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List of works by Lucio Santoro

A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study

scientific article

A case of congenital cataracts, facial dysmorphisms, neuropathy, and hyperkinetic movement disorder ⬇️

scientific article published on February 13, 2013

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]

scientific article published on 09 September 2006

A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation.

scientific article

A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

scientific article published on 01 August 2000

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

scientific article published on 01 September 2012

A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females

scientific article published on 01 April 1996

A rare mutation in MYH7 gene occurs with overlapping phenotype

article

A second family with hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibres, detected in the same geographic area as the first family.

scientific article published in April 1998

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

scientific article published on 01 August 2010

ATTRv amyloidosis Italian Registry: clinical and epidemiological data

scientific article published on 22 July 2020

Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis

scientific article published on 01 September 2000

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

scientific article published on 01 November 2000

Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis

scientific article published on 01 January 2003

Adult-onset Alexander disease

Age at onset and symptom spread in primary adult-onset blepharospasm and cervical dystonia

scientific article published on 13 August 2012

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B.

scientific article published on 13 November 2017

Amiodarone-induced experimental acute neuropathy in rats

scientific article published on 01 July 1992

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.

scientific article

Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?

Anodal transcranial direct current stimulation of motor cortex does not ameliorate spasticity in multiple sclerosis.

scientific article published in August 2015

Anti-GAD antibody ocular flutter: expanding the spectrum of autoimmune ocular motor disorders

scientific article published on 22 September 2013

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial ⬇️

scientific article published on April 1, 2011

Atypical clinical and radiological presentation of cryptococcal choroid plexitis in an immunocompetent woman.

scientific article

Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy.

scientific article published in April 2011

Autonomic dysfunction in children with Hirschsprung's disease

scientific article published in 1999

Autonomic nervous system involvement in a new CMT2B family

scientific article published on 01 September 2012

Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

scientific article published on 01 October 1996

Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients

scientific article published in October 1996

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

scientific article published on 01 May 2005

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

scientific article published on 8 March 2005

Axonal degeneration in systemic sclerosis can be reverted by factors improving tissue oxygenation.

scientific article published on 15 October 2007

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.

scientific article published in March 2004

Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study

scientific article published in June 2002

Brain damage in glycogen storage disease type I

scientific article published on 01 May 2004

Case of Myhre syndrome with autism and peculiar skin histological findings.

scientific article published in October 2001

Case of acute motor conduction block neuropathy (AMCBN).

scientific article published in February 2009

Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?

scientific article

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

scientific article published on 8 February 2013

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

scientific article published in July 2005

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.

scientific article published in June 2006

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family

scientific article published in May 2002

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

scientific article published in December 2014

Chronic inflammatory demyelinating polyneuropathy mimicking an acute painful diabetic neuropathy

scientific article published on 28 February 2015

Chronic inflammatory demyelinating polyradiculoneuropathy. A clinical, electrophysiological and biopsy study

scientific article published on 01 January 1991

Clinical and neuropsychological long-term outcomes after late recovery of responsiveness: a case series.

scientific article published on 23 November 2013

Consistence and discrepancy of neuropathic pain screening tools DN4 and ID-Pain.

scientific article published on 21 March 2012

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

scientific article published on 26 October 2018

Cortico-spinal pathways and inhibitory mechanisms in hepatic encephalopathy

scientific article published on 01 February 1997

Cutaneous innervation of the human face as assessed by skin biopsy

scientific article published on 18 October 2012

Diabetes mellitus in Kearns-Sayre syndrome: a case with a 10-year follow-up

scientific article published on 01 December 1995

Differential myelinated and unmyelinated sensory and autonomic skin nerve fiber involvement in patients with ophthalmic postherpetic neuralgia.

scientific article published on 4 August 2015

Differential trigeminal myelinated and unmyelinated nerve fiber involvement in FOSMN syndrome

scientific article

Dilated Virchow-Robin spaces in myotonic dystrophy: frequency, extent and significance

scientific article published in January 2001

Distal hypoglycemic neuropathy. An insulinoma-associated case, misdiagnosed as temporal lobe epilepsy.

scientific article published in November 2003

Dystrophinopathy in a young boy with Klinefelter's syndrome

scientific article published on 01 June 1998

Early detection of biventricular involvement in myotonic dystrophy by tissue Doppler

scientific article published on 12 October 2006

Early onset calpainopathy with normal non-functional calpain 3 level

scientific article

Electrophysiologic characterization in spinocerebellar ataxia 17.

