Published in AJNR Am J Neuroradiol on January 14, 2000
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet (2004) 2.76
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61
The radial edifice of cortical architecture: from neuronal silhouettes to genetic engineering. Brain Res Rev (2007) 1.60
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol (2015) 1.58
Malformations of cortical development and epilepsy. Dialogues Clin Neurosci (2008) 1.53
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet (2002) 1.20
A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet (2002) 1.19
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A (2008) 1.12
Genetics of the polymicrogyria syndromes. J Med Genet (2005) 1.10
MRI analysis of sulcation morphology in polymicrogyria. Epilepsia (2010) 1.07
Current concepts of polymicrogyria. Neuroradiology (2010) 0.98
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet (2009) 0.97
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. Neurogenetics (2008) 0.88
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia (2008) 0.87
A fuzzy system for helping medical diagnosis of malformations of cortical development. J Biomed Inform (2006) 0.85
Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. Pediatr Radiol (2004) 0.83
Genetic Basis of Brain Malformations. Mol Syndromol (2016) 0.82
Diffusion tensor imaging in polymicrogyria: a report of three cases. Neuroradiology (2006) 0.81
Cerebral cortex expansion and folding: what have we learned? EMBO J (2016) 0.81
Polymicrogyria: correlation of magnetic resonance imaging and clinical findings. Childs Nerv Syst (2012) 0.81
Mapping genetic influences on cortical regionalization. Neuron (2011) 0.80
Voxel-based morphometry and intellectual assessment in patients with congenital bilateral perisylvian syndrome. J Neurol (2014) 0.79
Malformations of cortical development: 3T magnetic resonance imaging features. World J Radiol (2015) 0.78
Cortical Clefts and Cortical Bumps: A Continuous Spectrum. J Clin Diagn Res (2016) 0.78
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev (2009) 0.78
Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med (2015) 0.76
Bilateral mesial temporal polymicrogyria: a case report. BMJ Case Rep (2009) 0.75
Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Pediatr Neurol (2013) 0.75
Genetic malformations of the human frontal lobe. Epilepsia (2010) 0.75
A developmental and genetic classification for malformations of cortical development. Neurology (2005) 3.50
Terminology and classification of the cortical dysplasias. Neurology (2004) 2.99
Classification system for malformations of cortical development: update 2001. Neurology (2001) 2.59
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain (2006) 2.00
Pharmacology of nociceptin and its receptor: a novel therapeutic target. Br J Pharmacol (2000) 1.97
Cell migration from the ganglionic eminences is required for the development of hippocampal GABAergic interneurons. Neuron (2000) 1.91
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. Neurology (1990) 1.78
An olfactory sensory map develops in the absence of normal projection neurons or GABAergic interneurons. Neuron (1998) 1.76
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74
Early neocortical regionalization in the absence of thalamic innervation. Science (1999) 1.70
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology (2012) 1.67
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet (1993) 1.65
Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results. Epilepsia (2001) 1.62
Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology (2010) 1.59
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology (2005) 1.57
MR of Zellweger syndrome. AJNR Am J Neuroradiol (1997) 1.51
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol (1999) 1.47
Neuropeptide S is a stimulatory anxiolytic agent: a behavioural study in mice. Br J Pharmacol (2008) 1.46
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology (2003) 1.45
X-linked malformations of neuronal migration. Neurology (1996) 1.42
Genetic control of cortical regionalization and connectivity. Cereb Cortex (1999) 1.40
Facial hemangioma and cerebral corticovascular dysplasia: a syndrome associated with epilepsy. Neurology (2003) 1.39
