Published in AJNR Am J Neuroradiol on September 01, 2005
Quantification of brain maturation and growth patterns in C57BL/6J mice via computational neuroanatomy of diffusion tensor images. Cereb Cortex (2008) 1.06
Infratentorial progressive multifocal leucoencephalopathy (PML) in a patient with SLE (2008: 4b). Eur Radiol (2008) 0.93
Diffusion-weighted and diffusion tensor imaging of the brain, made easy. Cancer Imaging (2010) 0.78
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Cerebral sinus venous thrombosis in Swiss children. Dev Med Child Neurol (2010) 2.25
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med (2003) 2.19
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Predicting adverse events in children with fever and chemotherapy-induced neutropenia: the prospective multicenter SPOG 2003 FN study. J Clin Oncol (2010) 1.81
Brain sensitivity to print emerges when children learn letter-speech sound correspondences. Proc Natl Acad Sci U S A (2010) 1.63
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest (2011) 1.60
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain (2010) 1.51
Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol (2009) 1.50
Real-time quantitative broad-range PCR assay for detection of the 16S rRNA gene followed by sequencing for species identification. J Clin Microbiol (2006) 1.49
Basilar artery stroke in childhood. Dev Med Child Neurol (2012) 1.48
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies. Dev Med Child Neurol (2010) 1.42
Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol (2006) 1.41
Evidence for developmental changes in the visual word processing network beyond adolescence. Neuroimage (2005) 1.41
Horizontal head titubation in infants with Joubert syndrome: a new finding. Dev Med Child Neurol (2014) 1.40
Children with dyslexia lack multiple specializations along the visual word-form (VWF) system. Neuroimage (2009) 1.40
Transcranial magnetic resonance imaging-guided focused ultrasound: noninvasive central lateral thalamotomy for chronic neuropathic pain. Neurosurg Focus (2012) 1.40
The diagnosis of brain tuberculoma by (1)H-magnetic resonance spectroscopy. Eur J Pediatr (2011) 1.39
Factors affecting cognitive outcome in early pediatric stroke. Neurology (2014) 1.39
The left occipitotemporal system in reading: disruption of focal fMRI connectivity to left inferior frontal and inferior parietal language areas in children with dyslexia. Neuroimage (2010) 1.36
In vivo detection of GABA and glutamate with MEGA-PRESS: reproducibility and gender effects. J Magn Reson Imaging (2011) 1.36
Spontaneous intracranial haemorrhage in children: aetiology, presentation and outcome. Brain Dev (2003) 1.35
Correspondence of event-related potential tomography and functional magnetic resonance imaging during language processing. Hum Brain Mapp (2002) 1.33
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32
Prevalence of enteroaggregative Escherichia coli among children with and without diarrhea in Switzerland. J Clin Microbiol (2003) 1.28
Disruption of cerebellar development: potential complication of extreme prematurity. AJNR Am J Neuroradiol (2005) 1.24
Impaired neural networks for approximate calculation in dyscalculic children: a functional MRI study. Behav Brain Funct (2006) 1.24
Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol (2007) 1.24
Plasma cell toll-like receptor (TLR) expression differs from that of B cells, and plasma cell TLR triggering enhances immunoglobulin production. Immunology (2009) 1.23
Fetal magnetic resonance imaging of the central nervous system: a pictorial essay. Eur Radiol (2002) 1.22
Fetal magnetic resonance imaging of the brain: technical considerations and normal brain development. Eur Radiol (2001) 1.22
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. Biochem J (2009) 1.20
Optimized virus disruption improves detection of HIV-1 p24 in particles and uncovers a p24 reactivity in patients with undetectable HIV-1 RNA under long-term HAART. J Med Virol (2006) 1.19
Progressive multicystic encephalopathy: is there more than hypoxia-ischemia? J Child Neurol (2007) 1.18
Outcome of craniopharyngioma in children: long-term complications and quality of life. Dev Med Child Neurol (2004) 1.18
Simultaneous EEG-fMRI during a working memory task: modulations in low and high frequency bands. PLoS One (2010) 1.17
Infective endocarditis in congenital heart disease. Eur J Pediatr (2011) 1.15
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15
Prospective surveillance of hospitalisations associated with varicella-zoster virus infections in children and adolescents. Eur J Pediatr (2005) 1.14
Adaptation of the ultrasensitive HIV-1 p24 antigen assay to dried blood spot testing. J Acquir Immune Defic Syndr (2007) 1.14
Three consecutive outbreaks of Serratia marcescens in a neonatal intensive care unit. Clin Infect Dis (2002) 1.13