scientific article published in March 2006

Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients

scientific article published on 01 June 1990

Electrophysiological characterisation in hereditary spastic paraplegia type 5

scientific article published on 15 December 2010

Electrophysiological characterization of adult-onset Niemann-Pick type C disease.

scientific article published on 16 December 2014

Electrophysiological comparison between males and females in HNPP

scientific article published on 04 December 2012

Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes.

scientific article

Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm

scientific article published on 20 July 2011

Evaluation of the motor cortex by magnetic stimulation in patients with Alzheimer disease

scientific article published in January 1996

Evoked potentials in inherited ataxias: a multimodal electrophysiological study

scientific article

Evolution of gastric electrical features and gastric emptying in children with Duchenne and Becker muscular dystrophy

scientific article published in March 2005

Excitatory and inhibitory mechanisms in Wilson's disease: investigation with magnetic motor cortex stimulation ⬇️

scientific article published on November 15, 2001

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

scientific article published on 29 September 2011

Eye symptoms in relatives of patients with primary adult-onset dystonia

scientific article published on 15 December 2011

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

scientific article published on 03 January 2012

Familial aggregation of white matter lesions in myotonic dystrophy type 1

scientific article published on 11 March 2008

Frequency and time to relapse after discontinuing 6-month therapy with IVIg or pulsed methylprednisolone in CIDP.

scientific article

Friedreich's ataxia: electrophysiologic and histologic findings in patients and relatives

scientific article published on 01 July 1987

Functional involvement of central cholinergic circuits and visual hallucinations in Parkinson's disease

scientific article

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

scientific article

Gender differences in non-motor symptoms in early, drug naïve Parkinson's disease

scientific article

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

scientific article (publication date: July 2001)

In vivo confocal microscopy of meissner corpuscles as a measure of sensory neuropathy

scientific article published on 01 August 2008

Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease.

scientific article published in June 2000

Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A

scientific article published on 23 July 2013

Insulin-like growth factor-1 predicts cognitive functions at 2-year follow-up in early, drug-naïve Parkinson's disease

scientific article published on 29 March 2013

Internodal length variability of dermal myelinated fibres.

scientific article

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Intraepidermal nerve fiber analysis using immunofluorescence with and without confocal microscopy.

scientific article

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria

scientific article published on 01 June 1991

Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial ⬇️

scientific article published on May 10, 2012

Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia.

scientific article published on November 1992

Is overwork weakness relevant in Charcot-Marie-Tooth disease?

scientific article published on 21 March 2014

Is serum uric acid related to non-motor symptoms in de-novo Parkinson's disease patients?

scientific article

Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis Bar syndrome

scientific article published on 01 January 1986

Isolated intracranial Mycobacterium avium complex granulomas in an immune-competent man.

scientific article published on 17 January 2015

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

Late recovery after traumatic, anoxic, or hemorrhagic long-lasting vegetative state

scientific article

Link between non-motor symptoms and cognitive dysfunctions in de novo, drug-naive PD patients

scientific article

Lower limb involvement in adult-onset primary dystonia: frequency and clinical features.

scientific article published on 17 September 2009

Modifications of brain tissue volumes in facioscapulohumeral dystrophy

scientific article published on 27 June 2006

Motor and somatosensory evoked potentials in hereditary spastic paraplegia ⬇️

scientific article published on December 1, 1991

Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration

scientific article published on 11 December 2007

Multimodal electrophysiologic follow-up study in 3 mutated but presymptomatic members of a spinocerebellar ataxia type 1 (SCA1) family

scientific article published in June 2005

Multiple mtDNA deletions: clinical and molecular correlations

scientific article published on 01 March 2000

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene

scientific article published on 24 February 2015

Myelinated nerve endings in human skin.

scientific article

Neuropathy and levodopa in Parkinson's disease: Evidence from a multicenter study

scientific article published on 08 July 2013

Neuropathy in idiopathic Parkinson disease: an iatrogenic problem?

scientific article published on 01 February 2011

Neurophysiologic evaluation of central-peripheral sensory and motor pudendal pathways in primary premature ejaculation

scientific article published on 01 March 2003

Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease.

