• <em>DCX</em> variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature
• <em>PAFAH1B1</em> Gene Deletion-Associated Classic Lissencephaly and Infantile Spasms
• A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss
• A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia
• A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus
• A lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development
• Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery
• Altered thalamocortical tract trajectory growth with undisrupted thalamic parcellation pattern in human lissencephaly brain at mid-gestational stage
• Analysis of a child featuring global developmental delay and autism due to variant of TBR1 gene and a literature review
• Analysis of ARX gene variant in a child with X-linked lissencephaly with abnormal genitalia
• Anesthetic Management and Bispectral Index in a Child with Miller-Dieker Syndrome: A Case Report
• Automatic Quantification of Normal Brain Gyrification Patterns and Changes in Fetuses with Polymicrogyria and Lissencephaly Based on MRI
• Balint syndrome in a patient with drug-resistant epilepsy having underlying X-linked lissencephaly with subcortical band heterotopia/"double cortex" syndrome
• Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
• Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2
• Biomechanical comparison of three fixation strategies for radial head fractures: a biomechanical study
• Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation
• Brain pathology of lissencephaly type 2 with an ISPD pathogenic variant
• Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography
• Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
• Case report: Genotype and phenotype of <em>DYNC1H1</em>-related malformations of cortical development: a case report and literature review
• Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy
• Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
• Clinicoradiological Profile of Incomplete Hippocampal Inversion Diagnosed on MR Neuroimaging
• Cortical malformation adjacent to a large pial arteriovenous fistula
• DCX knockout ferret reveals a neurogenic mechanism in cortical development
• De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
• De novo monoallelic Reelin missense variants act in a dominant-negative manner causing neuronal migration disorders
• De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism
• Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry
• Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
• Diagnostic work-up in malformations of cortical development
• Double Cortex Syndrome (Subcortical Band Heterotopia)
• Double inversion recovery MRI of subcortical band heterotopia and its variations
• Doublecortin reinforces microtubules to promote growth cone advance in soft environments
• DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders
• Embryology, Central Nervous System, Malformations
• Endophthalmitis Following Inadvertent Intraocular Botulinum Toxin A Injection
• Exacerbated Zika virus-induced neuropathology and microcephaly in fetuses of dengue-immune nonhuman primates
• Expanding association between BICD2 variants and brain malformations and associated lissencephaly
• Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
• Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges
• Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy
• Further characterisation of <em>ARX</em>-related disorders in females due to inherited or de novo variants
• Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature
• Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case
• Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene
• Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene
• Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
• Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria
• Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome
• ILAE neuroimaging task force highlight: Subcortical laminar heterotopia
• Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection
• Leveraging multiple approaches for detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: a case report
• Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
• Lis1 relieves cytoplasmic dynein-1 autoinhibition by acting as a molecular wedge
• LIS1 RNA-binding orchestrates the mechanosensitive properties of embryonic stem cells in AGO2-dependent and independent ways
• Lissencephaly
• Lissencephaly and Advanced-Stage Congenital Cytomegalovirus Infection in a Neonate
• Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review
• Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation
• Lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development
• Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood
• Loss of Twist1 and balanced retinoic acid signaling from the meninges causes cortical folding in mice
• Microtubule-binding-induced allostery triggers LIS1 dissociation from dynein prior to cargo transport
• MiR-582 Down-Regulates Lissencephaly-1 (<em>LIS1</em>) via P-Akt and MMP-2 to Inhibit Cholangiocarcinoma Cell Proliferation and Invasion
• MiR-582 Down-Regulates Lissencephaly-1 (LIS1) via P-Akt and MMP-2 to Inhibit Cholangiocarcinoma Cell Proliferation and Invasion
• Molecular mechanism of dynein-dynactin complex assembly by LIS1
• Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis
• Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly
• Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event
• Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy
• Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
• Novel loss of function mutation in <em>TUBA1A</em> gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia
• NUDC is critical for rod photoreceptor function, maintenance, and survival
• NUDC is critical for rod photoreceptor function, maintenance, and survival
• Optic nerve hypoplasia and bilateral persistent fetal vasculature due to TUBA1A tubulinopathy
• PACS2 pathogenic variant associated with malformation of cortical development and epilepsy
• PAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY
• PAFAH1B1 Gene Deletion-Associated Classic Lissencephaly and Infantile Spasms
• Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia
• PRDM16 co-operates with LHX2 to shape the human brain
• PRDM16 co-operates with LHX2 to shape the human brain
• Prenatal diagnosis for a fetus with Walker-Warburg syndrome
• Prenatal diagnosis of microcephaly with simplified gyral pattern: series of 8 cases
• Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases
• Pyloric Stenosis in a Patient with CEDNIK Syndrome
• Reply to: "Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLAN: The "Double Cortex Sign""
• Role of Physiotherapy in Pediatric Lissencephaly: A Case Report and Therapeutic Insights
• Schizencephaly diagnosed after an episode of seizure during labor: A case report
• 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
• Subcortical band heterotopia disrupting white matter tracts
• Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease
• The Control of Cortical Folding: Multiple Mechanisms, Multiple Models
• The people behind the papers - Matt Matrongolo and Max Tischfield
• The people behind the papers - Meng-Han Tsai, Wan-Cian Lin and Jin-Wu Tsai
• Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome
• X-linked neuronal migration disorders: Gender differences and insights for genetic screening
• YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse