IRIS
TOZZA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 1.093
EU - Europa 771
AS - Asia 530
AF - Africa 22
OC - Oceania 5
SA - Sud America 2
Totale 2.423
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Nazione #
US - Stati Uniti d'America 1.082
IT - Italia 505
SG - Singapore 244
HK - Hong Kong 170
NL - Olanda 95
CN - Cina 89
DE - Germania 45
FI - Finlandia 40
CI - Costa d'Avorio 19
UA - Ucraina 18
IE - Irlanda 14
IN - India 14
RU - Federazione Russa 14
GB - Regno Unito 12
CA - Canada 11
FR - Francia 10
VN - Vietnam 8
PL - Polonia 6
AU - Australia 5
BE - Belgio 4
DK - Danimarca 3
AT - Austria 2
BR - Brasile 2
NG - Nigeria 2
TR - Turchia 2
BJ - Benin 1
ES - Italia 1
IR - Iran 1
JP - Giappone 1
PH - Filippine 1
RS - Serbia 1
SE - Svezia 1
Totale 2.423
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Città #
Singapore 209
Chandler 199
Hong Kong 169
Naples 135
Santa Clara 134
Ashburn 85
Amsterdam 78
Napoli 44
Millbury 39
Boston 37
Lawrence 33
Helsinki 27
Des Moines 25
Seattle 22
Beijing 18
Nanjing 17
Wilmington 12
Casoria 11
Rome 11
Princeton 10
Dearborn 9
Dong Ket 8
Jacksonville 8
Milan 8
Buccinasco 7
Kronberg 7
Redwood City 7
Shenzhen 7
Woodbridge 7
Wuhan 7
Dublin 6
Florence 6
Hebei 6
Ottawa 6
Pune 6
Angri 5
Falkenstein 5
Lappeenranta 5
Modena 5
Nanchang 5
Zhengzhou 5
Boardman 4
Castellammare di Stabia 4
Changsha 4
Council Bluffs 4
Fairfield 4
Moscow 4
Newark 4
Osimo 4
Quarto 4
Seregno 4
Shenyang 4
Waanrode 4
Arzano 3
Avellino 3
Baronissi 3
Frankfurt am Main 3
Fremont 3
Paris 3
Parma 3
Sant'arpino 3
Washington 3
Afragola 2
Bolzano 2
Campagna 2
Carpaneto Piacentino 2
Casalnuovo di Napoli 2
Castellammare Di Stabia 2
Cattolica 2
Cava de' Tirreni 2
Cercola 2
Charlotte 2
Cinisello Balsamo 2
Dallas 2
Erbusco 2
Formia 2
Guangzhou 2
London 2
Los Angeles 2
Melito di Napoli 2
Montecassiano 2
Mugnano di Napoli 2
Norwalk 2
Poggiomarino 2
Pomezia 2
Pralboino 2
Romainville 2
Rovigo 2
Rozzano 2
Sydney 2
Tianjin 2
Vijayawada 2
Ann Arbor 1
Ardabil 1
Atella 1
Atena Lucana 1
Atlanta 1
Augusta 1
Aversa 1
Bad Bellingen 1
Totale 1.593
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Nome #
Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH 118
Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI 102
Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1a patients 72
Electrophysiological characterization of adult-onset Niemann?Pick type C disease 68
Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP 64
Early predictive factors of disability in CIDP 59
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report 57
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population 55
Telemedicine application to headache: a critical review 55
Alemtuzumab in Covid era 53
Postural instability in Charcot-Marie-Tooth 1A disease 51
Diffuse brain connectivity changes in Charcot-Marie-tooth type 1A patients: A resting-state functional MRI study 50
Diagnosis and management of type 1 sialidosis: Clinical insights from long-term care of four unrelated patients 50
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? 48
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population 48
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs 47
How to manage with telemedicine people with neuromuscular diseases? 46
Pseudo-orthostatic tremor: description of a not typical case 45
Seronegative occult HBV reactivation complicated with fulminant acute liver failure after rituximab for chronic inflammatory demyelinating polyneuropathy 45
Expanding the spectrum of genes responsible for hereditary motor neuropathies 44
In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C 43
Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report 41
A compound score to screen patients with hereditary transthyretin amyloidosis 40
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 40
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family 39
Are novel outcome measures for Charcot–Marie–Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study 39
Brain Plasticity in Charcot-Marie-Tooth Type 1A Patients? A Combined Structural and Diffusion MRI Study 39
Can we identify hereditary TTR amyloidosis by the screening of carpal tunnel syndrome patients? 38
Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners 37
Nerve conduction velocity in CMT1A: what else can we tell? 35
Novel outcome measures for Charcot-Marie-Tooth disease: Validation and reliability of the 6-min walk test and StepWatch™ Activity Monitor and identification of the walking features related to higher quality of life 35
