List of works by Rocco Liguori

A case of fatal familial insomnia in Africa

scientific article published on 14 June 2009

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

scientific article published on 24 February 2011

A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.

scientific article published on 8 February 2016

A multi-center, multinational age- and gender-adjusted normative dataset for immunofluorescent intraepidermal nerve fiber density at the distal leg.

scientific article published on 23 October 2015

A new potential biomarker for dementia with Lewy bodies: Skin nerve α-synuclein deposits.

scientific article published on 30 June 2017

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

scientific article published on 28 June 2014

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

scientific article

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

scientific article

A prospective multicentre study on sural nerve action potentials in ALS

scientific article published on 04 March 2008

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

scientific journal article

Abdominal neuropathy after renal surgery.

scientific article

Abnormal α-synuclein deposits in skin nerves: intra- and inter-laboratory reproducibility

scientific article published on 02 August 2019

Accuracy of clinical diagnosis of dementia with Lewy bodies: a systematic review and meta-analysis

scientific article

Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency

scientific article published on 20 September 2013

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

scientific article published on 13 August 2012

Agrypnia Excitata: a microneurographic study of muscle sympathetic nerve activity

scientific article published on 12 May 2009

Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of the Fabry disease mouse model

scientific article published on 04 January 2019

Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?

Anti-ganglioside antibodies in coeliac disease with neurological disorders

scientific article

Are there motor fibers in the sural nerve?

scientific article published on 01 January 1990

Arousal elicits exaggerated inhibition of sympathetic nerve activity in phobic syncope patients

scientific article published on 29 March 2007

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

scientific article published on 25 July 2014

Autonomic disturbances in narcolepsy

scientific article published on 14 July 2010

Autonomic innervation in multiple system atrophy and pure autonomic failure

scientific article published on 26 July 2010

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree

scientific article published in October 2006

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

article

Axial myoclonus in Devic neuromyelitis optica

scientific article published on 01 August 2009

Axial myoclonus in paraproteinemic polyneuropathy

scientific article published in October 2008

Bilateral centrotemporal spikes triggered by blinking: an unusual form of sensory input with related cortical EEG activity.

scientific article

Botulinum toxin A improves muscle spasms and rigidity in stiff-person syndrome

scientific article published on 01 November 1997

Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation

scientific article

Brain Metabolic Correlates of Apathy in Amyotrophic Lateral Sclerosis: a 18 F-FDG-PET study

scientific article published on 11 November 2020

Can medical audit change electromyographic practice?

scientific article

Cataplectic attacks during rapid eye movement sleep behavior disorder episodes in a narcoleptic patient

scientific article

Ceftriaxone is ineffective in ALS

scientific article published on 01 February 1994

Cerebellar and brainstem functional abnormalities in patients with primary orthostatic tremor

Cervical demyelinating lesion presenting with choreoathetoid movements and dystonia

article

Characterization of Human Dermal Fibroblasts in Fabry Disease.

scientific article published on 8 June 2015

Chronic progressive steroid responsive axonal polyneuropathy: A CIDP variant or a primary axonal disorder?

scientific article published on 01 March 1996

Combined brain positron emission tomography/magnetic resonance imaging in GABAA receptor encephalitis

scientific article published on 13 June 2019

Continuous motor unit activity syndromes: a video-polysomnographic study

scientific article published on 7 October 2005

Cranial bone density in motor neuron disease (MND)

scientific article published on 01 February 1987

Cutaneous sensory and autonomic denervation in CADASIL.

scientific article published on 12 February 2016

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

scientific article published on 14 December 2012

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

scientific article published on 8 December 2017

Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepiness

scientific article published in September 2007

De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack

scientific article published on 19 August 2015

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.

scientific article published on 13 September 2010

Development of a disability scale for myotonic dystrophy type 1.

scientific article published on 8 September 2011

Differences in the handling of the EMG examination at seven European laboratories

scientific article published on 01 April 1994

Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis.

scientific article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

scientific article

Electromyography in myopathy.

scientific article published on June 1997

Electroneurographic investigation of the mandibular nerve in lingual neuropathy

scientific article published on 01 March 1998

Electrophysiological findings in X-linked myopathy with excessive autophagy

scientific article published on 01 May 2002

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

scientific article published on 20 July 2011

Epidemiology of amyotrophic lateral sclerosis in Emilia Romagna Region (Italy): A population based study

scientific article published on 7 February 2014

Erythematous papules on the parasternal region in a 76-year-old man

scientific article published on 01 May 2008

Excessive fragmentary hypnic myoclonus: clinical and neurophysiological findings

scientific article published in January 2002

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

scientific article published on 15 December 2011

Familial continuous motor unit activity and epilepsy

scientific article published in May 2001

From state dissociation to status dissociatus

scientific article

Generalised anhidrosis: different lesion sites demonstrated by microneurography and skin biopsy.

