Published in Pediatr Rheumatol Online J on May 03, 2013
Muscle MRI in muscular dystrophies. Acta Myol (2015) 0.80
Limb Girdle Muscular Dystrophy (LGMD): Case Report. J Clin Diagn Res (2015) 0.79
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? Am J Case Rep (2017) 0.75
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol (2007) 1.76
Quantitative assessment of MRI T2 relaxation time of thigh muscles in juvenile dermatomyositis. Rheumatology (Oxford) (2004) 1.32
New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry (2009) 1.28
International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials. Arthritis Rheum (2007) 1.28
Juvenile dermatomyositis: new developments in pathogenesis, assessment and treatment. Best Pract Res Clin Rheumatol (2009) 1.27
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat (2005) 1.15
Novel diagnostic features of dysferlinopathies. Muscle Nerve (2010) 1.12
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology (2011) 0.85
A confusing case of Miyoshi distal myopathy. Muscle Nerve (1995) 0.84
Limb-girdle muscular dystrophy type 2B mimicking polymyositis. Arq Neuropsiquiatr (2008) 0.82
Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Neuromuscul Disord (2006) 0.82
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia (2010) 6.23
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. Nat Genet (2013) 2.60
CD4+CD25bright regulatory T cells actively regulate inflammation in the joints of patients with the remitting form of juvenile idiopathic arthritis. J Immunol (2004) 2.45
Th17 plasticity in human autoimmune arthritis is driven by the inflammatory environment. Proc Natl Acad Sci U S A (2010) 2.43
Interleukin-17-producing T cells are enriched in the joints of children with arthritis, but have a reciprocal relationship to regulatory T cell numbers. Arthritis Rheum (2008) 2.25
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry (2012) 2.05
Methotrexate withdrawal at 6 vs 12 months in juvenile idiopathic arthritis in remission: a randomized clinical trial. JAMA (2010) 2.02
Mitochondrial dysfunction in a long-term rodent model of sepsis and organ failure. Am J Physiol Regul Integr Comp Physiol (2003) 1.95
Blood and synovial fluid cytokine signatures in patients with juvenile idiopathic arthritis: a cross-sectional study. Ann Rheum Dis (2006) 1.95
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study. J Pathol (2010) 1.91
Post-mortem examination of human fetuses: a comparison of whole-body high-field MRI at 9.4 T with conventional MRI and invasive autopsy. Lancet (2009) 1.86
International consensus classification of hippocampal sclerosis in temporal lobe epilepsy: a Task Force report from the ILAE Commission on Diagnostic Methods. Epilepsia (2013) 1.82
Defining Clinical Improvement in Adult and Juvenile Myositis. J Rheumatol (2003) 1.75
B lymphocyte depletion therapy in children with refractory systemic lupus erythematosus. Arthritis Rheum (2005) 1.71
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol (2005) 1.60
Th17 and regulatory T cells: rebalancing pro- and anti-inflammatory forces in autoimmune arthritis. Rheumatology (Oxford) (2009) 1.51
Seizure outcome after extratemporal epilepsy surgery in childhood. Dev Med Child Neurol (2012) 1.43
Essential role for hematopoietic prostaglandin D2 synthase in the control of delayed type hypersensitivity. Proc Natl Acad Sci U S A (2006) 1.43
Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouse. Circulation (2005) 1.38
Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans. Proc Natl Acad Sci U S A (2011) 1.36
High expression of the ectonucleotidase CD39 on T cells from the inflamed site identifies two distinct populations, one regulatory and one memory T cell population. J Immunol (2010) 1.33
Protocols for the initial treatment of moderately severe juvenile dermatomyositis: results of a Children's Arthritis and Rheumatology Research Alliance Consensus Conference. Arthritis Care Res (Hoboken) (2010) 1.32
Disease activity and disability in children with juvenile idiopathic arthritis one year following presentation to paediatric rheumatology. Results from the Childhood Arthritis Prospective Study. Rheumatology (Oxford) (2009) 1.30
A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies. Rheumatology (Oxford) (2010) 1.29
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain (2011) 1.26