Delta opioidmimetic antagonists: prototypes for designing a new generation of ultraselective opioid peptides. Mol Med (1995) 1.34
Expression and immunolocalization of the plasma membrane monoamine transporter in the brain. Neuroscience (2007) 1.30
Presence and bronchomotor activity of protease-activated receptor-2 in guinea pig airways. Am J Respir Crit Care Med (2000) 1.24
Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol (1994) 1.22
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
Characterization of [Nphe(1)]nociceptin(1-13)NH(2), a new selective nociceptin receptor antagonist. Br J Pharmacol (2000) 1.18
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Neurology (2002) 1.18
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol (1999) 1.16
Simultaneous targeting of multiple opioid receptors: a strategy to improve side-effect profile. Br J Anaesth (2009) 1.15
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. AJNR Am J Neuroradiol (2013) 1.14
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet (2003) 1.14
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol (2000) 1.13
Intravenous immunoglobulin in neurological disease: a specialist review. J Neurol Neurosurg Psychiatry (2002) 1.13
Involvement of the pontomedullary corticospinal tracts: a useful finding in the diagnosis of X-linked adrenoleukodystrophy. AJNR Am J Neuroradiol (1997) 1.12
Urodynamic and clinical evidence of acute inhibitory effects of intravesical nociceptin/orphanin FQ on detrusor overactivity in humans: a pilot study. J Urol (2001) 1.12
Further studies on the Dmt-Tic pharmacophore: hydrophobic substituents at the C-terminus endow delta antagonists to manifest mu agonism or mu antagonism. J Med Chem (1999) 1.11
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet (1998) 1.09
Characterization of nociceptin receptors in the periphery: in vitro and in vivo studies. Naunyn Schmiedebergs Arch Pharmacol (1999) 1.08
Pharmacological characterization of the nociceptin receptor mediating hyperalgesia in the mouse tail withdrawal assay. Br J Pharmacol (1998) 1.07
Assessment of the deep gray nuclei in holoprosencephaly. AJNR Am J Neuroradiol (2001) 1.07
Comparison of the effects of [Phe1psi(CH2-NH)Gly2]nociceptin(1-13)NH2 in rat brain, rat vas deferens and CHO cells expressing recombinant human nociceptin receptors. Br J Pharmacol (1999) 1.06
Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol (2000) 1.05
Functional studies of new GLA gene mutations leading to conformational Fabry disease. Biochim Biophys Acta (2009) 1.05
Evolution of the Dmt-Tic pharmacophore: N-terminal methylated derivatives with extraordinary delta opioid antagonist activity. J Med Chem (1997) 1.05
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology (2003) 1.04
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol (1998) 1.04
Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus. Brain (2003) 1.04
Structure-activity study of the nociceptin(1-13)-NH2 N-terminal tetrapeptide and discovery of a nociceptin receptor antagonist. J Med Chem (1998) 1.02
Nociceptin/orphanin FQ receptor ligands. Peptides (2000) 1.02
Mutation of the Emx-1 homeobox gene disrupts the corpus callosum. Dev Biol (1996) 1.01
The mouse vas deferens: a pharmacological preparation sensitive to nociceptin. Eur J Pharmacol (1996) 1.00
In vitro characterization of J-113397, a non-peptide nociceptin/orphanin FQ receptor antagonist. Naunyn Schmiedebergs Arch Pharmacol (2000) 1.00
Posterior quadrantic dysplasia or hemi-hemimegalencephaly: a characteristic brain malformation. Neurology (2004) 1.00
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol (2009) 0.99
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet (1997) 0.99
Cytochrome oxidase in Alzheimer's disease: biochemical, histochemical, and immunohistochemical analyses of the visual and other systems. Vision Res (1997) 0.99
Lack of cortical contrast gain control in human photosensitive epilepsy. Nat Neurosci (2000) 0.99
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. J Med Genet (2008) 0.98
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet (1998) 0.97
Bilateral perisylvian polymicrogyria in three generations. Neurology (1999) 0.97
Early-onset benign occipital seizure susceptibility syndrome. Epilepsia (1997) 0.97
Polymorphonuclear neutrophils pulsed with synthetic peptides efficiently activate memory cytotoxic T lymphocytes. J Leukoc Biol (1996) 0.96
