Lista de obras - Fiore Manganelli - Dominio Público Uruguay

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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

artículo científico publicado en 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.

artículo científico publicado en 1998

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

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 nervous system involvement in a new CMT2B family

artículo científico publicado en 2012

Brainstem involvement and respiratory failure in COVID-19

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

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

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

artículo científico publicado en 2009

Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome

artículo científico publicado en 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.

artículo científico publicado en 2003

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

artículo científico publicado en 2014

Electrophysiologic characterization in spinocerebellar ataxia 17.

artículo científico publicado en 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.

artículo científico publicado en 2014

Electrophysiological comparison between males and females in HNPP

artículo científico publicado en 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

artículo científico publicado en 2019

Familial aggregation of white matter lesions in myotonic dystrophy type 1

artículo científico publicado en 2008

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

Hereditary transthyretin amyloidosis overview

artículo científico publicado en 2020

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Mutilating fingertip ulcers in uncontrolled type 1 diabetes mellitus.

artículo científico publicado en 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.

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

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

artículo científico publicado en 2004

Postganglionic sudomotor denervation in patients with multiple system atrophy

artículo científico publicado en 2014

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population

artículo científico publicado en 2006

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

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

artículo científico publicado en 2006

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 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

Thermosensitive hereditary neuropathy with liability to pressure palsy ⬇️

artículo científico publicado el 1 de marzo de 2011

Trigeminal stimulation elicits a peripheral vestibular imbalance in migraine patients

artículo científico publicado en 2005

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

scientific article published on 01 September 2009

Lista de obras de Fiore Manganelli

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

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

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

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.

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

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

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

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

Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy.

Autonomic nervous system involvement in a new CMT2B family

Brainstem involvement and respiratory failure in COVID-19

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

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?

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

Chronic inflammatory demyelinating polyneuropathy mimicking an acute painful diabetic neuropathy

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

Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome

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

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

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

Electrophysiologic characterization in spinocerebellar ataxia 17.

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

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Familial aggregation of white matter lesions in myotonic dystrophy type 1

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

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

Hereditary transthyretin amyloidosis overview

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

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.

Inherited neuromyotonia: a clinical and genetic study of a family

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

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

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

Motor cortex cholinergic dysfunction in CADASIL: a transcranial magnetic demonstration

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

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

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

Mutilating fingertip ulcers in uncontrolled type 1 diabetes mellitus.

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

Neurophysiological Signatures of Motor Impairment in Patients with Rett Syndrome

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

Nine-year case history of monofocal motor neuropathy

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

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

Postganglionic sudomotor denervation in patients with multiple system atrophy

Prevalence and characteristics of peripheral neuropathy in hepatitis C virus population

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

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

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

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

Small nerve fiber involvement in CMT1A.

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

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

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

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

The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity

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

Thermosensitive hereditary neuropathy with liability to pressure palsy ⬇️

Trigeminal stimulation elicits a peripheral vestibular imbalance in migraine patients

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