Published in Am J Med Genet on October 08, 1999
Midbrain-hindbrain involvement in lissencephalies. Neurology (2008) 1.58
Malformations of cortical development. Neurologist (2008) 1.41
Genetic and biologic classification of infantile spasms. Pediatr Neurol (2011) 1.40
Genetic malformations of cortical development. Exp Brain Res (2006) 1.37
Mutations in ARX Result in Several Defects Involving GABAergic Neurons. Front Cell Neurosci (2010) 1.21
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain (2013) 1.14
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol (2010) 1.11
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet (2008) 1.08
A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J Cell Biol (2004) 1.05
Aristaless related homeobox gene, Arx, is implicated in mouse fetal Leydig cell differentiation possibly through expressing in the progenitor cells. PLoS One (2013) 0.85
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. Pathogenetics (2010) 0.82
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies. Neurobiol Dis (2015) 0.81
Developmental differences of the major forebrain commissures in lissencephalies. AJNR Am J Neuroradiol (2010) 0.80
Clinical Images: Postterm Newborn with Lissencephaly Presented with Seizure: Case Report and Review of Literature. Ochsner J (2015) 0.75
Arx is required for specification of the zona incerta and reticular nucleus of the thalamus. J Neuropathol Exp Neurol (2014) 0.75
Malformations of cortical development: genetic mechanisms and diagnostic approach. Korean J Pediatr (2017) 0.75
Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations. J Pediatr Gastroenterol Nutr (2015) 0.75
A Neonate with X-linked Lissencephaly with Ambiguous Genitalia. J Pediatr Neurosci (2017) 0.75
Clinical manifestations in children and adolescents with corpus callosum abnormalities. J Neurol (2016) 0.75
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA (1997) 8.30
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell (1990) 8.10
The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell (1990) 5.24
The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell (1990) 4.84
Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology (2003) 2.32
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology (2005) 2.04
Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology (2002) 1.90
Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet (1993) 1.83
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology (2007) 1.80
Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics (1995) 1.79
Aging in individuals with the FMR1 mutation. Am J Ment Retard (2004) 1.68
The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics (1990) 1.66
Proteinuria and nephrotic syndrome associated with chronic rejection of kidney transplants. N Engl J Med (1967) 1.61
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology (2005) 1.57
The apolipoprotein E epsilon 2 allele and decline in episodic memory. J Neurol Neurosurg Psychiatry (2002) 1.57
Epidermal growth factor receptor expression in neurofibromatosis type 1-related tumors and NF1 animal models. J Clin Invest (2000) 1.56
Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people. J Neurol Neurosurg Psychiatry (2005) 1.55
The apolipoprotein E epsilon4 allele increases the odds of chronic cerebral infarction [corrected] detected at autopsy in older persons. Stroke (2005) 1.55
Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics (1990) 1.40
Sudden death in Williams syndrome: report of ten cases. J Pediatr (1996) 1.38
Stopping medication in children with epilepsy: predictors of outcome. N Engl J Med (1981) 1.30
Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet (1996) 1.27
Neonatal seizures. I. Correlation of prenatal and perinatal events with outcomes. Pediatrics (1982) 1.15
Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. Am J Med Genet (1997) 1.14
A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. Mol Vis (2006) 1.09
A 90 kb DNA deletion associated with neurofibromatosis type 1. J Med Genet (1990) 1.07
Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1. Neurology (2003) 1.05
Two NF1 translocations map within a 600-kilobase segment of 17q11.2. Science (1989) 1.05
Preaxial ray reduction defects as part of valproic acid embryofetopathy. Prenat Diagn (1993) 1.03
cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics (1991) 1.02
Neonatal seizures. II. A multivariate analysis of factors associated with outcome. Pediatrics (1982) 1.01
Diffuse neonatal hemangiomatosis. Pediatrics (1970) 0.97
Cystlike white matter lesions in tuberous sclerosis. AJNR Am J Neuroradiol (1997) 0.97
The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. Cytogenet Cell Genet (1996) 0.96
Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry (1995) 0.93
Effects of fresh plasma or whole blood transfusions on patients with various types of mucopolysaccharidosis. Pediatrics (1972) 0.92
Genetic variation analysis in parkinson disease patients with and without hallucinations: case-control study. Arch Neurol (2001) 0.92
