Published in Neurol Sci on December 17, 2009
Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases. Neurology (2014) 0.90
Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy. F1000Res (2014) 0.86
Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspective. Neuromuscul Disord (2014) 0.80
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc (2016) 0.75
The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care (1992) 144.02
The Italian SF-36 Health Survey: translation, validation and norming. J Clin Epidemiol (1998) 3.55
Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology (2005) 3.44
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med (2004) 1.86
Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study. Arch Neurol (2003) 1.42
Perplexity about the use of the Charcot-Marie-Tooth Neuropathy Score in rehabilitation. Eur J Phys Rehabil Med (2008) 1.40
Outcomes measurements. J Bone Joint Surg Am (1993) 1.38
136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands. Neuromuscul Disord (2006) 1.05
Sorting out the inherited neuropathies. Pract Neurol (2007) 1.05
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
Natural history of CMT1A including QoL: a 2-year prospective study. Neuromuscul Disord (2008) 0.99
131st ENMC international workshop: selection of outcome measures for peripheral neuropathy clinical trials 10-12 December 2004, Naarden, The Netherlands. Neuromuscul Disord (2006) 0.94
Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it? Neurology (2005) 0.89
Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis. Muscle Nerve (1999) 0.87
Motor and functional recovery after stroke: accuracy of physical therapists' predictions. Arch Phys Med Rehabil (1989) 0.83
Experimental therapeutics in hereditary neuropathies: the past, the present, and the future. Neurotherapeutics (2008) 0.76
The use of Charcot-Marie-Tooth Neuropathy Score. Eur J Phys Rehabil Med (2009) 0.75
[The Beck Depression Inventory in psychosomatic research]. Minerva Psichiatr (1985) 0.75
Dopamine dependency of oscillations between subthalamic nucleus and pallidum in Parkinson's disease. J Neurosci (2001) 3.18
Natural history of young-adult amyotrophic lateral sclerosis. Neurology (2008) 3.13
Methyl glyoxal bis(guanylhydrazone) as a potent inhibitor of mammalian and yeast S-adenosylmethionine decarboxylases. Biochem Biophys Res Commun (1972) 2.98
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet (2000) 2.96
Magnetic transcranial stimulation at intensities below active motor threshold activates intracortical inhibitory circuits. Exp Brain Res (1998) 2.90
Paired helical filaments from Alzheimer disease patients contain cytoskeletal components. Proc Natl Acad Sci U S A (1985) 2.86
Critical illness myopathy and neuropathy. Lancet (1996) 2.71
Short latency inhibition of human hand motor cortex by somatosensory input from the hand. J Physiol (2000) 2.41
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
Effects of voluntary contraction on descending volleys evoked by transcranial stimulation in conscious humans. J Physiol (1998) 2.17
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol (1999) 1.95
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci (2004) 1.92
Comparison of descending volleys evoked by transcranial magnetic and electric stimulation in conscious humans. Electroencephalogr Clin Neurophysiol (1998) 1.90
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2000) 1.84
Direct demonstration of the effect of lorazepam on the excitability of the human motor cortex. Clin Neurophysiol (2000) 1.80
Contribution of ultrasound in a neurophysiological lab in diagnosing nerve impairment: A one-year systematic assessment. Clin Neurophysiol (2007) 1.79
Activation of nuclear factor-kappaB in inflammatory myopathies and Duchenne muscular dystrophy. Neurology (2003) 1.74
Direct demonstration of interhemispheric inhibition of the human motor cortex produced by transcranial magnetic stimulation. Exp Brain Res (1999) 1.69
Multiperspective follow-up of untreated carpal tunnel syndrome: a multicenter study. Neurology (2001) 1.68
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology (2001) 1.68
Multiple sclerosis associated with duplicated CMT1A: a report of two cases. J Neurol Neurosurg Psychiatry (1997) 1.67
Chronic subthalamic nucleus stimulation reduces medication requirements in Parkinson's disease. Neurology (1999) 1.66
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. Neurology (2000) 1.64
Multicenter study on carpal tunnel syndrome and pregnancy incidence and natural course. Acta Neurochir Suppl (2005) 1.61
Is in utero early-exposure to interferon beta a risk factor for pregnancy outcomes in multiple sclerosis? J Neurol (2008) 1.59
Analysis of blink rate patterns in normal subjects. Mov Disord (1997) 1.57
Apoptotic features accompany acute quadriplegic myopathy. Neurology (2000) 1.57
Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands. Acta Neurol Scand (1997) 1.57
The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings. Ann Oncol (2012) 1.57
The role of muscle biopsy in investigating isolated muscle pain. Neurology (2007) 1.54
Clinical characteristics and prognosis of myasthenia gravis in older people. J Am Geriatr Soc (2000) 1.48
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. Neurol Sci (2006) 1.48
Mononeuropathy of a distal branch of the femoral nerve in a body building champion. J Neurol Neurosurg Psychiatry (1997) 1.47
