Published in J Child Neurol on July 01, 2004
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Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics (2014) 2.08
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Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
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Prenatal brain disruption in molybdenum cofactor deficiency. J Child Neurol (2011) 1.45
A benign congenital myopathy in an inbred Samaritan family. Eur J Paediatr Neurol (2006) 1.41
Clinical characterization of gastroenteritis-related seizures in children: impact of fever and serum sodium levels. J Child Neurol (2011) 1.40
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero. J Child Neurol (2012) 1.39
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. Horm Res (2006) 1.39
Infant botulism in Israel: knowledge enables prompt diagnosis. Isr Med Assoc J (2004) 1.39
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia (2014) 1.38
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol (2005) 1.32
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet (2010) 1.21
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology (2013) 1.19
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron (2013) 1.06
Should autistic children be evaluated for mitochondrial disorders? J Child Neurol (2004) 1.06
Pediatric Crohn's disease and growth retardation: the role of genotype, phenotype, and disease severity. Pediatrics (2004) 1.05
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The fetal cerebellum. Pitfalls in diagnosis and management. Prenat Diagn (2009) 0.98
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA. Prenat Diagn (2003) 0.97
Acute heroin-related neuropathy. J Peripher Nerv Syst (2006) 0.96
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia (2013) 0.96
Oligohydrosis and hyperthermia: pilot study of a novel topiramate adverse effect. J Child Neurol (2003) 0.95
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Am J Med Genet A (2009) 0.95
Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings. AJNR Am J Neuroradiol (2003) 0.95
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Mol Genet Metab (2009) 0.94
TNF promoter polymorphisms and modulation of growth retardation and disease severity in pediatric Crohn's disease. Am J Gastroenterol (2005) 0.93
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. Eur J Hum Genet (2010) 0.93
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. Clin Immunol (2011) 0.93
White matter involvement in mitochondrial diseases. Mol Genet Metab (2004) 0.91
Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. Isr Med Assoc J (2003) 0.90
Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort. Pediatr Res (2005) 0.89
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol (2012) 0.89
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene. J Neurol Sci (2010) 0.89
Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet A (2008) 0.89
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet (2012) 0.88
Early-onset Crohn disease is associated with male sex and a polymorphism in the IL-6 promoter. J Pediatr Gastroenterol Nutr (2010) 0.88
Variants in ZNF365 isoform D are associated with Crohn's disease. Gut (2011) 0.87
The prevalence of atypical presentations and comorbidities of benign childhood epilepsy with centrotemporal spikes. Epilepsia (2011) 0.87
Risk factors for perianal Crohn's disease: the role of genotype, phenotype, and ethnicity. Am J Gastroenterol (2007) 0.86
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. Eur J Paediatr Neurol (2010) 0.86
Acute painful neuropathy induced by rapid correction of serum glucose levels in diabetic patients. Biomed Pharmacother (2008) 0.86
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. Hum Mutat (2004) 0.85
Comparison of continuous drip of midazolam or lidocaine in the treatment of intractable neonatal seizures. J Child Neurol (2007) 0.85
Acute confusional migraine in an adolescent: response to intravenous valproate. Pediatrics (2010) 0.85
Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. J Clin Endocrinol Metab (2014) 0.85
A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. J Neurol Sci (2011) 0.84
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region. Am J Med Genet A (2012) 0.84
Pediatric refractory partial status epilepticus responsive to topiramate. J Child Neurol (2005) 0.83
Asymptomatic or minimally symptomatic hyperCKemia: histopathologic correlates. Isr Med Assoc J (2006) 0.83
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet (2014) 0.83
Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence. J Child Neurol (2010) 0.83
Central 22q11.2 deletions. Am J Med Genet A (2014) 0.82
Israeli children with autism spectrum disorder are not macrocephalic. J Child Neurol (2011) 0.82
Imaging of fetal cytomegalovirus infection. Fetal Diagn Ther (2010) 0.82
Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy. Prenat Diagn (2004) 0.82
Technetium 99m ethylcysteinate dimer single-photon emission computed tomography (SPECT) during intellectual stress test in children and adolescents with pure versus comorbid attention-deficit hyperactivity disorder (ADHD). J Child Neurol (2004) 0.82
Ketamine increases opening cerebrospinal pressure in children undergoing lumbar puncture. J Child Neurol (2006) 0.82
NOD2/CARD15 mutations and presence of granulomas in pediatric and adult Crohn's disease. Inflamm Bowel Dis (2004) 0.82
Developmental outcome of children with enlargement of the cisterna magna identified in utero. J Child Neurol (2009) 0.81
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. Mol Genet Metab (2010) 0.81
Costeff syndrome: clinical features and natural history. J Neurol (2014) 0.81
Fetal central nervous system: MR imaging versus dedicated US--need for prospective, blind, comparative studies. Radiology (2004) 0.81
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. Am J Med Genet A (2007) 0.80
Congenital hydrocephalus and continuous spike wave in slow-wave sleep--a common association? J Child Neurol (2004) 0.80