scientific article published on 24 August 2010

Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations

scientific article published on 06 March 2006

Neuropsychologic assessment and cognitive rehabilitation in a patient with locked-in syndrome and left neglect

scientific article published in March 2010

Nine-year case history of monofocal motor neuropathy

scientific article published on 01 July 2008

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

scientific article

PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

scientific article published on 8 May 2014

Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study

scientific article published in September 2002

Patterns of motor control reorganization in a patient with mirror movements

scientific article published on 01 February 2000

Perioral skin biopsy to study skeletal muscle protein expression

Phenotypic overlap in familial and sporadic primary adult-onset extracranial dystonia

scientific article published on 10 May 2012

Possible contribution of vascular innervation to somatic sensory function ⬇️

scientific article published on 09 September 2010

Post-exercise facilitation and depression of motor evoked potentials to transcranial magnetic stimulation: a study in multiple sclerosis.

scientific article

Postexercise facilitation of motor evoked potentials following transcranial magnetic stimulation: a study in normal subjects

scientific article published in March 2002

Postganglionic sudomotor denervation in patients with multiple system atrophy

scientific article published on 16 May 2014

Predictors of recovery of responsiveness in prolonged anoxic vegetative state.

scientific article published on 9 January 2013

Premature aging in Werner's syndrome spares the central nervous system

scientific article published on 01 May 1996

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population

scientific article

Quantification of myelinated endings and mechanoreceptors in human digital skin.

scientific article published on August 2003

Quantification of pilomotor nerves: a new tool to evaluate autonomic involvement in diabetes

scientific article published on 01 September 2010

Quantitative assessment of visual behavior in disorders of consciousness

scientific article published in September 2012

Ross syndrome: a lesson from a monozygotic twin pair.

scientific article published on 2 January 2013

Ross syndrome: a rare or a misknown disorder of thermoregulation? A skin innervation study on 12 subjects.

scientific article published on 12 July 2006

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients.

scientific article published on 19 June 2014

Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease).

scientific article

Short-latency afferent inhibition in patients with Parkinson's disease and freezing of gait.

scientific article published on 31 July 2015

Skin sympathetic adrenergic innervation: an immunofluorescence confocal study

scientific article published in February 2006

Small nerve fiber involvement in CMT1A.

scientific article

Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease)

scientific article published on 01 December 2007

Somatosensory temporal discrimination threshold is increased in patients with cerebellar atrophy.

scientific article published in August 2013

Spasmodic dysphonia follow-up with videolaryngoscopy and voice spectrography during treatment with botulinum toxin.

scientific article published on 13 May 2015

Specific impairment of BAER's in Friedreich's ataxia. Auditory evoked responses in clinical evaluation and differential diagnosis

scientific article published in July 1984

Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families

scientific article published on 01 June 1999

Sural nerve and epidermal vascular abnormalities in a case of POEMS syndrome

scientific article published on 01 January 2006

T2 relaxometry of brain in myotonic dystrophy

scientific article published in March 2001

Teaching video neuroimages: clonus of the lower jaw: an old sign that comes back

scientific article published on 01 March 2014

The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity

scientific article

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

scientific article published on 8 March 2005

The combined treatment with orbital and pretarsal botulinum toxin injections in the management of poorly responsive blepharospasm.

scientific article

The effects of prolonged cathodal direct current stimulation on the excitatory and inhibitory circuits of the ipsilateral and contralateral motor cortex.

scientific article published on 19 June 2012

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The glycopeptide CSF114(Glc) detects serum antibodies in multiple sclerosis

scientific article published on 01 October 2005

The heterogeneity of early Parkinson's disease: a cluster analysis on newly diagnosed untreated patients

scientific article

Thermosensitive hereditary neuropathy with liability to pressure palsy ⬇️

scientific article published on March 1, 2011

Tremor in primary adult-onset dystonia: prevalence and associated clinical features

scientific article

Two families with novel PMP22 point mutations: genotype-phenotype correlation

scientific article published on 01 September 2009

Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease

scientific article published in June 2002

Upper gastrointestinal tract motility in children with progressive muscular dystrophy

scientific article published in November 1992

Validation of the Italian version of the Neuropathic Pain Symptom Inventory in peripheral nervous system diseases

article

Why do some Friedreich's ataxia patients retain tendon reflexes?

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