Published in Epilepsy Res on November 24, 2010
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Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis (2012) 2.46
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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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
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Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys. Am J Med Genet A (2010) 1.50
Sleep-related, low voltage Rolandic and vertex spikes: an EEG marker of benignity in infancy-onset focal epilepsies. Epileptic Disord (2002) 1.46
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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
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24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
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PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology (2012) 1.28
Probabilistic diffusion tractography of the optic radiations and visual function in preterm infants at term equivalent age. Brain (2008) 1.26
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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia (2007) 1.21
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet (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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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
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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
Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol (2002) 1.08
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Magnetic resonance image correlates of hemiparesis after neonatal and childhood middle cerebral artery stroke. Pediatrics (2005) 1.03
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A (2011) 1.02
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
Electrical and autonomic cardiac function in patients with Dravet syndrome. Epilepsia (2011) 1.01
Consensus on diagnosis and management of JME: From founder's observations to current trends. Epilepsy Behav (2013) 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
TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis (2014) 0.99
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol (2011) 0.98
Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab Dis (2014) 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
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case. Epilepsia (2009) 0.96
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
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
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat (2006) 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
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. J Inherit Metab Dis (2011) 0.92
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LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. Anal Chem (2011) 0.91
The Dubowitz neurological examination of the full-term newborn. Ment Retard Dev Disabil Res Rev (2005) 0.91
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. Am J Med Genet A (2012) 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
Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve (2013) 0.89