Published in J Paediatr Child Health on September 04, 2007
Quality of life in rare genetic conditions: a systematic review of the literature. Am J Med Genet A (2010) 0.95
Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe. Eur J Health Econ (2016) 0.75
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol (2011) 2.44
Movement-related changes in synchronization in the human basal ganglia. Brain (2002) 2.15
Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis. Brain (2003) 2.11
Clinical-neurophysiological correlations in a series of patients with IgM-related neuropathy. Clin Neurophysiol (2013) 2.03
Nerve ultrasound findings in two cases of spinal accessory nerve palsy. Muscle Nerve (2014) 2.00
Sudden stopping in patients with cerebellar ataxia. Cerebellum (2013) 1.97
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy. J Am Coll Cardiol (2003) 1.72
Ultrasound as the first choice for peripheral nerve imaging? Neurology (2013) 1.57
Deconvolution-based assessment of pituitary GH secretion stimulated with GHRH+arginine in Prader-Willi adults and obese controls. Clin Endocrinol (Oxf) (2013) 1.48
International conferences on rare diseases: initiatives in commitment, patient care and connections. Med J Aust (2007) 1.44
A dynamic ultrasonographic evaluation of the palmaris anomalous muscle. Clin Anat (2010) 1.40
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis (2012) 1.34
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
Carpal tunnel syndrome modifies sensory hand cortical somatotopy: a MEG study. Hum Brain Mapp (2002) 1.19
Multi-center assessment of the Total Neuropathy Score for chemotherapy-induced peripheral neurotoxicity. J Peripher Nerv Syst (2006) 1.15
Comparison between beta-cell function and insulin resistance indexes in prepubertal and pubertal obese children. Metabolism (2002) 1.14
Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors. Cancer Genet Cytogenet (2005) 1.14
Treatment for ulnar neuropathy at the elbow. Cochrane Database Syst Rev (2012) 1.14
The need for worldwide policy and action plans for rare diseases. Acta Paediatr (2012) 1.13
Identification of key regions and genes important in the pathogenesis of sezary syndrome by combining genomic and expression microarrays. Cancer Res (2009) 1.10
Comment on: "Ulnar Tunnel Syndrome with Ultrasonographic Nerve Imaging". Pain Physician (2015) 1.08
Altered microRNA Expression Patterns in Hepatoblastoma Patients. Transl Oncol (2009) 1.07
Report of an international survey of molecular genetic testing laboratories. Community Genet (2007) 1.04
Unmasking of presynaptic and postsynaptic high-frequency oscillations in epidural cervical somatosensory evoked potentials during voluntary movement. Clin Neurophysiol (2007) 1.03
Focal muscle vibration in the treatment of upper limb spasticity: a pilot randomized controlled trial in patients with chronic stroke. Arch Phys Med Rehabil (2012) 1.02
Multicenter study of peroneal mononeuropathy: clinical, neurophysiologic, and quality of life assessment. J Peripher Nerv Syst (2005) 1.01
Health-related quality of life and disability in young patients with spina bifida. Arch Phys Med Rehabil (2002) 1.01
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2009) 1.01
Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation. Exp Dermatol (2011) 1.00
Strength characterization of knee flexor and extensor muscles in Prader-Willi and obese patients. BMC Musculoskelet Disord (2009) 0.99
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]. Pharmacol Res (2006) 0.99
Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects). J Neuroeng Rehabil (2007) 0.98
Treatment for ulnar neuropathy at the elbow. Cochrane Database Syst Rev (2011) 0.98
Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study. Health Policy (2012) 0.97
EQUAL-qual: a European program for external quality assessment of genomic DNA extraction and PCR amplification. Clin Chem (2007) 0.97
Everything you always wanted to know about nerve, but were afraid to ask. Clin Neurophysiol (2012) 0.97
Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. J Peripher Nerv Syst (2008) 0.97
Carpal tunnel syndrome in elderly patients: results of surgical decompression. J Peripher Nerv Syst (2004) 0.96
Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006). Orphanet J Rare Dis (2011) 0.96
US imaging of the musculocutaneous nerve. Skeletal Radiol (2010) 0.95
Bilateral hand/wrist heat and cold hyperalgesia, but not hypoesthesia, in unilateral carpal tunnel syndrome. Exp Brain Res (2009) 0.95
Cut-off limits of the GH response to GHRH plus arginine test and IGF-I levels for the diagnosis of GH deficiency in late adolescents and young adults. Eur J Endocrinol (2007) 0.94
Brachial plexus and nerves about the shoulder. Semin Musculoskelet Radiol (2010) 0.94
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. Am J Phys Med Rehabil (2011) 0.94
Diagnosis and therapy of myasthenia gravis with antibodies to muscle-specific kinase. Autoimmun Rev (2013) 0.93
Physicians' knowledge of health-related quality of life and perception of its importance in daily clinical practice. Health Qual Life Outcomes (2010) 0.93
Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr (2012) 0.93
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. J Inherit Metab Dis (2010) 0.93
Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. Am J Med Genet A (2010) 0.93
High-resolution sonography of the palmar cutaneous branch of the median nerve. AJR Am J Roentgenol (2008) 0.92
Sonographic features in hereditary neuropathy with liability to pressure palsies. Muscle Nerve (2012) 0.92
Median nerve ultrasonography in carpal tunnel syndrome: findings from two laboratories. Muscle Nerve (2009) 0.91
Reliability of side-to-side ultrasound cross-sectional area measurements of lower extremity nerves in healthy subjects. Muscle Nerve (2012) 0.91
On the origin of sensory impairment and altered pain perception in Prader-Willi syndrome: a neurophysiological study. Eur J Pain (2008) 0.91
Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis. Eur J Pediatr (2010) 0.91
Occupational exposure to antineoplastic agents induces a high level of chromosome damage. Lack of an effect of GST polymorphisms. Toxicol Appl Pharmacol (2007) 0.90
Maternal diet and the risk of hypospadias and cryptorchidism in the offspring. Paediatr Perinat Epidemiol (2008) 0.90
Mechanisms of neuropathic pain in patients with Charcot-Marie-Tooth 1 A: a laser-evoked potential study. Pain (2010) 0.90
Outcome of surgical release among diabetics with carpal tunnel syndrome. Arch Phys Med Rehabil (2004) 0.90
Abnormal brain processing of cutaneous pain in patients with chronic migraine. Pain (2003) 0.90
Prevalence of bifid median nerve at wrist assessed through ultrasound. Neurol Sci (2011) 0.89
Investigating the neurobiology of music: brain-derived neurotrophic factor modulation in the hippocampus of young adult mice. Behav Pharmacol (2007) 0.89
Single-nucleotide polymorphisms in BER and HRR genes, XRCC1 haplotypes and breast cancer risk in Caucasian women. J Cancer Res Clin Oncol (2010) 0.89
Nerve ultrasound follow-up in a child with Guillain-Barré syndrome. Muscle Nerve (2012) 0.89
Relationship between the clinical-neurophysiologic pattern, disability, and quality of life in adolescents with spina bifida. J Child Neurol (2004) 0.89
Short-term plastic changes of the human nociceptive system following acute pain induced by capsaicin. Clin Neurophysiol (2003) 0.88
Gait pattern in inherited cerebellar ataxias. Cerebellum (2012) 0.88
Intracapsular osteochondroma of the humeral head in an adult causing restriction of motion: a case report. J Shoulder Elbow Surg (2009) 0.88
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity. Clin Chem Lab Med (2007) 0.88
The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. Am J Med Genet A (2008) 0.88
Ultrasound of Focal Neuropathies. J Clin Neurophysiol (2016) 0.88
Prevalence of primary focal or segmental dystonia in adults in the district of foggia, southern Italy: a service-based study. Neuroepidemiology (2009) 0.87
Endocrine autoimmunity in Turner syndrome. Ital J Pediatr (2013) 0.87
Music exposure differentially alters the levels of brain-derived neurotrophic factor and nerve growth factor in the mouse hypothalamus. Neurosci Lett (2007) 0.87
Four-week trunk-specific rehabilitation treatment improves lateral trunk flexion in Parkinson's disease. Mov Disord (2010) 0.87
alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy. Neuromuscul Disord (2004) 0.87
Diagnosis of GH deficiency in the transition period: accuracy of insulin tolerance test and insulin-like growth factor-I measurement. Eur J Endocrinol (2005) 0.86
Molecular biomonitoring of a population of nurses handling antineoplastic drugs. Mutat Res (2007) 0.86
US diagnosis of sciatic nerve tumor proximal to gluteal fold. Neurol Sci (2014) 0.86
Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome. Clin Endocrinol (Oxf) (2012) 0.85
Health-related quality of life and subjective outcome after shoulder replacement for proximal humeral fractures. J Shoulder Elbow Surg (2008) 0.85
Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity. BMC Med Genet (2009) 0.85
Effectiveness of a 6-month home-based training program in Prader-Willi patients. Res Dev Disabil (2010) 0.85
A 2-year pilot trial of continuous subcutaneous insulin infusion versus intensive insulin therapy in patients with newly diagnosed type 1 diabetes (IMDIAB 8). Diabetes Technol Ther (2003) 0.85
The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey. Genet Test (2008) 0.85
The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey. Genet Test Mol Biomarkers (2009) 0.84
Quality of life and disability assessment in neuropathy: a multicentre study. J Peripher Nerv Syst (2005) 0.84
Lower limb antagonist muscle co-activation and its relationship with gait parameters in cerebellar ataxia. Cerebellum (2014) 0.84
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation. Pediatr Diabetes (2012) 0.84
The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients. Res Dev Disabil (2011) 0.84
Systematic review of metformin use in obese nondiabetic children and adolescents. Horm Res Paediatr (2013) 0.84