Long-term outcome and prognostic factors of juvenile dermatomyositis: a multinational, multicenter study of 490 patients. Arthritis Care Res (Hoboken) (2010) 1.23
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain (2013) 1.19
CD161 defines the subset of FoxP3+ T cells capable of producing proinflammatory cytokines. Blood (2013) 1.17
The Toll-like receptor 4 agonist MRP8/14 protein complex is a sensitive indicator for disease activity and predicts relapses in systemic-onset juvenile idiopathic arthritis. Ann Rheum Dis (2012) 1.16
The PRINTO criteria for clinically inactive disease in juvenile dermatomyositis. Ann Rheum Dis (2012) 1.15
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat (2012) 1.15
Delineation of the innate and adaptive T-cell immune outcome in the human host in response to Campylobacter jejuni infection. PLoS One (2010) 1.13
Duration of etanercept treatment and reasons for discontinuation in a cohort of juvenile idiopathic arthritis patients. Rheumatology (Oxford) (2010) 1.13
MHC Class I overexpression on muscles in early juvenile dermatomyositis. J Rheumatol (2004) 1.13
Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders. Arthritis Rheum (2013) 1.12
Biologic therapy in primary systemic vasculitis of the young. Rheumatology (Oxford) (2009) 1.12
Labeling antigen-specific CD4(+) T cells with class II MHC oligomers. J Immunol Methods (2002) 1.11
Expression of the inflammatory chemokines CCL5, CCL3 and CXCL10 in juvenile idiopathic arthritis, and demonstration of CCL5 production by an atypical subset of CD8+ T cells. Arthritis Res Ther (2006) 1.10
Biologic predictors of extension of oligoarticular juvenile idiopathic arthritis as determined from synovial fluid cellular composition and gene expression. Arthritis Rheum (2010) 1.10
P2X3-immunoreactive nerve fibres in neurogenic detrusor overactivity and the effect of intravesical resiniferatoxin. Eur Urol (2004) 1.10
RAF gene fusions are specific to pilocytic astrocytoma in a broad paediatric brain tumour cohort. Acta Neuropathol (2010) 1.08
Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity. Hum Mutat (2011) 1.08
Mkp1 is a c-Jun target gene that antagonizes JNK-dependent apoptosis in sympathetic neurons. J Neurosci (2010) 1.07
Treatment approaches to juvenile dermatomyositis (JDM) across North America: The Childhood Arthritis and Rheumatology Research Alliance (CARRA) JDM Treatment Survey. J Rheumatol (2010) 1.06
Structural and functional insights of RANKL-RANK interaction and signaling. J Immunol (2010) 1.05
The Paediatric Rheumatology International Trials Organisation provisional criteria for the evaluation of response to therapy in juvenile dermatomyositis. Arthritis Care Res (Hoboken) (2010) 1.05
Adult and juvenile dermatomyositis: are the distinct clinical features explained by our current understanding of serological subgroups and pathogenic mechanisms? Arthritis Res Ther (2013) 1.04
Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta Neuropathol (2012) 1.04
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain (2012) 1.02
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet (2011) 1.02
T2 at MR imaging is an objective quantitative measure of cerebral white matter signal intensity abnormality in preterm infants at term-equivalent age. Radiology (2009) 1.01
Validity of a three-variable Juvenile Arthritis Disease Activity Score in children with new-onset juvenile idiopathic arthritis. Ann Rheum Dis (2012) 1.01
A subgroup of juvenile idiopathic arthritis patients who respond well to methotrexate are identified by the serum biomarker MRP8/14 protein. Rheumatology (Oxford) (2013) 1.01
Disease activity, severity, and damage in the UK Juvenile-Onset Systemic Lupus Erythematosus Cohort. Arthritis Rheum (2012) 1.00
Association of the 5-aminoimidazole-4-carboxamide ribonucleotide transformylase gene with response to methotrexate in juvenile idiopathic arthritis. Ann Rheum Dis (2011) 1.00
Agreement between proxy and adolescent assessment of disability, pain, and well-being in juvenile idiopathic arthritis. J Pediatr (2011) 1.00
Comparison of clinical features and drug therapies among European and Latin American patients with juvenile dermatomyositis. Clin Exp Rheumatol (2011) 0.98
Overexpression of MHC class I heavy chain protein in young skeletal muscle leads to severe myositis: implications for juvenile myositis. Am J Pathol (2009) 0.97
