Lista de obras - Lucio Santoro - Dominio Público Uruguay

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

artículo científico publicado en 1987

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.

artículo científico publicado en 2011

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

artículo científico publicado en 2000

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

artículo científico publicado en 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.

artículo científico publicado en 1998

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

artículo científico publicado en 2010

ATTRv amyloidosis Italian Registry: clinical and epidemiological data

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2003

Adult-onset Alexander disease

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Amiodarone-induced experimental acute neuropathy in rats

artículo científico publicado en 1992

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

artículo científico publicado en 2005

Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado el 1 de abril de 2011

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

artículo científico publicado en 2013

Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy.

artículo científico publicado en 2011

Autonomic dysfunction in children with Hirschsprung's disease

artículo científico publicado en 1999

Autonomic nervous system involvement in a new CMT2B family

artículo científico publicado en 2012

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

artículo científico publicado en 1996

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

artículo científico publicado en 1996

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

artículo científico publicado en 2005

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2004

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

artículo científico publicado en 2002

Brain damage in glycogen storage disease type I

artículo científico publicado en 2004

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

artículo científico publicado en 2001

Case of acute motor conduction block neuropathy (AMCBN).

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Chronic inflammatory demyelinating polyneuropathy mimicking an acute painful diabetic neuropathy

artículo científico publicado en 2015

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

artículo científico publicado en 1991

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 1995

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

artículo científico publicado en 2015

Differential trigeminal myelinated and unmyelinated nerve fiber involvement in FOSMN syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2006

Electrophysiologic characterization in spinocerebellar ataxia 17.

artículo científico publicado en 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.

artículo científico publicado en 2014

Electrophysiological comparison between males and females in HNPP

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 1996

Evoked potentials in inherited ataxias: a multimodal electrophysiological study

artículo científico publicado en 1994

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2001

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

artículo científico publicado en 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.

artículo científico publicado en 2000

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Internodal length variability of dermal myelinated fibres.

artículo científico publicado en 2010

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 1991

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

artículo científico publicado en 2012

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

artículo científico publicado en 1992

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 1986

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Modifications of brain tissue volumes in facioscapulohumeral dystrophy

artículo científico publicado en 2006

Motor and somatosensory evoked potentials in hereditary spastic paraplegia ⬇️

artículo científico publicado el 1 de diciembre de 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

artículo científico publicado en 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

artículo científico publicado en 2015

Myelinated nerve endings in human skin.

artículo científico publicado en 2007

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?

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2012

Possible contribution of vascular innervation to somatic sensory function ⬇️

artículo científico publicado el 9 de septiembre de 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2002

Postganglionic sudomotor denervation in patients with multiple system atrophy

artículo científico publicado en 2014

Predictors of recovery of responsiveness in prolonged anoxic vegetative state.

artículo científico publicado en 2013

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

artículo científico publicado en 1996

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population

artículo científico publicado en 2006

Quantification of myelinated endings and mechanoreceptors in human digital skin.

artículo científico publicado en 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

artículo científico publicado en 2012

Ross syndrome: a lesson from a monozygotic twin pair.

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2000

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

artículo científico publicado en 2015

Skin sympathetic adrenergic innervation: an immunofluorescence confocal study

artículo científico publicado en 2006

Small nerve fiber involvement in CMT1A.

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 1984

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

artículo científico publicado en 1999

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

artículo científico publicado en 2006

T2 relaxometry of brain in myotonic dystrophy

artículo científico publicado en 2001

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

artículo científico publicado en 2014

The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2013

Thermosensitive hereditary neuropathy with liability to pressure palsy ⬇️

artículo científico publicado el 1 de marzo de 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2002

Upper gastrointestinal tract motility in children with progressive muscular dystrophy

artículo científico publicado en 1992

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

article

Lista de obras de Lucio Santoro

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

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]

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

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

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

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

A rare mutation in MYH7 gene occurs with overlapping phenotype

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.

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

ATTRv amyloidosis Italian Registry: clinical and epidemiological data

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

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

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

Adult-onset Alexander disease

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

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

Amiodarone-induced experimental acute neuropathy in rats

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

Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?

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

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

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

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

Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy.

Autonomic dysfunction in children with Hirschsprung's disease

Autonomic nervous system involvement in a new CMT2B family

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

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

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

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

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

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.

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

Brain damage in glycogen storage disease type I

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

Case of acute motor conduction block neuropathy (AMCBN).

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

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

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

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

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.

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

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

Chronic inflammatory demyelinating polyneuropathy mimicking an acute painful diabetic neuropathy

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

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

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

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

Cortico-spinal pathways and inhibitory mechanisms in hepatic encephalopathy

Cutaneous innervation of the human face as assessed by skin biopsy

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

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

Differential trigeminal myelinated and unmyelinated nerve fiber involvement in FOSMN syndrome

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

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

Dystrophinopathy in a young boy with Klinefelter's syndrome

Early detection of biventricular involvement in myotonic dystrophy by tissue Doppler

Early onset calpainopathy with normal non-functional calpain 3 level

Electrophysiologic characterization in spinocerebellar ataxia 17.

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

Electrophysiological characterisation in hereditary spastic paraplegia type 5

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

Electrophysiological comparison between males and females in HNPP

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

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

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

Evoked potentials in inherited ataxias: a multimodal electrophysiological study

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

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

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

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

Familial aggregation of white matter lesions in myotonic dystrophy type 1

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

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

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

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

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

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