associated with additional cerebral anomalies including callosal hypoplasia or agenesis, abnormal basal ganglia and cerebellar hypoplasia. "
03/01/2012 - "Peripheral retinal nonperfusion associated with optic nerve hypoplasia and lissencephaly."
10/15/2003 - "WWS, MEB, FCMD and the myd mouse are also associated with neuronal migration abnormalities (often type II lissencephaly) and ocular or retinal defects. "
06/01/2003 - "Retinal and anterior segment abnormalities were observed only in cobblestone (type 2) lissencephaly. "
02/01/1989 - "Four abnormalities were present in all patients checked for these anomalies: type II lissencephaly (21/21), cerebellar malformation (20/20), retinal malformation (18/18), and CMD (14/14). "
03/01/2014 - "The diagnosis is established by the presence of four criteria: congenital muscular dystrophy, type II lissencephaly, cerebellar malformation, and retinal malformation. "
07/01/2010 - "Septal agenesis and lissencephaly with colpocephaly presenting as the 'Crown Sign'."
03/01/2010 - "Magnetic resonance imaging of the brain showed lissencephaly and colpocephaly. "
07/01/2004 - "Magnetic resonance imaging was performed postnatally and showed pachygyria, colpocephaly and agenesis of the corpus callosum. "
05/01/1993 - "Magnetic resonance imaging demonstrated agenesis of the corpus callosum, absence of the septum pellucidum, optic nerve and chiasmal hypoplasia, pachygyria, cortical heterotopias, colpocephaly, and hypoplasia of the cerebellar vermis. "
01/01/1982 - "Their anomaly is characterized by very low brain weight, lissencephaly, wide ventricles and thin neopallium (colpocephaly) varying in thickness between 0.2 and 3 mm. The neocortex is four layered as in classic lissencephaly. "