IRIS
GRANDIS, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 13.760
AS - Asia 2.110
NA - Nord America 1.359
SA - Sud America 167
AF - Africa 39
OC - Oceania 4
Totale 17.439
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Nazione #
IT - Italia 13.423
US - Stati Uniti d'America 1.263
SG - Singapore 847
CN - Cina 546
VN - Vietnam 352
FR - Francia 128
BD - Bangladesh 127
BR - Brasile 97
HK - Hong Kong 67
FI - Finlandia 52
CA - Canada 41
MX - Messico 39
AR - Argentina 29
DE - Germania 29
JP - Giappone 28
NL - Olanda 27
IN - India 23
GB - Regno Unito 19
IQ - Iraq 17
ID - Indonesia 14
CH - Svizzera 13
ES - Italia 12
PH - Filippine 12
PK - Pakistan 10
TR - Turchia 10
CL - Cile 8
IE - Irlanda 8
ZA - Sudafrica 8
EC - Ecuador 7
NP - Nepal 7
PY - Paraguay 7
RU - Federazione Russa 7
VE - Venezuela 7
AZ - Azerbaigian 6
CO - Colombia 6
EG - Egitto 6
MY - Malesia 6
PL - Polonia 6
HN - Honduras 5
JO - Giordania 5
RO - Romania 5
TW - Taiwan 5
AL - Albania 4
JM - Giamaica 4
LT - Lituania 4
SA - Arabia Saudita 4
TN - Tunisia 4
UA - Ucraina 4
UZ - Uzbekistan 4
AT - Austria 3
AU - Australia 3
BE - Belgio 3
DZ - Algeria 3
GH - Ghana 3
KE - Kenya 3
KZ - Kazakistan 3
SN - Senegal 3
TH - Thailandia 3
CR - Costa Rica 2
CY - Cipro 2
ET - Etiopia 2
GT - Guatemala 2
HR - Croazia 2
IL - Israele 2
PE - Perù 2
PR - Porto Rico 2
SE - Svezia 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AO - Angola 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
DK - Danimarca 1
GE - Georgia 1
GF - Guiana Francese 1
GR - Grecia 1
IR - Iran 1
IS - Islanda 1
KR - Corea 1
KW - Kuwait 1
LK - Sri Lanka 1
MA - Marocco 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
OM - Oman 1
PS - Palestinian Territory 1
RS - Serbia 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
UG - Uganda 1
ZW - Zimbabwe 1
Totale 17.439
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Città #
Genova 6.557
Genoa 4.396
Vado Ligure 1.127
Rapallo 1.061
Singapore 427
San Jose 391
Ashburn 146
Ho Chi Minh City 112
Lauterbourg 111
Beijing 103
Hanoi 86
New York 81
Council Bluffs 66
Hong Kong 60
Helsinki 46
Santa Clara 44
Los Angeles 39
Bordighera 31
Boardman 26
Tokyo 26
Frankfurt am Main 21
Mexico City 21
Milan 20
Haiphong 19
Chicago 16
Orem 16
São Paulo 16
Rome 15
Buffalo 14
Vancouver 13
Atlanta 12
Da Nang 12
Amsterdam 11
Dallas 11
Shanghai 11
Naples 10
Baghdad 9
Tianjin 9
Bắc Ninh 8
Dublin 8
Brooklyn 7
Montreal 7
Phoenix 7
Toronto 7
Zurich 7
Baku 6
City of London 6
Lappeenranta 6
San Francisco 6
Warsaw 6
Bari 5
Bergamo 5
Bologna 5
Florence 5
Houston 5
Johannesburg 5
Quảng Ngãi 5
Thái Bình 5
Amman 4
Biên Hòa 4
Breda 4
Bến Tre 4
Chennai 4
Cincinnati 4
Curitiba 4
Guayaquil 4
Jakarta 4
London 4
Philadelphia 4
Piscataway 4
Santiago 4
Bagno a Ripoli 3
Belpasso 3
Brusaporto 3
Cairo 3
Calgary 3
Catania 3
Ciudad del Este 3
Concord 3
Córdoba 3
Dakar 3
Dammam 3
Denver 3
Erbil 3
Ferrandina 3
Guangzhou 3
Istanbul 3
Kansas City 3
Lahore 3
Las Vegas 3
Lugano 3
Madrid 3
Manila 3
Marseille 3
Memphis 3
Nuremberg 3
Palhoça 3
Paris 3
Phủ Lý 3
Rosario 3
Totale 15.452
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Nome #
Dysimmune mononeuropathies: A diagnosis not to be missed 233
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 203
Acute disseminated encephalomyelitis with severe neurological outcomes following virosomal seasonal influenza vaccine 203
Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease. 202
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 199
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study 196
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 193
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 191
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 188
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 187
Mycophenolate mofetil in dysimmune neuropathies: a preliminary study. 187
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 185
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations 182
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 180
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 178
Guillain-Barré syndrome following chickenpox: A case series 178
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 177
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 174
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. 174
Early electophysiological changes in transgenic rat model of charcot-marie-tooth. 171
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 171
Different movement disorders responsive to carbamazepine in patients with brainstem focal lesions 170
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 170
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 169
Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy 169
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. 168
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 167
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 167
Electrophysiologic correlations with clinical outcomes in CIDP. 166
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 166
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 164
Severe neuropathy after Diphtheria-Tetanus-Pertussis vaccination in a child carrying a novel frame-shift mutation in the small haet-shock protein 27 gene (HSPB1). 164
PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A. 163
Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease. 160
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 160
Genotype-Phenotype correlations of MPZ mutations 158
