Disease: Pachygyria
- <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 biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly
- 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 likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome
- 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
- 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
- Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <em>ASPM</em> and <em>WDR62</em> Genes
- 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
- Clinicoradiological Profile of Incomplete Hippocampal Inversion Diagnosed on MR Neuroimaging
- Cortical malformation adjacent to a large pial arteriovenous fistula
- De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
- 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 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
- Early suppression of excitability in subcortical band heterotopia modifies epileptogenesis in rats
- 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
- Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
- 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
- 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
- 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
- Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development
- 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 With Cerebellar Hypoplasia Due To a New RELN Mutation
- Lissencephaly with Congenital Hypothyroidism: A Case Report
- Lissencephaly-1 mutations enhance traumatic brain injury outcomes in Drosophila
- Lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development
- Loss of Twist1 and balanced retinoic acid signaling from the meninges causes cortical folding in mice
- Malformation of the Cortical Development Associated with Severe Clusters of Epileptic Seizures
- MAPping tubulin mutations
- 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
- Missed diagnosis of lissencephaly after prenatal diagnosis: A case report
- Modeling congenital brain malformations with brain organoids: a narrative review
- Molecular mechanism of dynein-dynactin complex assembly by LIS1
- Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis
- Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event
- 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
- 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
- Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies
- Prenatal genetic analysis of a fetus with Miller-Dieker syndrome
- RanBP9 controls the oligomeric state of CTLH complex assemblies
- Reply to: "Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLAN: The "Double Cortex Sign""
- Role of intracortical neuropil growth in the gyrification of the primate cerebral cortex
- 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
- Structures of human dynein in complex with the lissencephaly 1 protein, LIS1
- Subcortical band heterotopia disrupting white matter tracts
- Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease
- Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLA2G6-associated Neurodegeneration: The "Double Cortex Sign"
- 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
- 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