scientific article

Habituation of sympathetic sudomotor and vasomotor skin responses: neural and non-neural components in healthy subjects

article

Heterogeneity in ALSFRS-R decline and survival: a population-based study in Italy

scientific article published on 24 July 2015

High frequency somatosensory stimulation in dystonia: Evidence fordefective inhibitory plasticity

article by Roberto Erro et al published 30 October 2018 in Movement Disorders

High frequency somatosensory stimulation increases sensori-motor inhibition and leads to perceptual improvement in healthy subjects.

scientific article published on 8 April 2017

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

scientific article published on 13 April 2015

Hypnic jerks: neurophysiological characterization of a new motor pattern

scientific article

Idebenone treatment in Leber's hereditary optic neuropathy.

scientific article published on 2 August 2011

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

scientific article

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.

scientific article published on 13 February 2018

Idiopathic central sleep apnoea syndrome treated with zolpidem

scientific article

Immunotherapy of oneiric stupor in Morvan syndrome: Efficacy documented by actigraphy

scientific article published on 15 May 2015

Impact of medical audit on electrodiagnostic medicine in polyneuropathy.

scientific article published on 23 June 2011

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

scientific article published on 3 July 2014

Influence of medical audit on electrodiagnostic evaluation of polyneuropathy. A multicentre study

scientific article

Influence of peer review medical audit on pathophysiological interpretation of nerve conduction studies in polyneuropathies

scientific article

Inter- and intraobserver variation in the interpretation of electromyographic tests

scientific article published on 01 December 1995

Intermittent head drops: the differential spectrum

scientific article published on 17 June 2015

Isolated generalised anhidrosis induced by postganglionic sympathetic skin nerve fibre degeneration: an incomplete Ross syndrome?

scientific article published on 20 March 2008

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

Italian recommendations for Lambert-Eaton myasthenic syndrome (LEMS) management

scientific article published on 31 January 2014

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

scientific article

Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient.

scientific article

Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?

scientific article

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

scientific article published on 17 September 2009

Melanopsin retinal ganglion cell loss in Alzheimer disease

scientific article published on 27 October 2015

Methods of sudomotor innervation quantification

scientific article published on 01 June 2011

Microneurographic evaluation of sympathetic activity in small fiber neuropathy

article

Microneurographic recording from unmyelinated nerve fibers in neurological disorders: an update

scientific article published on 17 October 2014

Mitochondrial dysfunction in myotonic dystrophy type 1.

scientific article published on 14 November 2017

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine

scientific article

Modulation of the Muscle Activity During Sleep in Cervical Dystonia

scientific article published on 19 May 2017

Molecular biology of channelopathies: impact on diagnosis and treatment.

scientific article

Multiple sclerosis-like disease in polyglandular autoimmune syndrome

scientific article published in January 2001

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

scientific article published on 15 June 2017

Muscle and skin sympathetic activities in Ross syndrome

scientific article published on 11 January 2012

Muscle sympathetic response to arousal predicts neurovascular reactivity during mental stress.

scientific article published on 23 April 2012

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

Myoglobinuria after ingestion of extracts of guarana, Ginkgo biloba and kava

scientific article published on 01 April 2000

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

scientific article

Nocturnal Sleep Dynamics Identify Narcolepsy Type 1

scientific article published on 7 March 2015

Non-paraneoplastic ataxia in a patient with contactin-associated protein-2 antibodies and benign course

scientific article published on 01 May 2015

Nutraceutical Approach to Peripheral Neuropathies: Evidence from Clinical Trials.

scientific article published on 31 October 2017

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

scientific article

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

scientific article

Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy

scientific article published on 20 December 2012

Orthodromic sensory conduction along the ring finger in normal subjects and in patients with a carpal tunnel syndrome.

scientific article

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

scientific article published on 28 March 2016

Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice

scientific article

Parallel changes in resting muscle sympathetic nerve activity and blood pressure in a hypertensive OSAS patient demonstrate treatment efficacy

scientific article published on 12 May 2006

Paraneoplastic cerebellar degeneration and lambert-eaton myasthenia in a patient with merkel cell carcinoma and voltage-gated calcium channel antibodies.

