Lucio Santoro

Author PubWeight™ 68.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 2011 2.44
2 Predictors of recovery of responsiveness in prolonged anoxic vegetative state. Neurology 2013 2.26
3 Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial. Lancet Neurol 2012 1.95
4 Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet 2012 1.88
5 Neuropathy and levodopa in Parkinson's disease: evidence from a multicenter study. Mov Disord 2013 1.62
6 Ross syndrome: a rare or a misknown disorder of thermoregulation? A skin innervation study on 12 subjects. Brain 2006 1.55
7 Quantification of myelinated endings and mechanoreceptors in human digital skin. Ann Neurol 2003 1.44
8 Case of acute motor conduction block neuropathy (AMCBN). Muscle Nerve 2009 1.43
9 Sensory deficit in Parkinson's disease: evidence of a cutaneous denervation. Brain 2008 1.43
10 Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. J Child Neurol 2005 1.40
11 Myelinated nerve endings in human skin. Muscle Nerve 2007 1.30
12 Skin sympathetic adrenergic innervation: an immunofluorescence confocal study. Ann Neurol 2006 1.26
13 A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve 2010 1.15
14 The glycopeptide CSF114(Glc) detects serum antibodies in multiple sclerosis. J Neuroimmunol 2005 1.13
15 The heterogeneity of early Parkinson's disease: a cluster analysis on newly diagnosed untreated patients. PLoS One 2013 1.09
16 Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. J Med Genet 2012 1.07
17 Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain 2013 1.05
18 Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat 2005 1.01
19 Tremor in primary adult-onset dystonia: prevalence and associated clinical features. J Neurol Neurosurg Psychiatry 2012 0.99
20 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
21 Validation of the Italian version of the Neuropathic Pain Symptom Inventory in peripheral nervous system diseases. Neurol Sci 2009 0.98
22 Serum epidermal growth factor predicts cognitive functions in early, drug-naive Parkinson's disease patients. J Neurol 2012 0.98
23 Electrophysiological characterisation in hereditary spastic paraplegia type 5. Clin Neurophysiol 2010 0.96
24 Evolution of gastric electrical features and gastric emptying in children with Duchenne and Becker muscular dystrophy. Am J Gastroenterol 2005 0.96
25 Cutaneous innervation of the human face as assessed by skin biopsy. J Anat 2012 0.96
26 Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 2013 0.95
27 Adult-onset Alexander disease : report on a family. J Neurol 2007 0.93
28 Blockade of glutamate mGlu5 receptors in a rat model of neuropathic pain prevents early over-expression of pro-apoptotic genes and morphological changes in dorsal horn lamina II. Neuropharmacology 2004 0.93
29 Ross syndrome: a lesson from a monozygotic twin pair. Neurology 2013 0.93
30 Functional involvement of central cholinergic circuits and visual hallucinations in Parkinson's disease. Brain 2009 0.92
31 Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study. J Neurol 2002 0.92
32 Brain damage in glycogen storage disease type I. J Pediatr 2004 0.92
33 The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol 2005 0.89
34 Link between non-motor symptoms and cognitive dysfunctions in de novo, drug-naive PD patients. J Neurol 2012 0.88
35 Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. Neuromuscul Disord 2002 0.87
36 Age at onset and symptom spread in primary adult-onset blepharospasm and cervical dystonia. Mov Disord 2012 0.86
37 The combined treatment with orbital and pretarsal botulinum toxin injections in the management of poorly responsive blepharospasm. Neurol Sci 2013 0.86
38 In vivo confocal microscopy of meissner corpuscles as a measure of sensory neuropathy. Neurology 2008 0.85
39 Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration. Clin Neurophysiol 2007 0.85
40 Eye symptoms in relatives of patients with primary adult-onset dystonia. Mov Disord 2011 0.85
41 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. J Peripher Nerv Syst 2014 0.85
42 Neuropsychologic assessment and cognitive rehabilitation in a patient with locked-in syndrome and left neglect. Arch Phys Med Rehabil 2010 0.84
43 Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction? Mov Disord 2008 0.84
44 Neuropathy in idiopathic Parkinson disease: an iatrogenic problem? Ann Neurol 2011 0.84
45 Gender differences in non-motor symptoms in early, drug naïve Parkinson's disease. J Neurol 2013 0.83
46 Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease). Muscle Nerve 2007 0.83
47 Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy. Arch Neurol 2011 0.82
48 Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy. J Neurol 2011 0.82
49 Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A. Neuromuscul Disord 2013 0.81
50 Somatosensory temporal discrimination threshold is increased in patients with cerebellar atrophy. Cerebellum 2013 0.81
51 Familial aggregation of white matter lesions in myotonic dystrophy type 1. Neuromuscul Disord 2008 0.81
52 Phenotypic overlap in familial and sporadic primary adult-onset extracranial dystonia. J Neurol 2012 0.81
53 Postexercise facilitation of motor evoked potentials following transcranial magnetic stimulation: a study in normal subjects. Muscle Nerve 2002 0.81
54 Atypical clinical and radiological presentation of cryptococcal choroid plexitis in an immunocompetent woman. J Neurol Sci 2013 0.80
55 Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. Mov Disord 2006 0.80
56 GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. J Neurol 2006 0.80
57 Two families with novel PMP22 point mutations: genotype-phenotype correlation. J Peripher Nerv Syst 2009 0.79
58 Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. J Neurol 2005 0.79
59 Electrophysiological comparison between males and females in HNPP. Neurol Sci 2012 0.78
60 Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol 2015 0.78
61 Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1. Am J Med Genet A 2005 0.78
62 Anti-GAD antibody ocular flutter: expanding the spectrum of autoimmune ocular motor disorders. J Neurol 2013 0.78
63 Modifications of brain tissue volumes in facioscapulohumeral dystrophy. Neuroimage 2006 0.77
64 Intraepidermal nerve fiber analysis using immunofluorescence with and without confocal microscopy. Muscle Nerve 2015 0.77
65 Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. Neuromuscul Disord 2002 0.77
66 Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? J Neurol 2014 0.77
67 A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. J Peripher Nerv Syst 2012 0.77
68 Internodal length variability of dermal myelinated fibres. Brain 2010 0.76
69 Autonomic nervous system involvement in a new CMT2B family. J Peripher Nerv Syst 2012 0.76
70 Possible contribution of vascular innervation to somatic sensory function. Pain 2010 0.75
71 Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations. J Neurol 2006 0.75
72 Thermosensitive hereditary neuropathy with liability to pressure palsy. Muscle Nerve 2011 0.75
73 Chronic inflammatory demyelinating polyneuropathy mimicking an acute painful diabetic neuropathy. Neurol Sci 2015 0.75
74 Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease. Clin Neurophysiol 2010 0.75
75 Anodal transcranial direct current stimulation of motor cortex does not ameliorate spasticity in multiple sclerosis. Restor Neurol Neurosci 2015 0.75
76 Early detection of biventricular involvement in myotonic dystrophy by tissue Doppler. Int J Cardiol 2006 0.75
77 Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene. Muscle Nerve 2015 0.75
78 Teaching video neuroimages: clonus of the lower jaw: an old sign that comes back. Neurology 2014 0.75
79 Nine-year case history of monofocal motor neuropathy. Muscle Nerve 2008 0.75
80 A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort. Front Biosci (Elite Ed) 2010 0.75
81 A case of congenital cataracts, facial dysmorphisms, neuropathy, and hyperkinetic movement disorder. Mov Disord 2013 0.75