Generation of novel pharmacogenomic candidates in response to methotrexate in juvenile idiopathic arthritis: correlation between gene expression and genotype. Pharmacogenet Genomics (2010) 0.97
Clinicopathological correlations of paediatric lupus nephritis. Pediatr Nephrol (2006) 0.96
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul Disord (2011) 0.96
Upregulation of MHC class I in transgenic mice results in reduced force-generating capacity in slow-twitch muscle. Muscle Nerve (2009) 0.96
Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell. Acta Neuropathol (2010) 0.96
Expression of miRNAs miR-133b and miR-206 in the Il17a/f locus is co-regulated with IL-17 production in αβ and γδ T cells. PLoS One (2011) 0.95
Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome. Mov Disord (2011) 0.95
Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma. Neoplasia (2008) 0.94
Hsp60 in inflamed muscle tissue is the target of regulatory autoreactive T cells in patients with juvenile dermatomyositis. Arthritis Rheum (2008) 0.94
Mothers' reports of the difficulties that their children experience in taking methotrexate for Juvenile Idiopathic Arthritis and how these impact on quality of life. Pediatr Rheumatol Online J (2013) 0.93
Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI. Acta Neuropathol (2012) 0.93
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. J Biol Chem (2012) 0.93
Th1 and Th17 cell subpopulations are enriched in the peripheral blood of patients with systemic juvenile idiopathic arthritis. Rheumatology (Oxford) (2012) 0.92
mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis. Acta Neuropathol (2013) 0.91
Do mothers and fathers hold similar views about their child's arthritis? Arthritis Rheum (2009) 0.90
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. Eur J Hum Genet (2013) 0.90
Validation of relapse risk biomarkers for routine use in patients with juvenile idiopathic arthritis. Arthritis Care Res (Hoboken) (2014) 0.90
T cell expression of granulocyte-macrophage colony-stimulating factor in juvenile arthritis is contingent upon Th17 plasticity. Arthritis Rheumatol (2014) 0.89
Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study. Arthritis Res Ther (2014) 0.89
Paediatric idiopathic inflammatory muscle disease: recognition and management. Drugs (2005) 0.89
Histologically defined central nervous system primitive neuro-ectodermal tumours (CNS-PNETs) display heterogeneous DNA methylation profiles and show relationships to other paediatric brain tumour types. Acta Neuropathol (2013) 0.89
Mycophenolate mofetil treatment in children and adolescents with lupus. Arch Dis Child (2010) 0.88
Urinary monocyte chemoattractant protein-1 correlates with disease activity in lupus nephritis. Pediatr Nephrol (2010) 0.88
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathol (2014) 0.86
Review: Neuropathological features of unexplained sudden unexpected death in infancy: current evidence and controversies. Neuropathol Appl Neurobiol (2014) 0.86
A quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type II. Epilepsia (2013) 0.86
Health-related quality of life of patients with juvenile dermatomyositis: results from the Pediatric Rheumatology International Trials Organisation multinational quality of life cohort study. Arthritis Rheum (2009) 0.86
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul Disord (2012) 0.85
Quantification of normal range of inflammatory changes in morphologically normal pediatric muscle. Muscle Nerve (2008) 0.85
Assessment of active inflammation in juvenile dermatomyositis: a novel magnetic resonance imaging-based scoring system. Rheumatology (Oxford) (2011) 0.85
Quantitative assessments of the effects of a single exercise session on muscles in juvenile dermatomyositis. Arthritis Rheum (2005) 0.85
The immune environment of paediatric solid malignancies: evidence from an immunohistochemical study of clinical cases. Fetal Pediatr Pathol (2013) 0.85
Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias. Epilepsia (2012) 0.85
Mature orbital teratoma presenting as a recurrent orbital cellulitis with an ectopic tooth and sphenoid malformation-a case report. Orbit (2008) 0.84
White matter NAA/Cho and Cho/Cr ratios at MR spectroscopy are predictive of motor outcome in preterm infants. Radiology (2013) 0.84