Published in Int J Cardiol on June 08, 2006
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
Validation of the ABCD score in identifying individuals at high early risk of stroke after a transient ischemic attack: a hospital-based case series study. Stroke (2006) 1.67
Resistance exercise-induced increase in muscle mass correlates with p70S6 kinase phosphorylation in human subjects. Eur J Appl Physiol (2007) 1.61
Diabetes mellitus associated with glycogen storage disease type III. Muscle Nerve (2009) 1.45
Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab (2011) 0.96
The degree of p70 S6k and S6 phosphorylation in human skeletal muscle in response to resistance exercise depends on the training volume. Eur J Appl Physiol (2010) 0.92
Morphometric study of the human muscle spindle. Anal Quant Cytol Histol (2005) 0.87
Throwing performance after resistance training and detraining. J Strength Cond Res (2008) 0.86
Presymptomatic neuromuscular disorders disclosed following statin treatment. Arch Intern Med (2006) 0.86
Bone density in patients with late onset Pompe disease. Int J Endocrinol Metab (2012) 0.85
Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy. J Clin Neurosci (2009) 0.84
Acute coronary syndrome in an adult with anomalous origin of the left anterior descending coronary artery from the pulmonary trunk. Int J Cardiol (2007) 0.84
Dropped head syndrome as prominent clinical feature in MuSK-positive Myasthenia Gravis with thymus hyperplasia. Neuromuscul Disord (2007) 0.83
Fiber type composition and capillary density in relation to submaximal number of repetitions in resistance exercise. J Strength Cond Res (2008) 0.83
Age-related morphometric characteristics of human skeletal muscle in male subjects. Pol J Pathol (2009) 0.83
Prevention of traumatic headache, dizziness and fatigue with creatine administration. A pilot study. Acta Paediatr (2007) 0.82
Bupivacaine-induced regeneration of rat soleus muscle: ultrastructural and immunohistochemical aspects. Ultrastruct Pathol (2006) 0.82
Coinheritance of Noonan syndrome and Becker muscular dystrophy. Neuromuscul Disord (2009) 0.82
Danon disease: further clinical and molecular heterogeneity. Muscle Nerve (2009) 0.81
Gestational diabetes exhibits lack of carnitine deficiency despite relatively low carnitine levels and alterations in ketogenesis. J Matern Fetal Neonatal Med (2005) 0.81
Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol. Mol Cell Probes (2005) 0.81
Serum carnitine levels in childhood leukemia. J Pediatr Hematol Oncol (2010) 0.81
Acute effect of drop jumping on throwing performance. J Strength Cond Res (2009) 0.80
Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab (2012) 0.80
Neuromotor outcomes in infants with bronchopulmonary dysplasia. Pediatr Neurol (2011) 0.79
Muscle fibre type composition and body composition in hammer throwers. J Sports Sci Med (2010) 0.79
Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC. Muscle Nerve (2011) 0.79
Meningioangiomatosis with predominantly cellular pattern. Neuropathology (2003) 0.79
Effects of Strength vs. Ballistic-Power Training on Throwing Performance. J Sports Sci Med (2013) 0.78
Increased Urinary Excretion of Podocyte Markers in Normoalbuminuric Patients with Diabetes. Nephron (2015) 0.78
Caveolinopathies in Greece. Neurologist (2015) 0.77
Toward understanding cognitive impairment in patients with myotonic dystrophy type 1. Arch Clin Neuropsychol (2010) 0.77
Increased dysferlin expression in Duchenne muscular dystrophy. Anal Quant Cytopathol Histpathol (2014) 0.77
Bent spine syndrome in facioscapulohumeral muscular dystrophy. Muscle Nerve (2011) 0.76
Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation. FEBS J (2014) 0.76
OX40-OX40L expression in idiopathic inflammatory myopathies. Anal Quant Cytopathol Histpathol (2013) 0.76
Neurological outcome in preterm small for gestational age infants compared to appropriate for gestational age preterm at the age of 18 months: a prospective study. J Child Neurol (2009) 0.76
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. Am J Med Genet A (2008) 0.75
Re: Consider muscle disease in children with elevated transaminase. J Am Board Fam Med (2012) 0.75
Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family. Neurologist (2009) 0.75
Pretreatment antibodies against acid α-glycosidase in a patient with late-onset Pompe disease. Muscle Nerve (2012) 0.75
Phenotypic variability and molecular genetics in proximal myotonic myopathy. Muscle Nerve (2015) 0.75
Delayed contrast enhancement on cardiac MRI unmasks subclinical cardiomyopathy in a case of myotonic dystrophy type 2. Hellenic J Cardiol (2012) 0.75
Decreased cortical excitability due to a large venous angioma. Pediatr Neurol (2006) 0.75
Karyometric changes of intrafusal muscle fibers in neuromuscular diseases. Anal Quant Cytol Histol (2008) 0.75
Development of subdural effusions in association with pyruvate dehydrogenase deficiency. Eur Radiol (2005) 0.75
Cardiac Manifestations in Children with Inborn Errors of Metabolism. Indian Pediatr (2017) 0.75
Sarcoidosis in a case of MuSK-positive myasthenia gravis. Neuromuscul Disord (2008) 0.75
Strabismus and nystagmus in a 4-year-old boy. Pediatr Ann (2008) 0.75
Cochlear dysfunction in patients with mitochondrial myopathy. ORL J Otorhinolaryngol Relat Spec (2002) 0.75
Childhood malignant diseases: which is the carnitine's role? J Pediatr Hematol Oncol (2007) 0.75
Cognitive impairment and cerebellar atrophy in typical onset 4Q35 fascioscapulohumeral dystrophy. Muscle Nerve (2008) 0.75