• A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration
• 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
• 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
• Analysis of ARX gene variant in a child with X-linked lissencephaly with abnormal genitalia
• Anesthesia for a child with Walker-Warburg syndrome
• Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
• Autosomal recessive type I lissencephaly
• Birth outcomes following West Nile Virus infection of pregnant women in the United States: 2003-2004
• 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
• Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
• Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report
• Congenital muscular dystrophies: 1997 update
• Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?
• Diagnostic criteria for Walker-Warburg syndrome
• Diagnostic features and clinical signs of 21 patients with lissencephaly type 1
• Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome?
• 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?
• Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly
• Endoscopic epilepsy surgery: Emergence of a new procedure
• 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 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
• Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy
• Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature
• Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients
• Genetic and clinical aspects of lissencephaly
• Glyc-O-genetics of Walker-Warburg syndrome
• 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
• 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
• 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
• 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
• Neuroimagings in neuronal migration disorders
• 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
• Neuropathological aspects of infantile spasms
• 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 mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly
• Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease
• Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
• Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome
• Pathogenesis of migration disorders
• Perampanel in lissencephaly-associated epilepsy
• Perioperative total intravenous anesthesia in a child with Walker-Warburg syndrome: A case report
• Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy
• 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
• Prenatal diagnosis of Walker-Warburg syndrome in three sibs
• Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy
• 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
• Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly
• Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly
• 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
• Type I lissencephaly syndrome. Clinical, neuroradiologic and electrographic analysis
• Walker-Warburg syndrome
• Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence
• Walker-Warburg syndrome: report of three affected sibs