Search filters

List of works by Fiore Manganelli

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

scientific article published on February 13, 2013

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

scientific article published on 27 May 2019

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

scientific article

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

scientific article published on 01 September 2012

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

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

scientific article published on 01 January 2003

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

scientific article published on 13 November 2017

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

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 nervous system involvement in a new CMT2B family

scientific article published on 01 September 2012

Brainstem involvement and respiratory failure in COVID-19

scientific article published on 29 May 2020

CSF sphingomyelin: a new biomarker of demyelination in the diagnosis and management of CIDP and GBS

scientific article published on 22 October 2020

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

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

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

scientific article

Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome

scientific article published on 01 August 2007

Diffuse brain connectivity changes in Charcot-Marie-tooth type 1A patients: A resting-state functional MRI study

scientific article published on 21 September 2020

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

scientific article published in November 2003

Early changes of myocardial deformation properties in patients with dystrophia myotonica type 1: a three-dimensional Speckle Tracking echocardiographic study

scientific article published in August 2014

Electrophysiologic characterization in spinocerebellar ataxia 17.

scientific article published in March 2006

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

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

scientific article published on 29 September 2011

Expanding the spectrum of genes responsible for hereditary motor neuropathies

scientific article published on 05 June 2019

Familial aggregation of white matter lesions in myotonic dystrophy type 1

scientific article published on 11 March 2008

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

Hereditary transthyretin amyloidosis overview

scientific article published on 14 November 2020

Impulse control disorders induced by rasagiline as adjunctive therapy for Parkinson's disease: Report of 2 cases

scientific article published on 08 January 2013

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

Inherited neuromyotonia: a clinical and genetic study of a family

scientific article published on 30 November 2006

Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs

scientific article published on 24 November 2019

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

scientific article published on 17 January 2015

Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

scientific article published on 13 March 2018

Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration

scientific article published on 11 December 2007

Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients.

scientific article

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

scientific article published on 21 October 2020

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

scientific article published on 24 February 2015

Mutilating fingertip ulcers in uncontrolled type 1 diabetes mellitus.

scientific article published on 26 July 2013

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

scientific article published on 08 July 2013

Neurophysiological Signatures of Motor Impairment in Patients with Rett Syndrome

scientific article published on 04 March 2020

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

scientific article published on 24 August 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

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

scientific article

Postganglionic sudomotor denervation in patients with multiple system atrophy

scientific article published on 16 May 2014

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population

scientific article

RELEVANCE OF DIAGNOSTIC INVESTIGATIONS IN CHRONIC INFLAMMATORY DEMYELINATING POLIRADICULONEUROPATHY: DATA FROM THE ITALIAN CIDP DATABASE

scientific article published on 28 April 2020

Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database

scientific article published on 09 August 2019

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

scientific article published on 12 July 2006

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

scientific article published on 31 July 2015

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

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

scientific article published on 01 January 2006

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 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

Thermosensitive hereditary neuropathy with liability to pressure palsy ⬇️

scientific article published on March 1, 2011

Trigeminal stimulation elicits a peripheral vestibular imbalance in migraine patients

scientific article published on 01 April 2005

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

scientific article published on 01 September 2009

Paulina is supported by:

About Paulina

Help