Published in Dev Med Child Neurol on June 19, 2012
Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy. Ann Transl Med (2015) 1.45
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The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys. PLoS Curr (2014) 0.86
International workshop on assessment of upper limb function in Duchenne Muscular Dystrophy: Rome, 15-16 February 2012. Neuromuscul Disord (2012) 0.84
Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve (2015) 0.82
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. Neuromuscul Disord (2015) 0.82
Wrist flexion and extension torques measured by highly sensitive dynamometer in healthy subjects from 5 to 80 years. BMC Musculoskelet Disord (2015) 0.78
Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials. J Neuromuscul Dis (2016) 0.76
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment. PLoS One (2016) 0.75
Reachable workspace and performance of upper limb (PUL) in duchenne muscular dystrophy. Muscle Nerve (2015) 0.75
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. Neuromuscul Disord (2016) 0.75
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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
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Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti-N-methyl-D-aspartate receptor encephalitis. Dev Med Child Neurol (2009) 1.67
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol (2003) 1.64
Hand movements at 3 months predict later hemiplegia in term infants with neonatal cerebral infarction. Dev Med Child Neurol (2009) 1.56
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve (2014) 1.41
The forward parachute reaction and independent walking in infants with brain lesions. Dev Med Child Neurol (2011) 1.39
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet (2005) 1.38
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function. Dev Med Child Neurol (2005) 1.38
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
Development of a functional assessment scale for ambulatory boys with Duchenne muscular dystrophy. Physiother Res Int (2011) 1.31
Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy. Dev Med Child Neurol (2013) 1.30
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
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
A new approach for neurological evaluation of infants in resource-poor settings. Ann Trop Paediatr (2002) 1.17
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology (2012) 1.17
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord (2004) 1.10
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. Am J Med Genet A (2009) 1.10
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. Eur J Paediatr Neurol (2011) 1.09
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet A (2011) 1.08
Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol (2002) 1.08
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. Orphanet J Rare Dis (2013) 1.06
Magnetic resonance image correlates of hemiparesis after neonatal and childhood middle cerebral artery stroke. Pediatrics (2005) 1.03
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet (2010) 1.02
Electroclinical patterns and evolution of epilepsy in the 4p- syndrome. Epilepsia (2003) 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 MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord (2004) 0.99
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol (2011) 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
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
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case. Epilepsia (2009) 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
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord (2013) 0.95
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet (2010) 0.95
Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord (2011) 0.94
Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts. Mol Ther (2012) 0.93
Visual function at 35 and 40 weeks' postmenstrual age in low-risk preterm infants. Pediatrics (2008) 0.93
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat (2009) 0.92
Use of complementary and alternative medicine in epilepsy. Curr Neurol Neurosci Rep (2006) 0.92
The Dubowitz neurological examination of the full-term newborn. Ment Retard Dev Disabil Res Rev (2005) 0.91
Neuropsychological development in children with Dravet syndrome. Epilepsy Res (2011) 0.91
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures. BMC Neurol (2012) 0.90
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. J Pediatr (2012) 0.89
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. J Med Genet (2010) 0.89
Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve (2013) 0.89
Visual development in infants with prenatal post-haemorrhagic ventricular dilatation. Arch Dis Child Fetal Neonatal Ed (2006) 0.89
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. Neuromuscul Disord (2012) 0.88
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. Am J Med Genet A (2012) 0.88
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat (2014) 0.88
Neurodevelopmental outcome at 12 and 18 months in late preterm infants. Eur J Paediatr Neurol (2010) 0.88
Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord (2008) 0.87
SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe. Orphanet J Rare Dis (2013) 0.87
Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. Neuromuscul Disord (2010) 0.87
Visual performance and brain structures in the developing brain of pre-term infants. Early Hum Dev (2010) 0.87