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List of works by Marco Luigetti

'White nails'. Skin changes in POEMS syndrome

scientific article published on 13 November 2014

6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction.

scientific article published on 14 July 2017

A Case of Hemiabdominal Myoclonus

scientific article

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

scientific article published on 26 May 2010

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 single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

scientific article published on 01 August 2008

A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs

scientific article published on 01 October 2011

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

scientific article published on 25 September 2010

A novel L67P SOD1 mutation in an Italian ALS patient

scientific article published on 19 January 2011

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease

scientific article published on 22 May 2014

A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease

scientific article published on 21 May 2014

A novel compound heterozygousALS2mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis

article

AL amyloid neuropathy mimicking a chronic inflammatory demyelinating polyneuropathy

scientific article published on 01 February 2012

ATTRv amyloidosis Italian Registry: clinical and epidemiological data

scientific article published on 22 July 2020

Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy

scientific article published on 06 December 2010

Admission neurophysiological abnormalities in Guillain-Barré syndrome: A single-center experience

scientific article

An Uncommon Diagnostic Algorithm for a Common Condition.

scientific article published in July 2015

An uncommon cause of headache resolution: spontaneous ventriculostomy in obstructive hydrocephalus.

scientific article

Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype

scientific article published on 21 November 2019

Assessment of neurological manifestations in hospitalized patients with COVID-19

scientific article published on 18 July 2020

Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

article

Autologous peripheral blood stem cell transplantation and the role of lenalidomide in patients affected by poems syndrome

scientific article published on 15 September 2017

Benedictine hand of ‘central’ origin ⬇️

scientific article published on May 28, 2012

Bilateral thalamic stroke transiently reduces arousals and NREM sleep instability

scientific article published on 6 November 2010

Brain MRI in global hypoxia-ischemia: a map of selective vulnerability.

scientific article published on 2 February 2012

Causes of chronic neuropathies: a single-center experience

scientific article published on 18 April 2019

Central conduction abnormalities in patients receiving levodopa-carbidopa intestinal gel infusion

scientific article published on 22 June 2017

Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.

scientific article published on 6 October 2009

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

scientific article

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

scientific article published on 08 July 2012

Clinical Health Care during the COVID-19 Pandemic

scientific article published on 05 November 2020

Clinical and pathological heterogeneity in a series of 31 patients with IgM-related neuropathy.

scientific article published on 25 May 2012

Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.

scientific article published on 30 July 2014

Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation

scientific article published on 20 May 2011

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.

scientific article published on 31 March 2014

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

scientific article published on 20 June 2012

Cranial botulism ⬇️

scientific article published on June 23, 2012

Creutzfeldt-Jakob disease manifesting as stroke mimic in a 78-year-old patient: pitfalls and tips in the diagnosis

scientific article published on 27 August 2014

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

scientific article published on 11 August 2011

Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care

scientific article published on 21 February 2020

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.

scientific article published on 12 August 2017

Distinct lymphocytes subsets in IgM-related neuropathy: clinical-immunological correlations

scientific article published on 06 September 2014

Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy?

scientific article published on 04 August 2018

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

scientific article published on 13 March 2018

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations

scientific article published on 22 February 2019

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita.

scientific article published on 25 June 2014

Efficacy of lenalidomide plus dexamethasone for POEMS syndrome relapsed after autologous peripheral stem-cell transplantation.

scientific article published on 10 April 2012

Epstein-Barr virus antibodies in serum and cerebrospinal fluid from multiple sclerosis, chronic inflammatory demyelinating polyradiculoneuropathy and amyotrophic lateral sclerosis.