scientific article published on 22 December 2016

Parkinsonian tremor persisting during cataplexy

scientific article published on 21 August 2015

Pathophysiology inferred from electrodiagnostic nerve tests and classification of polyneuropathies. Suggested guidelines

scientific article

Pearls & Oy-sters: rapidly progressive dementia: prions or immunomediated?

scientific article published on 01 April 2014

Peripheral autonomic neuropathy: diagnostic contribution of skin biopsy

scientific article published on 01 November 2012

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

scientific article published on 10 May 2012

Physiological hypnic myoclonus

scientific article published in August 1988

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

scientific article

Primary progressive narcolepsy type 1: the other side of the coin

scientific article

Propriospinal myoclonus upon relaxation and drowsiness: A cause of severe insomnia

scientific article published on 01 January 1997

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations

scientific article

Quality of life in patients with craniocervical dystonia: Italian validation of the "Cervical Dystonia Impact Profile (CDIP-58)" and the "Craniocervical Dystonia Questionnaire (CDQ-24)".

scientific article published on 30 January 2014

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

scientific article published on 23 January 2008

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

scientific article

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

article

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.

scientific article published on 3 May 2016

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

scientific article published on 25 March 2016

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

Skin biopsy and I-123 MIBG scintigraphy findings in idiopathic Parkinson's disease and parkinsonism: a comparative study.

scientific article published on 17 March 2015

Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency.

scientific article published on 21 May 2016

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

scientific article

Skin nerve misfolded α-synuclein in pure autonomic failure and Parkinson disease.

scientific article published on 29 December 2015

Skin nerve phosphorylated α-synuclein deposits in idiopathic REM sleep behavior disorder

scientific article published on 3 May 2017

Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease

scientific article published on 14 March 2014

Skin sympathetic adrenergic innervation: an immunofluorescence confocal study

scientific article published in February 2006

Skin sympathetic fiber α-synuclein deposits: a potential biomarker for pure autonomic failure

scientific article published on 06 February 2013

Sleep disorders in patients with spinal cord injury

scientific article published on 22 April 2013

Sleep stage-related changes in sympathetic sudomotor and vasomotor skin responses in man.

scientific article

Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON).

scientific article published on 21 December 2009

Sleep-related stridor due to dystonic vocal cord motion and neurogenic tachypnea/tachycardia in multiple system atrophy

scientific article published in April 2007

Small fiber neuropathy in female patients with fabry disease.

scientific article published in March 2010

Small nerve fiber involvement in patients referred for fibromyalgia

scientific article published on 28 January 2014

Somatic and autonomic small fiber neuropathy induced by bortezomib therapy: an immunofluorescence study.

scientific article published on 3 February 2011

Spine Topographical Distribution of Skin α-Synuclein Deposits in Idiopathic Parkinson Disease

scientific article published on 10 April 2017

Steroid-responsive multifocal demyelinating neuropathy with central involvement

scientific article published in February 1999

Subcutaneous immunoglobulin treatment and leucopenia in acquired demyelinating peripheral neuropathies

scientific article published on 06 May 2019

Sympathetic and cardiovascular activity during cataplexy in narcolepsy

scientific article published on 20 October 2008

Sympathetic and cardiovascular changes during sleep in narcolepsy with cataplexy patients.

scientific article published on 18 January 2014

Sympathetic skin response: basic mechanisms and clinical applications

scientific article

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

scientific article

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

scientific article published in January 2018

The empowerment of translational research: lessons from laminopathies.

scientific article

The motor tinel sign: a useful sign in entrapment neuropathy?

scientific article published on 01 June 2000

The role of skin biopsy in differentiating small-fiber neuropathy from ganglionopathy

scientific article published on 06 April 2018

The spectrum of REM sleep-related episodes in children with type 1 narcolepsy

scientific article published on May 2017

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

scientific article

Turns-amplitude analysis of the electromyographic recruitment pattern disregarding force measurement. I. Method and reference values in healthy subjects

scientific article published in December 1992

Turns-amplitude analysis of the electromyographic recruitment pattern disregarding force measurement. II. Findings in patients with neuromuscular disorders

scientific article published on 01 December 1992

Variation in diagnostic strategy of the EMG examination--a multicentre study.

scientific article published in October 1999

Variation in performance of the EMG examination at six European laboratories

scientific article published on 01 December 1995

Variation in the classification of polyneuropathies among European physicians.

scientific article

Variation in the neurophysiological examination of amyotrophic lateral sclerosis in Europe

scientific article published on 01 October 2010

Visual system involvement in patients with Friedreich's ataxia

scientific article

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