Published in Neuromuscul Disord on October 01, 2012
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The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Probabilistic diffusion tractography of the optic radiations and visual function in preterm infants at term equivalent age. Brain (2008) 1.26
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet (2012) 1.25
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord (2010) 1.24
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve (2010) 1.21
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. Dev Med Child Neurol (2012) 1.20
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Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One (2013) 1.16
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat (2012) 1.15
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
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Fat quantification and T2 measurement. Pediatr Radiol (2014) 1.13
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord (2004) 1.10
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The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. Eur J Paediatr Neurol (2011) 1.09
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Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain (2008) 1.07
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Magnetic resonance image correlates of hemiparesis after neonatal and childhood middle cerebral artery stroke. Pediatrics (2005) 1.03
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet (2012) 1.02
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet (2010) 1.02
Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1-2 October 2009, Paris, France. Neuromuscul Disord (2012) 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
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. Neuromuscul Disord (2005) 1.01
Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol (2008) 1.01
Thalamic atrophy in infants with PVL and cerebral visual impairment. Early Hum Dev (2006) 1.00
Spinal muscular atrophy. Orphanet J Rare Dis (2011) 1.00
Daily salbutamol in young patients with SMA type II. Neuromuscul Disord (2008) 1.00
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol (2011) 0.98
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? Neuromuscul Disord (2008) 0.98
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain (2007) 0.98
TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy. Neuromuscul Disord (2012) 0.98
Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord (2013) 0.97
Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen. Hum Gene Ther Methods (2012) 0.97
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
Natural history of pulmonary function in collagen VI-related myopathies. Brain (2013) 0.97
Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord (2004) 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