scientific article published on 26 May 2010

Erratum to "Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience" [Clin. Neurol. Neurosurg. 144 (2016) 67-71]

scientific article published on 02 June 2016

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

scientific article published on 01 May 2016

Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients

article

Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy

scientific article published on 31 August 2020

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

scientific article published on 18 June 2012

Gadolinium enhancement of the lumbar leptomeninges and roots in a case of ALS

scientific article published in August 2010

Heterogeneity of root and nerve ultrasound pattern in CIDP patients

scientific article published on 05 October 2013

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis

scientific article published on 15 August 2009

Hirayama flexion myelopathy

scientific article published on 30 November 2012

Imaging Features of Varicella Zoster Virus Cranial Multiple Mononeuropathies

scientific article published on 03 July 2018

Improvement of obstructive sleep apneas caused by hydrocephalus associated with Chiari malformation Type II following surgery.

scientific article published in October 2010

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

scientific article published on 23 July 2013

Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.

scientific article published on 24 December 2012

Isolated light chain deposition disease neuropathy in a patient with multiple myeloma

scientific article published on 28 September 2019

Light chain deposition in peripheral nerve as a cause of mononeuritis multiplex in Waldenström's macroglobulinaemia.

scientific article published on 10 February 2010

Longitudinal assessments in discordant twins with SMA.

scientific article published on 8 July 2017

Low rate repetitive nerve stimulation in Lambert-Eaton myasthenic syndrome: peculiar characteristics of decremental pattern from a single-centre experience.

scientific article

Lower motor neuron involvement in longitudinally extensive transverse myelitis with and without aquaporin-4 antibodies

scientific article published on 27 January 2014

Lumbosacral multiradiculopathy responsive to antibiotic therapy: description of four patients with lumbar spondylosis and a superimposed Lyme disease

scientific article published on 11 February 2014

MRI findings of crossed cerebellar diaschisis in a case of Rasmussen's encephalitis.

scientific article

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

scientific article

Mitochondrial neuropathy: considerations on pathogenesis

scientific article published on 01 August 2016

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

scientific article published on 16 March 2016

Most recent common ancestor ofTTRVal30Met mutation in Italian population and its potential role in genotype-phenotype correlation

article

Movement disorders phenomenology in focal motor seizures

scientific article published on 16 October 2018

Multimodal CT imaging of a posterior fossa stroke

scientific article published on 22 June 2011

Muscle cramps and weakness after teriparatide therapy: a new drug-induced myopathy?

scientific article published on 16 January 2013

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

scientific article published on 11 July 2013

Myasthenia gravis with presynaptic neurophysiological signs: Two case reports and literature review.

scientific article published on 05 May 2015

Mycosis fungoides as a cause of severe obstructive sleep apnea.

scientific article published on 15 August 2011

NEUROLOGIC IMPROVEMENT AFTER PERIPHERAL BLOOD STEM CELL TRANSPLANTATION IN POEMS

Natural history of young-adult amyotrophic lateral sclerosis

scientific article

Nerve conduction studies of the sural nerve: normative data from a single-center experience.

scientific article published on 21 March 2012

Nerve ultrasound findings in neuropathy associated with anti-myelin-associated glycoprotein antibodies

scientific article published on 01 September 2014

Nerve ultrasound in CMT2E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology.

scientific article published on 30 June 2016

Nerve ultrasound in patients with CMT1C: description of 3 cases

scientific article published on 01 May 2015

Neurological picture. Pseudoperipheral tongue weakness

scientific article

Neuropathy with predominant small fiber involvement associated with abnormal anti-MAG titer

scientific article published on 01 December 2010

Nine syndrome

scientific article published on 17 May 2019

Nocturnal cramps: a nerve problem

scientific article published in June 2013

Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.

scientific article published on 21 June 2017

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features

scientific article published on 20 March 2015

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

scientific article published on 9 September 2011

Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience

scientific article published on 17 June 2020

Peripheral Nervous System Involvement in Lymphoproliferative Disorders

scholarly article by Mario Sabatelli et al published 2018 in Mediterranean journal of hematology and infectious diseases

Peripheral neuropathy and 46XY gonadal dysgenesis: confirmation of a heterogeneous entity

scientific article published on 30 December 2011

Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience

scientific article published on 29 January 2016

Persistence of abnormal electrophysiological findings after carpal tunnel release.