Insulin treatment enhances expression of IGF-I in sural nerves of diabetic patients. 157
Contribution of copy number variations in CMT1X: a retrospective study. 157
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation 157
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. 156
Timing and course of clinical response to intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy. 153
Congenital myopathies: Clinical phenotypes and new diagnostic tools 150
Subcutaneous immunoglobulins are a valuable treatment option in myasthenia gravis 149
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol 147
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 145
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 141
Understanding the consequences of chronic inflammatory demyelinating polyradiculoneuropathy from impairments to activity and participation restrictions and reduced quality of life: the ICE study. 141
Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trial. 140
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. 139
Current Therapy for Charcot-Marie-Tooth Disease. 138
Immune Checkpoint Inhibitors-Related Myastenia Gravis, Myocarditis and Myositis: A Systematic Review of Cases 136
Safety and tolerability of immune globulin intravenous in chronic inflammatory demyelinating polyradiculoneuropathy. 136
Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies 136
Cellular and molecular differences between early and late onset myelin protein zero mutations 135
THE USE OF IVIG IN MOTOR MONONEUROPATHY (MM): DESCRIPTION OF TWO CASES. 135
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 134
Electrophysiology in chronic inflammatory demyelinating polyneuropathy with IGIV. 132
Is overwork weakness relevant in Charcot-Marie-Tooth disease? 132
Glycans of myelin proteins. 130
Gene symbol: GNE. Disease: Inclusion body myopathy. 129
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism 129
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 127
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 127
Neuromuscular and cardiac adverse events associated with immune checkpoint inhibitors: pooled analysis of individual cases from multiple institutions and literature 126
Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies 126
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside 126
Nerve conduction velocity in CMT1A: what else can we tell? 125
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. 124
Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial 124
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 123
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 122
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 122
Phenotipic clustering in MPZ mutations. 122
Immunoelectron microscopy study of skin biopsies from patients with different types of Charcot-Marie-tooth neuropathy 122
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 121
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 118
Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations 115
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 114
People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey 114
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 114
Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study 113
Comparison of Strength and Dexterity in Professional and Student Violinists: Setting Foundations to Guide Rehabilitation 112
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry 112
Restabilization treatment after intravenous immunoglobulin withdrawal in chronic inflammatory demyelinating polyneuropathy: Results from the pre-randomization phase of the Polyneuropathy And Treatment with Hizentra study 111
Intravenous versus subcutaneous immunoglobulin – Authors' reply 108
Very high prevalence of right-to-left shunt on transcranial doppler in an Italian family with cerebral atosomal dominant angiopathy with subcortical infarction and leukoencephalopathy 107
Functional Characterization of Hyccin, a Novel Membrane Protein Involved in Central and Peripheral Myelination 105
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 105
Applicabilità dell’analisi fenotipica (radiomica) su immagini di RMN dei maggiori nervi dell’arto inferiore 104
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 99
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 99
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 98
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 96
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 95
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature 94
Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study 94
Neuropatie diabetiche 90
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 90
EARLY NOCICEPTIVE EVOKED POTENTIALS (NEPS) IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS AND CHARCOTMARIE-TOOTH DISEASE TYPE 1A 89
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. 88
Totale 14.288
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Categoria #
all - tutte 60.891
article - articoli 58.034
book - libri 0
conference - conferenze 2.857
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 121.782
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202193 0 0 0 0 0 0 0 0 0 0 0 93
2021/20221.211 35 68 122 148 37 77 66 260 63 116 40 179
2022/20231.251 111 104 17 128 206 219 3 72 218 8 145 20
2023/2024934 43 85 31 137 59 166 88 51 66 29 55 124
2024/20253.010 151 202 97 202 348 292 268 474 147 159 309 361
2025/20265.861 676 181 338 477 752 477 904 363 416 609 437 231
Totale 17.809