Bedside head impulse test: A useful tool for patients with sensory ataxia 34
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene 33
Multiple cranial neuropathy due to varicella zoster virus reactivation without vesicular rash: a challenging diagnosis 31
Contribution of skin biopsy in peripheral neuropathies 31
Correction to: How to manage with telemedicine people with neuromuscular diseases? (Neurological Sciences, (2021), 42, 9, (3553-3559), 10.1007/s10072-021-05396-8) 31
Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease 31
One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better? 30
Skin innervation across amyotrophic lateral sclerosis clinical stages: new prognostic biomarkers 29
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy 29
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease 29
The neuropathy in hereditary transthyretin amyloidosis: A narrative review 29
Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience 28
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 28
25-Hydroxy-Vitamin D and Risk of Recurrent Stroke: A Dose Response Meta-Analysis 27
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4) 27
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene 25
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 25
Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation 25
BDNF polymorphism and interhemispheric balance of motor cortex excitability: a preliminary study 25
Machine Learning for Early Diagnosis of ATTRv Amyloidosis in Non-Endemic Areas: A Multicenter Study from Italy 24
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy 22
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease 22
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy 22
A case of severe increase of liver enzymes in a ATTRv patient after one year of inotersen treatment 21
Correction to: Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease 21
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus 20
RFC1 expansions are a common cause of idiopathic sensory neuropathy 20
Pregnancy in Charcot-Marie-Tooth disease Data from the Italian CMT national registry 20
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry 18
Value of Antibody Determinations in Chronic Dysimmune Neuropathies 16
Phosphorylated α-Synuclein Deposits in Cutaneous Nerves of Early Parkinsonism 16
Sialidosis type 1: Long-term care of two unrelated patients and effectiveness of low doses of Perampanel 15
Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis? 15
Pregnancy experience in women with spinal muscular atrophy: a case series 14
Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy 14
Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy 13
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry 13
Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy 12
White matter abnormalities in 15 subjects with SPG76 12
Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease 12
Characterization of Hypertrophic Cardiomyopathy Caused by Mutations in Four and a Half Lim Domains 1 Gene 11
Adherence and Reactogenicity to Vaccines against SARS-COV-2 in 285 Patients with Neuropathy: A Multicentric Study 11
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy 11
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis 10
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 9
Clinical criteria and diagnostic assessment of fibromyalgia: position statement of the Italian Society of Neurology-Neuropathic Pain Study Group 8
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies 7
Microstructural Changes in Motor Functional Conversion Disorder: Multimodal Imaging Approach on a Case 5
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes 4
hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers 4
The spectrum of anti-GQ1B antibody syndrome: beyond Miller Fisher syndrome and Bickerstaff brainstem encephalitis 3
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. 2
Totale 2.597
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Categoria #
all - tutte 12.725
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 12.725
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202070 0 0 0 0 0 0 18 5 3 24 13 7
2020/202176 2 2 11 12 9 7 6 3 4 5 7 8
2021/2022261 3 0 0 0 2 0 3 4 16 50 62 121
2022/2023564 54 57 14 23 74 62 10 39 75 81 35 40
2023/2024510 21 59 103 28 13 98 22 43 12 14 60 37
2024/2025833 124 135 30 18 103 142 281 0 0 0 0 0
Totale 2.597