Published in Am J Med Genet A on August 01, 2007
Creatine transporter deficiency in two adult patients with static encephalopathy. J Inherit Metab Dis (2009) 0.80
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency. Orphanet J Rare Dis (2012) 0.78
Creatine transporter deficiency: Novel mutations and functional studies. Mol Genet Metab Rep (2016) 0.75
MR imaging of the substantia nigra at 7 T enables diagnosis of Parkinson disease. Radiology (2014) 2.14
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain (2013) 2.02
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet (2006) 1.95
Age dependence of cerebral perfusion assessed by magnetic resonance continuous arterial spin labeling. J Magn Reson Imaging (2007) 1.72
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet (2008) 1.62
Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system? Ann Neurol (2007) 1.60
Hand movements at 3 months predict later hemiplegia in term infants with neonatal cerebral infarction. Dev Med Child Neurol (2009) 1.56
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol (2011) 1.55
Spatiotopic selectivity of BOLD responses to visual motion in human area MT. Nat Neurosci (2006) 1.52
Cramped synchronized general movements in preterm infants as an early marker for cerebral palsy. Arch Pediatr Adolesc Med (2002) 1.50
Developmental plasticity connects visual cortex to motoneurons after stroke. Ann Neurol (2010) 1.48
Reliability of a novel, semi-quantitative scale for classification of structural brain magnetic resonance imaging in children with cerebral palsy. Dev Med Child Neurol (2014) 1.45
Neurodevelopmental disorders in children with severe to profound sensorineural hearing loss: a clinical study. Dev Med Child Neurol (2010) 1.42
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function. Dev Med Child Neurol (2005) 1.38
Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol (2012) 1.31
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology (2012) 1.28
Massage accelerates brain development and the maturation of visual function. J Neurosci (2009) 1.24
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia (2009) 1.23
White matter pathology in phenylketonuria. Mol Genet Metab (2010) 1.23
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia (2007) 1.21
Multiparametric 3T MR approach to the assessment of cerebral gliomas: tumor extent and malignancy. Neuroradiology (2006) 1.15
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol (2011) 1.11
Spatiotopic coding of BOLD signal in human visual cortex depends on spatial attention. PLoS One (2011) 1.10
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain (2014) 1.08
Dorsal and ventral stream sensitivity in normal development and hemiplegia. Neuroreport (2002) 1.07
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat (2009) 1.07
Female children with autism spectrum disorder: an insight from mass-univariate and pattern classification analyses. Neuroimage (2011) 1.07
White matter connectivity in children with autism spectrum disorders: a tract-based spatial statistics study. BMC Neurol (2012) 1.06
Proton MR spectroscopy of the brain at 3 T: an update. Eur Radiol (2007) 1.06
Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. AJNR Am J Neuroradiol (2003) 1.05
Neonatal cerebral infarction and neuromotor outcome at school age. Pediatrics (2004) 1.05
The effects of preterm infant massage on brain electrical activity. Dev Med Child Neurol (2011) 1.01
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain (2013) 1.00
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics (2006) 1.00
Proton MR spectroscopy of cerebral gliomas at 3 T: spatial heterogeneity, and tumour grade and extent. Eur Radiol (2008) 0.99
Environmental enrichment decreases GABAergic inhibition and improves cognitive abilities, synaptic plasticity, and visual functions in a mouse model of Down syndrome. Front Cell Neurosci (2011) 0.99
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics (2013) 0.98
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. Eur J Hum Genet (2012) 0.98
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia (2006) 0.98
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. Epilepsia (2005) 0.97
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Epilepsia (2004) 0.96
Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene. Brain Dev (2009) 0.96
Do phonologic and rapid automatized naming deficits differentially affect dyslexic children with and without a history of language delay? A study of Italian dyslexic children. Cogn Behav Neurol (2006) 0.96
A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies. Eur J Paediatr Neurol (2011) 0.94
Impaired visual size-discrimination in children with movement disorders. Neuropsychologia (2012) 0.94
Timing and type of congenital brain lesion determine different patterns of language lateralization in hemiplegic children. Neuropsychologia (2002) 0.94
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. J Inherit Metab Dis (2011) 0.93
Neuronal mechanisms for illusory brightness perception in humans. Neuron (2005) 0.93
Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase (2008) 0.93
Kinematic characterization of functional reach to grasp in normal and in motor disabled children. Gait Posture (2007) 0.93
Spatio-temporal pattern of vestibular information processing after brief caloric stimulation. Eur J Radiol (2008) 0.92
Search superiority in autism within, but not outside the crowding regime. Vision Res (2009) 0.92
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Mov Disord (2012) 0.91
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype. Am J Med Genet A (2008) 0.90
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics (2012) 0.90
Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts. Anal Biochem (2008) 0.89
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab (2002) 0.88
Visual performance and brain structures in the developing brain of pre-term infants. Early Hum Dev (2010) 0.87
Rapid naming, not cancellation speed or articulation rate, predicts reading in an orthographically regular language (Italian). Child Neuropsychol (2005) 0.87
Sleep polygraphy in Angelman syndrome. Clin Neurophysiol (2004) 0.86
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. Neurogenetics (2004) 0.86
Study protocol: safety and efficacy of propranolol in newborns with Retinopathy of Prematurity (PROP-ROP): ISRCTN18523491. BMC Pediatr (2010) 0.86
Yawning frequency and distribution in preterm and near term infants assessed throughout 24-h recordings. Infant Behav Dev (2007) 0.86
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia (2007) 0.86
Brain representation of active and passive hand movements in children. Pediatr Res (2007) 0.85
Metabolic epilepsy: an update. Brain Dev (2012) 0.85
Blindsight in children with congenital and acquired cerebral lesions. Cortex (2012) 0.85
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr (2006) 0.85
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene. Epilepsia (2010) 0.85
Neural correlates of texture and contour integration in children with autism spectrum disorders. Vision Res (2009) 0.84
Development of anticipatory orienting strategies and trajectory formation in goal-oriented locomotion. Exp Brain Res (2013) 0.84
Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation. Neurobiol Dis (2012) 0.84
Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency. Mov Disord (2013) 0.84
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. Epilepsia (2011) 0.84
Cortical visual function in preterm infants in the first year. J Pediatr (2010) 0.84
A proposed multidisciplinary approach for identifying feeding abnormalities in children with cerebral palsy. J Child Neurol (2011) 0.84
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics. Exp Mol Med (2010) 0.83
Upper limb children action-observation training (UP-CAT): a randomised controlled trial in hemiplegic cerebral palsy. BMC Neurol (2011) 0.83
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis. Mol Cell Probes (2012) 0.83
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. Eur J Hum Genet (2012) 0.83