Seizures in Klinefelter's syndrome. Pediatr Neurol (1998) 0.95
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain (2000) 0.95
Reorganisation of the somatosensory system after early brain damage. Clin Neurophysiol (2007) 0.95
Characterization of the locomotor activity-inhibiting effect of nociceptin/orphanin FQ in mice. Naunyn Schmiedebergs Arch Pharmacol (2001) 0.94
Identification and characterization of three calmodulin binding sites of the skeletal muscle ryanodine receptor. Biochemistry (1994) 0.94
Perspectives of protein kinase C (PKC) inhibitors as anti-cancer agents. Mini Rev Med Chem (2009) 0.94
Pharmacological characterization of the nociceptin receptor mediating hyperphagia: identification of a selective antagonist. Psychopharmacology (Berl) (2000) 0.94
Selective opioid dipeptides. Biochem Biophys Res Commun (1994) 0.94
Modulation of 5-hydroxytryptamine efflux from rat cortical synaptosomes by opioids and nociceptin. Br J Pharmacol (2000) 0.94
The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS Multicenter Collaborative Study. Neurology (1994) 0.93
Effects of Ro 64-6198 in nociceptin/orphanin FQ-sensitive isolated tissues. Naunyn Schmiedebergs Arch Pharmacol (2001) 0.93
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Clin Genet (2011) 0.93
Blockade of nociceptin/orphanin FQ-NOP receptor signalling produces antidepressant-like effects: pharmacological and genetic evidences from the mouse forced swimming test. Eur J Neurosci (2003) 0.92
Hemiconvulsion-hemiplegia-epilepsy syndrome: early magnetic resonance imaging findings and neuroradiological follow-up. Brain Dev (2006) 0.92
Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. AJNR Am J Neuroradiol (2008) 0.91
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics (2003) 0.91
[Nphe(1)]NC(1-13)NH(2) selectively antagonizes nociceptin/orphanin FQ-stimulated G-protein activation in rat brain. J Pharmacol Exp Ther (2000) 0.90
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet (1997) 0.90
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. J Pharm Biomed Anal (2009) 0.90
Characterisation and comparison of novel ligands for the nociceptin/orphanin FQ receptor. Naunyn Schmiedebergs Arch Pharmacol (2001) 0.89
Identification of a novel 45 kDa protein (JP-45) from rabbit sarcoplasmic-reticulum junctional-face membrane. Biochem J (2000) 0.89
[Nphe(1)]nociceptin-(1-13)-NH(2) antagonizes nociceptin effects in the mouse colon. Eur J Pharmacol (1999) 0.89
Neuropeptide S produces hyperlocomotion and prevents oxidative stress damage in the mouse brain: a comparative study with amphetamine and diazepam. Pharmacol Biochem Behav (2008) 0.88
The nociceptin/orphanin FQ receptor antagonist, [Nphe1]NC(1-13)NH2, potentiates morphine analgesia. Neuroreport (2000) 0.88
Antidepressant-like effects of the nociceptin/orphanin FQ receptor antagonist UFP-101: new evidence from rats and mice. Naunyn Schmiedebergs Arch Pharmacol (2004) 0.88
[Dmt1]N/OFQ(1-13)-NH2: a potent nociceptin/orphanin FQ and opioid receptor universal agonist. Br J Pharmacol (2013) 0.88
Epilepsy, antiepileptic drugs, and malformations in children of women with epilepsy: a French prospective cohort study. Neurology (1992) 0.88
Early add-on immunoglobulin administration in Rasmussen encephalitis: the hypothesis of neuroimmunomodulation. Med Hypotheses (2011) 0.87
In vitro and in vivo pharmacological characterization of nociceptin/orphanin FQ tetrabranched derivatives. Br J Pharmacol (2014) 0.87
Pharmacology of [Tyr1]nociceptin analogs: receptor binding and bioassay studies. Naunyn Schmiedebergs Arch Pharmacol (1999) 0.86
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology (1997) 0.86
Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Mol Genet Metab (2011) 0.86
Visual sensitivity and epilepsy: a proposed terminology and classification for clinical and EEG phenomenology. Epilepsia (2001) 0.86
Pharmacological profile of hemokinin 1: a novel member of the tachykinin family. Life Sci (2002) 0.86
Pharmacological characterization of nociceptin receptor: an in vitro study. Can J Physiol Pharmacol (1997) 0.86
Copper complexes of glycyl-histidyl-lysine and two of its synthetic analogues: chemical behaviour and biological activity. Biochim Biophys Acta (2001) 0.86