A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. J Intellect Disabil Res (2008) 0.91
Neurological involvement in nevus unis lateris and nevus linearis sebaceus. Neurology (1972) 0.90
A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Pediatr Res (1997) 0.90
Specific receptor-mediated inhibition of cyclic AMP synthesis by dopamine in a neuroblastoma X brain hybrid cell line NCB-20. J Neurochem (1984) 0.89
X-linked myotubular myopathy: clinical observations in ten additional cases. Am J Med Genet (1995) 0.87
Progressive venous occlusion in a neonate with Sturge-Weber syndrome: demonstration with MR venography. AJNR Am J Neuroradiol (1995) 0.87
Medroxprogesterone acetate in the treatment of seizures associated with menstruation. J Pediatr (1973) 0.86
Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Genomics (1995) 0.86
Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A (2009) 0.85
Heterologous expression of the serotonin 5-HT1A receptor in neural and non-neural cell lines. Biochem Biophys Res Commun (1993) 0.84
Possible role of gangliosides in regulating an adenylate cyclase-linked 5-hydroxytryptamine (5-HT1) receptor. J Neurochem (1985) 0.84
Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet (1998) 0.84
Childhood sarcoidosis. Progressive systemic illness with micronodular pulmonary involvement. Am J Dis Child (1975) 0.83
A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes. Genes Brain Behav (2009) 0.83
A point mutation associated with a severe phenotype of neurofibromatosis 2. Ann Neurol (1996) 0.82
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem (1994) 0.81
Evidence for [D-Ala2,D-Leu5]enkephalin-induced supersensitivity to 5-hydroxytryptamine in a neurotumor x brain hybrid cell line (NCB-20). J Neurochem (1985) 0.80
An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene. Hum Mol Genet (1994) 0.80
Failure of near-lethal inhibition of protein synthesis to alter pulmonary surfactant. Johns Hopkins Med J (1970) 0.79
The use of hypothermia: a role in the treatment of neonatal asphyxia? Pediatr Neurol (1999) 0.78
Topiramate for intractable childhood epilepsy. Seizure (1999) 0.78
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence. Am J Med Genet (1994) 0.77
Identification and characterization of the gene for neurofibromatosis type 1. Curr Opin Neurobiol (1991) 0.77
Stable expression and heterologous coupling of the kappa opioid receptor in cell lines of neural and nonneural origin. Life Sci (1996) 0.77
Benign familial neonatal convulsions; psychosocial adjustment to the threat of recurrent seizures. Seizure (1996) 0.77
Neurologic disease in a child with hepatoerythropoietic porphyria. Pediatr Dermatol (1994) 0.77
Neonatal seizures and their treatment. Clin Perinatol (1975) 0.77
Interferon beta-1b and childhood multiple sclerosis. Pediatr Neurol (1999) 0.77
Facial hemangioma, and associated malformations: a case report. Neuropediatrics (2004) 0.77
Differential regulation of multiple neuroreceptors in a somatic cell hybrid by inhibitors of glycoprotein processing. Biochem Biophys Res Commun (1986) 0.76
A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region. Genes Chromosomes Cancer (1990) 0.76
In search of the Holy Grail: NF1 mutation analysis and genotype-phenotype correlation. Genet Med (2001) 0.76
Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Fam Cancer (2012) 0.76
Use of the pediatric symptom checklist in the pediatric neurology population. Pediatr Neurol (1999) 0.76
Gangliosides as modulators of the coupling of neurotransmitters to adenylate cyclase. Adv Exp Med Biol (1984) 0.76
An unusual cystic appearance of disseminated low-grade gliomas. Neuroradiology (2001) 0.75
Opsoclonus-myoclonus and recurrent neuroblastoma. J Pediatr (1995) 0.75
The neurofibromatosis type 1 (NF1) gene: identification and partial characterization of a putative tumor suppressor gene. J Dermatol (1992) 0.75
Familial ring (19) chromosome mosaicism: case report and review. Am J Med Genet (1996) 0.75
Neurologic complications following bone marrow transplantation for sickle cell disease. Bone Marrow Transplant (1996) 0.75
New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry. Am J Med Genet (1994) 0.75
The NF1 translocation breakpoint region. Ann N Y Acad Sci (1991) 0.75
Plasma pressors in the normal and stressed newborn infant. Pediatrics (1972) 0.75
Modulation of an adenylate cyclase-linked serotonin (5-HT) receptor system in a neuroblastoma x brain explant hybrid cell line (NCB-20) by opiates, prostaglandins, and alpha 2-adrenergic agonists. Adv Biochem Psychopharmacol (1983) 0.75
Developmental neural abnormalities and seizures in epidermal nevus syndrome. Dev Med Child Neurol (1996) 0.75
Characterization of an adenylate cyclase-linked serotonin (5-HT1) receptor in a neuroblastoma X brain explant hybrid cell line (NCB-20). J Neurochem (1983) 0.75
Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers. Optom Vis Sci (2000) 0.75
Neurofibromatosis 1. Introduction. Am J Med Genet (1999) 0.75
Neonatal hemangiomatosis associated with brachial plexus palsy. J Child Neurol (1995) 0.75