Outcome research and patient-oriented measures in the multiperspective assessment of neurological and musculoskeletal disorders. Consensus Conference: Third Roman Neurophysiology Day, Outcome Research in Neurology and in Musculoskeletal Disorders--24 October 1998. Ital J Neurol Sci (1999) 1.47
Axonal swellings predict the degeneration of epidermal nerve fibers in painful neuropathies. Neurology (2003) 1.46
A systematic review of conservative treatment of carpal tunnel syndrome. Clin Rehabil (2007) 1.46
Peripheral nerve involvement in Churg-Strauss syndrome. J Neurol (1992) 1.44
Lumbar disk herniation: MR imaging assessment of natural history in patients treated without surgery. Radiology (1992) 1.42
Muscarinic receptor blockade has differential effects on the excitability of intracortical circuits in the human motor cortex. Exp Brain Res (2000) 1.42
Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci (1999) 1.42
Pretarsal injections of botulinum toxin improve blepharospasm in previously unresponsive patients. J Neurol Neurosurg Psychiatry (1996) 1.41
Peripheral neuropathy as the presenting feature of multiple system atrophy. Clin Auton Res (2001) 1.39
Teaching NeuroImages: the full-blown neuroimaging of Wernicke encephalopathy. Neurology (2009) 1.39
Intracortical origin of the short latency facilitation produced by pairs of threshold magnetic stimuli applied to human motor cortex. Exp Brain Res (1999) 1.38
Carbamazepine for paroxysmal dystonia due to spinal cord lesions. Ital J Neurol Sci (1993) 1.38
Occurrence of nerve entrapment lesion in chronic inflammatory demyelinating polyneuropathy. Clin Neurophysiol (2004) 1.38
A useful electrophysiological test for diagnosis of minimal conduction block. Clin Neurophysiol (2001) 1.38
New aspects of polyamine biosynthesis in eukaryotic organisms. Adv Enzyme Regul (1972) 1.37
Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol (2008) 1.35
The effect on corticospinal volleys of reversing the direction of current induced in the motor cortex by transcranial magnetic stimulation. Exp Brain Res (2001) 1.34
Inhibition of lymphocytic neuropathy target esterase predicts the development of organophosphate-induced delayed polyneuropathy. Arch Toxicol (1986) 1.34
Thalidomide sensory neurotoxicity: a clinical and neurophysiologic study. Neurology (2004) 1.30
Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism. Thyroid (1998) 1.25
Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis. J Clin Invest (1999) 1.25
[On the neuromuscular block caused by intra-arterial injection of acetylcholine. Effects of preliminary treatment with ACTH]. Riv Neurol (1971) 1.24
168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord (2010) 1.23
Muscle rearrangement in patients with hemiparesis after stroke: an electrophysiological and morphological study. Eur Neurol (1993) 1.21
Neurophysiological assessment in the diagnosis of botulism: usefulness of single-fiber EMG. Muscle Nerve (1999) 1.21
Effects of lorazepam on short latency afferent inhibition and short latency intracortical inhibition in humans. J Physiol (2005) 1.17
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology (2007) 1.16
Stiff-man syndrome associated with nocturnal myoclonus and epilepsy. J Neurol Neurosurg Psychiatry (1978) 1.16
Neuroaxonal dystrophy with dystonia and pallidal involvement. Neuropediatrics (1999) 1.16
Specific inhibition of the enzymic decarboxylation of S-adenosylmethionine by methylglyoxal bis(guanylhydrazone) and related substances. Biochem J (1974) 1.15
A fuzzy clustering based segmentation system as support to diagnosis in medical imaging. Artif Intell Med (1999) 1.15
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology (2006) 1.15
Reduced habituation to experimental pain in migraine patients: a CO(2) laser evoked potential study. Pain (2003) 1.14
Cardiovascular-reflex testing and single-fiber electromyography in botulism. A longitudinal study. Arch Neurol (1987) 1.14
Hereditary neuropathy with liability to pressure palsies: electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation. Neurol Sci (2003) 1.13
Suprascapular nerve entrapment. Neurophysiological localization in 6 cases. Acta Orthop Scand (1996) 1.13
Botulinum toxin therapy: distant effects on neuromuscular transmission and autonomic nervous system. J Neurol Neurosurg Psychiatry (1992) 1.13
Separation of two proteins required for synthesis of spermidine from S-adenosyl-L-methionine and putrescine in rat prostate. Biochem Biophys Res Commun (1971) 1.13
Long-term follow up of subthalamic nucleus stimulation in Parkinson's disease. Neurology (2002) 1.13
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. Neurology (1998) 1.12
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. Neuromuscul Disord (2007) 1.11
Eclamptic encephalopathy: imaging and pathogenetic considerations. Acta Neurol Scand (1997) 1.11
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology (1991) 1.10
Incidence of bilateral symptoms in carpal tunnel syndrome. J Hand Surg Br (1998) 1.10
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. J Biol Chem (2000) 1.10
Activation of NF-kappaB and c-jun transcription factors in multiple sclerosis lesions. Implications for oligodendrocyte pathology. Am J Pathol (1999) 1.10
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates. Brain (1994) 1.10
pH-dependent prion protein conformation in classical Creutzfeldt-Jakob disease. J Biol Chem (2001) 1.10
Myasthenia gravis during interferon alfa therapy. Neurology (1995) 1.10
Assessment of health status in children with spina bifida. Spinal Cord (2005) 1.09