scientific article published on 11 June 2013

Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses

scientific article published on 29 October 2019

Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis

scientific article

Post-Encephalitic Parkinsonism and Sleep Disorder Responsive to Immunological Treatment: A Case Report.

scientific article

Posterior interosseous nerve syndrome due to radioulnar joint cyst

scientific article published on 12 October 2013

Posterior ischaemic myelopathy associated with cocaine abuse

scientific article published on October 1, 2010

Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations

scientific article

Primary multifocal lymphoma of peripheral nervous system: case report and review of the literature

scientific article published on 30 October 2014

Progressive ascending myelopathy: atypical forms of multiple sclerosis or what else?

scientific article published on 22 April 2011

Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy

scientific article published on 07 September 2018

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

scientific article

Rasmussen encephalitis: an unusual cause for intractable seizures in elderly.

scientific article published on 18 September 2013

Recurrent miller fisher: a new case report and a literature review.

scientific article

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

scientific article

Reply to "The significance of significance: overstating in the setting of many comparisons".

scientific article

Reply to "Work-up for mitochondrial small fiber neuropathy requires application of skin biopsies"

scientific article published on 11 July 2018

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

Rituximab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a report of 13 cases and review of the literature.

scientific article published on 16 July 2010

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

scientific article published in October 2009

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

scientific article published on 28 May 2011

Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

scientific article published on September 2010

Sensory-motor not length-dependent multineuropathy followed by the syringomyelia-like phenotype: a novel presentation of Tangier disease

scientific article published in 2022

Sjögren's syndrome presenting with isolated sensory axonal polyneuropathy

scientific article published on 25 July 2016

Small Fibre Involvement in Multifocal Motor Neuropathy Explored with Sudoscan: A Single-Centre Experience

scientific article published on 26 September 2020

Small fibre neuropathy in mitochondrial diseases explored with sudoscan

scientific article published on 01 June 2018

Somatosensory Evoked Potentials of Inferior Alveolar Nerve: confirmation of a possible non-invasive neurophysiological approach.

scientific article

Spontaneous bilateral internal carotid artery dissection presenting with right hemifacial pain

scientific article published on 25 July 2012

Spontaneous regression of a midbrain lesion in a patient with chronic transtentorial herniation: is it a pre-syrinx?

scientific article published on 6 February 2010

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

scientific article published on 14 January 2020

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.

scientific article published on 22 January 2018

Subacute combined degeneration.

scientific article published on 11 July 2013

Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre

scientific article published on 01 December 2018

Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center

scientific article published on 24 October 2019

Sural nerve pathology in ALS patients: a single-centre experience

scientific article published on 28 December 2011

Teaching Neuro Images : Neurogenic thoracic outlet syndrome ⬇️

scientific article published on July 10, 2012

Teaching NeuroImages: Transient mutism associated with splenium lesion in capecitabine-induced leukoencephalopathy

scientific article published on 01 February 2019

Teaching NeuroImages: cochleitis: a rare cause of acute deafness in a patient with HCV.

scientific article published in November 2011

Teaching NeuroImages: the full-blown neuroimaging of Wernicke encephalopathy.

scientific article published in June 2009

Teaching neuroimages: Peroneal intraneural ganglion cyst: a rare cause of drop foot in a child

scientific article published on 01 February 2012

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency

scientific article published on 06 January 2010

Ultrasound evaluation in transthyretin-related amyloid neuropathy

scientific article published on 16 June 2014

Ultrasound visualization of nerve morphological alteration at the site of conduction block

scientific article published on 01 December 2009

Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS

scientific article published on 01 July 2011

Vanishing aneurysm ⬇️

scientific article published on May 22, 2012

Vertebral Artery Dissection Presenting With Isolated Occipital Headache

scientific article published on 05 August 2010

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

scientific article published on 26 October 2020

pSTAT1, pSTAT3, and T-bet as markers of disease activity in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 01 June 2009

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