Published in Ultrasound Obstet Gynecol on March 01, 2009
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. Pediatr Radiol (2011) 0.89
Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology. Ultrasound Int Open (2016) 0.75
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature (1989) 3.75
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57
Coding sequence and growth regulation of the human vimentin gene. Mol Cell Biol (1986) 2.34
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology (2007) 1.93
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology (2005) 1.85
RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74
Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A (2001) 1.69
A cortical area that responds specifically to optic flow, revealed by fMRI. Nat Neurosci (2000) 1.65
The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology (2004) 1.63
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr (1994) 1.59
Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study. AJNR Am J Neuroradiol (2007) 1.57
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics (2007) 1.53
Combined use of electroencephalogram and magnetic resonance imaging in full-term neonates with acute encephalopathy. Pediatrics (2001) 1.53
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology (2003) 1.45
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A (2008) 1.44
Epilepsia partialis continua and neuronal migration anomalies. Brain Dev (1992) 1.44
Effects of chronic antidepressant treatments on serotonin transporter function, density, and mRNA level. J Neurosci (1999) 1.42
Construction and in vitro functional evaluation of a low-density lipoprotein receptor/transferrin fusion protein as a therapeutic tool for familial hypercholesterolemia. Hum Gene Ther (1999) 1.39
Molecular cloning of the cDNA for a growth factor-inducible gene with strong homology to S-100, a calcium-binding protein. J Biol Chem (1986) 1.36
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet (1996) 1.36
Structural and functional analysis of a growth-regulated gene, the human calcyclin. J Biol Chem (1987) 1.36
An early marker for neurological deficits after perinatal brain lesions. Lancet (1997) 1.32
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet (2001) 1.30
Molecular cloning of a cDNA for a human ADP/ATP carrier which is growth-regulated. J Biol Chem (1987) 1.27
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology (2004) 1.26
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet (2001) 1.23
Glutathione in blood of patients with Friedreich's ataxia. Eur J Clin Invest (2001) 1.22
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol (2001) 1.22
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet (1998) 1.20
Deficits in memory and hippocampal long-term potentiation in mice with reduced calbindin D28K expression. Proc Natl Acad Sci U S A (1996) 1.19
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology (2007) 1.19
The gene encoding human vimentin is located on the short arm of chromosome 10. Am J Hum Genet (1987) 1.17
Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy. Epilepsia (1990) 1.16
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet (1997) 1.15
The nuclear localization domain of the MEF2 family of transcription factors shows member-specific features and mediates the nuclear import of histone deacetylase 4. J Cell Sci (2001) 1.13
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. Neurology (1998) 1.12
Qualitative changes of general movements in preterm infants with brain lesions. Early Hum Dev (1990) 1.11
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology (1991) 1.10
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res (1990) 1.09
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. Biochem Biophys Res Commun (1999) 1.09
The qualitative assessment of general movements in preterm, term and young infants--review of the methodology. Early Hum Dev (1997) 1.08
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology (2007) 1.07
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology (2010) 1.07
SPG3A: An additional family carrying a new atlastin mutation. Neurology (2002) 1.07
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet (1996) 1.07
Estrogen receptor beta in the paraventricular nucleus of hypothalamus regulates the neuroendocrine response to stress and is regulated by corticosterone. Neuroscience (2003) 1.07
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int (2006) 1.06
Inhibition of cortical acetylcholine release and cognitive performance by histamine H3 receptor activation in rats. Br J Pharmacol (1996) 1.06
Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet (1988) 1.06
Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology (2004) 1.06
The origin, effects and control of air pollution in laboratories used for human embryo culture. Hum Reprod (1998) 1.05
New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet (1991) 1.04
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology (2003) 1.04
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord (2010) 1.04
Clinical features, risk factors, and prognosis in transient global amnesia: a follow-up study. Eur J Neurol (2005) 1.03
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet (2008) 1.03
Inter-individual differences in novelty-seeking behavior in rats predict differential responses to desipramine in the forced swim test. Psychopharmacology (Berl) (2008) 1.01
Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. Acta Myol (2011) 1.01
Electroclinical correlation in neonatal seizures. Eur J Paediatr Neurol (1998) 1.01
Neurologic examination in infants with hypoxic-ischemic encephalopathy at age 9 to 14 months: use of optimality scores and correlation with magnetic resonance imaging findings. J Pediatr (2001) 1.01
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord (2006) 1.01
Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr (1992) 1.01
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord (1999) 0.99
A prospective study of the ability of three endoscopic classifications to predict hemorrhage from esophageal varices. Gastrointest Endosc (1992) 0.99
Visual outcome at 5 years of newborn infants at risk of cerebral visual impairment. Dev Med Child Neurol (1998) 0.98
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology (1997) 0.98
Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study. Neuromuscul Disord (2004) 0.98
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases. Ann Neurol (2000) 0.98
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord (2005) 0.98
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology (2004) 0.97
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology (2005) 0.97
Visual function in term infants with hypoxic-ischaemic insults: correlation with neurodevelopment at 2 years of age. Arch Dis Child Fetal Neonatal Ed (1999) 0.96
Differential effects of social defeat in rats with high and low locomotor response to novelty. Neuroscience (2011) 0.96
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology (1993) 0.96
Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. J Neurol Sci (1992) 0.96
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology (2004) 0.95
The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients. Neurology (2005) 0.95
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis (2002) 0.95
Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci (1991) 0.95
Reorganisation of the somatosensory system after early brain damage. Clin Neurophysiol (2007) 0.95
Plasticity and reorganization during language development in children with early brain injury. Cortex (2000) 0.95
POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord (2006) 0.95