• 17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization
• A case of isolated pachygyria with unusual clinical onset in the neonatal period
• A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection
• A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly
• A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism
• Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy
• Ambiguous Genitalia and Lissencephaly in A 46,XY Neonate with a Novel Variant of Aristaless Gene
• An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene
• Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly
• Apparently isolated borderline ventriculomegaly and lissencephaly
• Armadillo Repeat Containing 8alpha Binds to HRS and Promotes HRS Interaction with Ubiquitinated Proteins
• Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons
• ARX spectrum disorders: making inroads into the molecular pathology
• Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX
• B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies
• Birth outcomes following West Nile Virus infection of pregnant women in the United States: 2003-2004
• Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
• Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita
• Case Report: Multiorgan Involvement with Congenital Zika Syndrome
• Challenges of diagnostic exome sequencing in an inbred founder population
• Characterization of inhibitory circuits in the malformed hippocampus of Lis1 mutant mice
• Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence
• Clinical and epidemiological aspects of microcephaly in the state of Piauí, northeastern Brazil, 2015-2016
• Clinical and MRI findings of lissencephaly in a mixed breed dog
• CNV and nervous system diseases--what's new?
• Congenital Zika Virus Infection: Beyond Neonatal Microcephaly
• Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure
• Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy
• Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence
• Dictyostelium LIS1 is a centrosomal protein required for microtubule/cell cortex interactions, nucleus/centrosome linkage, and actin dynamics
• Differential effects of the dynein-regulatory factor Lissencephaly-1 on processive dynein-dynactin motility
• Doublecortin Mutation in an Adolescent Male
• Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern
• Essential roles for the FE65 amyloid precursor protein-interacting proteins in brain development
• Evidence for association between structural variants in lissencephaly-related genes and executive deficits in schizophrenia or bipolar patients from a Spanish isolate population
• Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis
• Fetal Central Nervous System Anomalies Detected by Magnetic Resonance Imaging: A Two-Year Experience
• Fukutin mutations in Fukuyama congenital muscular dystrophy do not cause noncompaction
• Further characterisation of <em>ARX</em>-related disorders in females due to inherited or de novo variants
• Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients
• Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
• Generation of FLAG-tagged Arx knock-in mouse model
• Genetic and clinical aspects of lissencephaly
• Genetic malformations of cortical development
• Genetic malformations of the cerebral cortex and epilepsy
• Genomic copy number variations at 17p13.3 and epileptogenesis
• Glycosylation in congenital muscular dystrophies
• Heterotopia associated with hippocampal sclerosis: an under-recognized cause of early onset epilepsy in children operated on for temporal lobe epilepsy
• High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis
• Human Brain Abnormalities Associated With Prenatal Alcohol Exposure and Fetal Alcohol Spectrum Disorder
• Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems
• Impaired proliferation and migration in human Miller-Dieker neural precursors
• Increased LIS1 expression affects human and mouse brain development
• Inhibition of PP2A by LIS1 increases HIV-1 gene expression
• Initial Description of the Presumed Congenital Zika Syndrome
• Intersectin 1 is a component of the Reelin pathway to regulate neuronal migration and synaptic plasticity in the hippocampus
• Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
• Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity
• LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity
• Lissencephaly
• Lissencephaly
• Lissencephaly in Shih Tzu dogs
• Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat
• Lissencephaly-1 is a context-dependent regulator of the human dynein complex
• Location and type of mutation in the LIS1 gene do not predict phenotypic severity
• Macro- and microscopic systematization of cerebral cortex malformations in children
• Malformations of cortical development (MCDs) and epilepsy: experience from a tertiary care center in south India
• Malformations of Cortical Development: From Postnatal to Fetal Imaging
• Miller-Fisher syndrome in association with enterovirus infection
• Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis
• Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
• Ndel1 controls the dynein-mediated transport of vimentin during neurite outgrowth
• Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
• Neuroimaging findings of congenital Zika virus infection: a pictorial essay
• Neuronal migration disorders
• Neuronal migration disorders, genetics, and epileptogenesis
• New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum
• Obstetric and neonatal outcomes in apparently isolated mild fetal ventriculomegaly
• Preferential Association of Lissencephaly-1 Gene Expression with CD133+ Glioblastoma Cells
• Prenatal diagnosis of lissencephaly: a case report
• Prenatal diagnosis of microcephaly with simplified gyral pattern: series of 8 cases
• Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases
• Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results
• Prenatal muscle development in a mouse model for the secondary dystroglycanopathies
• Proteasome-dependent degradation of alpha-catenin is regulated by interaction with ARMc8alpha
• RELN Mutations in Autism Spectrum Disorder
• Role of cerebral ultrasound and magnetic resonance imaging in newborns with congenital cytomegalovirus infection
• Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study
• RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans
• Septal agenesis and lissencephaly with colpocephaly presenting as the 'Crown Sign'
• Similar return to sport between double cortical button and docking techniques for ulnar collateral ligament reconstruction in baseball players
• Sonographic Cortical Development and Anomalies in the Fetus: A Systematic Review and Meta-Analysis
• Sonographic findings in an isolated widened fetal subarachnoid space
• Strain-Dependent Consequences of Zika Virus Infection and Differential Impact on Neural Development
• Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
• The structure of the coiled-coil domain of Ndel1 and the basis of its interaction with Lis1, the causal protein of Miller-Dieker lissencephaly
• The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15
• TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity
• TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria
• β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia