Published in Eur J Paediatr Neurol on June 12, 2006
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22
HIV Encephalopathy: pediatric case series description and insights from the clinic coalface. AIDS Res Ther (2015) 0.98
Resilience in children diagnosed with a chronic neuromuscular disorder. J Dev Behav Pediatr (2011) 0.87
Poor facial affect recognition among boys with duchenne muscular dystrophy. J Autism Dev Disord (2006) 0.83
Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network. J Dev Behav Pediatr (2015) 0.76
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord (2002) 3.52
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Parent-mediated communication-focused treatment in children with autism (PACT): a randomised controlled trial. Lancet (2010) 2.83
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain (2009) 2.38
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord (2007) 1.80
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
A controlled trial of a training course for parents of children with suspected autism spectrum disorder. J Pediatr (2005) 1.71
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Interventions based on the Theory of Mind cognitive model for autism spectrum disorder (ASD). Cochrane Database Syst Rev (2014) 1.55
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Diagnosing autism spectrum disorders in pre-school children using two standardised assessment instruments: the ADI-R and the ADOS. J Autism Dev Disord (2007) 1.48
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Limb-girdle muscular dystrophies. Curr Opin Neurol (2008) 1.42
Parent-mediated early intervention for young children with autism spectrum disorders (ASD). Cochrane Database Syst Rev (2013) 1.42
Child disability services in Bangladesh. Dev Med Child Neurol (2013) 1.39
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet (2009) 1.37
Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem (2007) 1.37
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J (2007) 1.34
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord (2010) 1.34
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol (2011) 1.32
Preschoolers with autism show greater impairment in receptive compared with expressive language abilities. Int J Lang Commun Disord (2010) 1.31
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry (2009) 1.28
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol (2010) 1.22
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve (2010) 1.21
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat (2003) 1.20
Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve (2013) 1.20
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol (2004) 1.20
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.19
Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail (2009) 1.19
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat (2010) 1.17
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol (2004) 1.17
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One (2013) 1.16
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord (2002) 1.15
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. Eur J Hum Genet (2005) 1.15
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat (2012) 1.15
Can a diagnosis of Asperger syndrome be made in very young children with suspected autism spectrum disorder? J Autism Dev Disord (2005) 1.14
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet (2005) 1.14
MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise. J Magn Reson Imaging (2009) 1.13
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. Hum Mol Genet (2008) 1.12
Analysis of mother-infant interaction in infants with down syndrome and typically developing infants. Am J Ment Retard (2006) 1.11
The reliability and validity of the Social Responsiveness Scale in a UK general child population. Res Dev Disabil (2012) 1.11
Repetitive behaviours in typically developing 2-year-olds. J Child Psychol Psychiatry (2007) 1.10
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis (2013) 1.09
New-onset psychiatric disorders in individuals with autism. Autism (2008) 1.09
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. Neuromuscul Disord (2004) 1.09
157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord (2008) 1.08
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain (2008) 1.07
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J Med Genet (2010) 1.06
The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol (2006) 1.05
Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months. Muscle Nerve (2013) 1.05
The interplay between sensory processing abnormalities, intolerance of uncertainty, anxiety and restricted and repetitive behaviours in autism spectrum disorder. J Autism Dev Disord (2015) 1.04
Molecular treatments in Duchenne muscular dystrophy. Curr Opin Pharmacol (2010) 1.04
Study protocol: longitudinal study of the transition of young people with complex health needs from child to adult health services. BMC Public Health (2013) 1.04
Repetitive behaviour and play in typically developing children and children with autism spectrum disorders. J Autism Dev Disord (2007) 1.03
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. Neuromuscul Disord (2012) 1.02
Restricted and repetitive behaviours, sensory processing and cognitive style in children with autism spectrum disorders. J Autism Dev Disord (2008) 1.01
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol (2004) 1.01
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Hum Mutat (2005) 1.01
Early developmental regression in autism spectrum disorder: evidence from an international multiplex sample. J Autism Dev Disord (2011) 1.01
Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol (2008) 1.01
One-year change in repetitive behaviours in young children with communication disorders including autism. J Autism Dev Disord (2008) 1.00
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord (2004) 0.99
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease. Clin Rehabil (2013) 0.99
Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am (2012) 0.98
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? Neuromuscul Disord (2008) 0.98
Emotional and behavioural problems in children with autism spectrum disorder. J Autism Dev Disord (2013) 0.98
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet (2008) 0.97
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13. Ann Neurol (2002) 0.96
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol (2013) 0.96
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat (2014) 0.95
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat (2013) 0.95
Anxiety and repetitive behaviours in autism spectrum disorders and williams syndrome: a cross-syndrome comparison. J Autism Dev Disord (2012) 0.95
Restricted and repetitive behaviors in autism spectrum disorders and typical development: cross-sectional and longitudinal comparisons. J Autism Dev Disord (2014) 0.94
Treatment mechanism in the MRC preschool autism communication trial: implications for study design and parent-focussed therapy for children. J Child Psychol Psychiatry (2014) 0.93