• A case of Miller-Dieker syndrome in a family with neurofibromatosis type I
• A case of Walker-Warburg syndrome
• A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation
• A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM
• A case study on Walker-Warburg syndrome
• A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration
• A novel pattern of oculocerebral malformation
• A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation
• A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation
• Altered morphological and electrophysiological properties of Cajal-Retzius cells in cerebral cortex of embryonic Presenilin-1 knockout mice
• Altered spatial distribution of PV-cortical cells and dysmorphic neurons in the somatosensory cortex of BCNU-treated rat model of cortical dysplasia
• An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in Wnt Signaling Contributing to Miller-Dieker Syndrome
• Analysis and classification of cerebellar malformations
• Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
• Birth outcomes following West Nile Virus infection of pregnant women in the United States: 2003-2004
• Cell migration and cerebral cortical development
• Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy
• Challenges of diagnostic exome sequencing in an inbred founder population
• Classical (type I) lissencephaly and Miller-Dieker syndrome
• Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome
• Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
• Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
• Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report
• De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria
• Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families
• Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations
• Disturbances in the positioning, proliferation and apoptosis of neural progenitors contribute to subcortical band heterotopia formation
• EEG in diagnosis of other disease pictures than epilepsy
• Efficacy of the ketogenic diet: which epilepsies respond?
• Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly
• Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly
• Endoscopic-Assisted (Through a Mini Craniotomy) Corpus Callosotomy Combined With Anterior, Hippocampal, and Posterior Commissurotomy in Lennox-Gastaut Syndrome: A Pilot Study to Establish Its Safety and Efficacy
• Ependymal abnormalities in lissencephaly/pachygyria
• Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin
• Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin
• Expression of genes related to muscular dystrophy with lissencephaly
• Expression of glutamate transporter subtypes during normal human corticogenesis and type II lissencephaly
• Expression of the LIS-1 gene product in brain anomalies with a migration disorder
• Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis
• Fukutin and alpha-dystroglycanopathies
• Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients
• Genetic and clinical aspects of lissencephaly
• Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain
• Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins
• Glyc-O-genetics of Walker-Warburg syndrome
• Hind brain agenesis a rare imaging findings in cerebro cerebellar lissencephalic syndrome
• Ictal/interictal EEG patterns and functional neuroimaging findings in subcortical band heterotopia: report of three cases and review of the literature
• Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection
• Inhibitory inputs to hippocampal interneurons are reorganized in Lis1 mutant mice
• Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies
• Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity
• Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
• Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: type III lissencephaly syndrome
• LIS1 deficiency promotes dysfunctional synaptic integration of granule cells generated in the developing and adult dentate gyrus
• LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs
• LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity
• Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more
• Lissencephaly and the molecular basis of neuronal migration
• Lissencephaly type I
• Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome
• Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene
• Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities
• Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy
• Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain
• Management of general anesthesia in a child with Miller-Dieker syndrome: a case report
• Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
• Miller--Dieker syndrome, type 1 lissencephaly
• Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3
• Miller-Dieker syndrome: a new case with cerebral echographic study
• Missense mutations resulting in type 1 lissencephaly
• Molecular basis and diagnosis of neurogenetic disorders
• Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
• Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human
• Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
• Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression
• Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
• Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III
• Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
• Neuropathology of lissencephalies
• Neurosurgical Embryology. Part 2: Recent data on normal and pathological development of the cortex
• Non-pharmacological treatment options of drug-resistant epilepsy in subcortical band heterotopia: systematic review and illustrative case
• Norman-Roberts syndrome: clinical and molecular studies
• Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
• Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
• Perampanel in lissencephaly-associated epilepsy
• Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions
• Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <em>CEP85L</em> Gene: A Case Report and Refining of the Phenotypic Spectrum
• Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
• Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic
• Quadruple Semitendinosus Graft Construct With Double Cortical Suspensory Fixation for Anterior Cruciate Ligament Reconstruction: A Biomechanical Study
• Report of two Turkish infants with Norman-Roberts syndrome
• Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
• Seizures, enhanced excitation, and increased vesicle number in Lis1 mutant mice
• Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene
• Structures of human dynein in complex with the lissencephaly 1 protein, LIS1
• Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly
• Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles
• The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2
• The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
• Walker-Warburg syndrome