Development of neural networks for exact and approximate calculation: a FMRI study. Dev Neuropsychol (2008) 1.10
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. Eur J Paediatr Neurol (2007) 1.10
Is the in vitro interferon-gamma release assay an adequate replacement for the tuberculin skin test? Clin Infect Dis (2002) 1.10
Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1. J Pediatr (2006) 1.07
Sub-aponeurotic fluid collections: a delayed-onset self-limiting cerebrospinal fluid fistula in young infants. Eur J Paediatr Neurol (2007) 1.07
Tuning of the visual word processing system: distinct developmental ERP and fMRI effects. Hum Brain Mapp (2009) 1.06
Acute ischemic stroke in children versus young adults. Ann Neurol (2011) 1.06
Delayed postischemic hypothermia improves long-term behavioral outcome after cerebral hypoxia-ischemia in neonatal rats. Pediatr Res (2002) 1.05
Neuropsychological long-term sequelae after posterior fossa tumour resection during childhood. Brain (2003) 1.05
Sex and gender differences in travel-associated disease. Clin Infect Dis (2010) 1.05
Frontal GABA levels change during working memory. PLoS One (2012) 1.04
Impaired semantic processing during sentence reading in children with dyslexia: combined fMRI and ERP evidence. Neuroimage (2008) 1.04
Quantitative detection of Moraxella catarrhalis in nasopharyngeal secretions by real-time PCR. J Clin Microbiol (2003) 1.04
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet (2014) 1.02
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A (2006) 1.02
eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet (2003) 1.02
Quantitative profiling of housekeeping and Epstein-Barr virus gene transcription in Burkitt lymphoma cell lines using an oligonucleotide microarray. Virol J (2006) 1.00
Inadequate clearance of translocated bacterial products in HIV-infected humanized mice. PLoS Pathog (2010) 1.00
Profile of travel-associated illness in children, Zürich, Switzerland. J Travel Med (2012) 0.99
Cellular immune responses and disease control in acute AIDS-associated Kaposi's sarcoma. AIDS (2009) 0.98
Delay in the diagnosis of paediatric brain tumours. Eur J Pediatr (2002) 0.98
Distinct ex vivo susceptibility of B-cell subsets to epstein-barr virus infection according to differentiation status and tissue origin. J Virol (2008) 0.97
Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH. Pediatr Dent (2010) 0.96
Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination? AJNR Am J Neuroradiol (2003) 0.96
Featural and configural face processing strategies: evidence from a functional magnetic resonance imaging study. Neuroreport (2008) 0.95
Brain state regulation during normal development: Intrinsic activity fluctuations in simultaneous EEG-fMRI. Neuroimage (2012) 0.95
Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr (2010) 0.95
A distinct subpopulation of human NK cells restricts B cell transformation by EBV. J Immunol (2013) 0.95
Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol (2008) 0.94
Long-term outcome of ten children with opsoclonus-myoclonus syndrome. Eur J Pediatr (2006) 0.94
Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol (2006) 0.94
Immune activation suppresses initiation of lytic Epstein-Barr virus infection. Cell Microbiol (2007) 0.93
Dorsal stream development in motion and structure-from-motion perception. Neuroimage (2007) 0.92
Quantitative cytokine gene expression in human tonsils at excision and during histoculture assessed by standardized and calibrated real-time PCR and novel data processing. J Immunol Methods (2003) 0.92
Use of simple heuristics to target macrolide prescription in children with community-acquired pneumonia. Arch Pediatr Adolesc Med (2002) 0.92
HIV-1 does not provoke alteration of cytokine gene expression in lymphoid tissue after acute infection ex vivo. J Immunol (2004) 0.92
Congenital abnormalities of the posterior fossa. Radiographics (2015) 0.92
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? Cerebellum (2014) 0.91
Morphological spectrum of prenatal cerebellar disruptions. Eur J Paediatr Neurol (2008) 0.91
Detection of Haemophilus influenzae type b by real-time PCR. J Clin Microbiol (2004) 0.91
Print-specific multimodal brain activation in kindergarten improves prediction of reading skills in second grade. Neuroimage (2013) 0.90
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Hum Genet (2014) 0.90
Symptomatic SUNCT in an eleven-year-old girl. Neurology (2003) 0.90
Maturation of luminance- and motion-defined form perception beyond adolescence: a combined ERP and fMRI study. Neuroimage (2006) 0.90
Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome. Eur J Pediatr (2008) 0.90
Pediatric epstein-barr virus carriers with or without tonsillar enlargement may substantially contribute to spreading of the virus. J Infect Dis (2010) 0.90
Randomised trial of oral versus sequential intravenous/oral cephalosporins in children with pyelonephritis. Eur J Pediatr (2007) 0.90