IRIS
GRANDIS, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 13.637
AS - Asia 1.946
NA - Nord America 901
SA - Sud America 167
AF - Africa 39
OC - Oceania 4
Totale 16.694
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Nazione #
IT - Italia 13.306
SG - Singapore 838
US - Stati Uniti d'America 834
CN - Cina 507
VN - Vietnam 352
FR - Francia 128
BR - Brasile 97
HK - Hong Kong 65
FI - Finlandia 52
MX - Messico 37
AR - Argentina 29
DE - Germania 29
JP - Giappone 26
IN - India 23
NL - Olanda 23
CA - Canada 22
GB - Regno Unito 19
BD - Bangladesh 17
IQ - Iraq 17
ID - Indonesia 14
CH - Svizzera 12
PH - Filippine 12
ES - Italia 11
TR - Turchia 10
PK - Pakistan 9
CL - Cile 8
IE - Irlanda 8
ZA - Sudafrica 8
EC - Ecuador 7
PY - Paraguay 7
RU - Federazione Russa 7
VE - Venezuela 7
AZ - Azerbaigian 6
CO - Colombia 6
EG - Egitto 6
MY - Malesia 6
NP - Nepal 6
PL - Polonia 6
HN - Honduras 5
JO - Giordania 5
RO - Romania 5
TW - Taiwan 5
AL - Albania 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
HR - Croazia 2
IL - Israele 2
PE - Perù 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
JM - Giamaica 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
UG - Uganda 1
ZW - Zimbabwe 1
Totale 16.694
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Città #
Genova 6.557
Genoa 4.387
Vado Ligure 1.127
Rapallo 1.061
Singapore 418
San Jose 307
Ashburn 116
Ho Chi Minh City 112
Lauterbourg 111
Hanoi 86
Beijing 81
Council Bluffs 64
Hong Kong 58
Helsinki 46
New York 44
Santa Clara 36
Bordighera 31
Tokyo 25
Los Angeles 24
Frankfurt am Main 21
Haiphong 19
Mexico City 19
São Paulo 16
Orem 15
Milan 14
Da Nang 12
Amsterdam 11
Shanghai 11
Vancouver 11
Baghdad 9
Bắc Ninh 8
Chicago 8
Dublin 8
Tianjin 8
Atlanta 7
Zurich 7
Baku 6
Brooklyn 6
City of London 6
Lappeenranta 6
Rome 6
Warsaw 6
Boardman 5
Florence 5
Johannesburg 5
Quảng Ngãi 5
Thái Bình 5
Amman 4
Biên Hòa 4
Breda 4
Bến Tre 4
Chennai 4
Curitiba 4
Dallas 4
Guayaquil 4
Jakarta 4
Montreal 4
Naples 4
Santiago 4
Toronto 4
Bergamo 3
Bologna 3
Brusaporto 3
Buffalo 3
Cairo 3
Ciudad del Este 3
Córdoba 3
Dakar 3
Dammam 3
Denver 3
Erbil 3
Ferrandina 3
Guangzhou 3
Istanbul 3
Lahore 3
London 3
Lugano 3
Madrid 3
Manila 3
Marseille 3
Nuremberg 3
Palhoça 3
Paris 3
Phoenix 3
Phủ Lý 3
Rosario 3
Tashkent 3
Thái Nguyên 3
Tirana 3
Vienna 3
Acalanes Ridge 2
Accra 2
Addis Ababa 2
Almaty 2
Ankara 2
Asunción 2
Bari 2
Belo Horizonte 2
Bogotá 2
Boston 2
Totale 15.118
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Nome #
Dysimmune mononeuropathies: A diagnosis not to be missed 228
Acute disseminated encephalomyelitis with severe neurological outcomes following virosomal seasonal influenza vaccine 201
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 200
Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease. 198
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 193
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 189
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study 188
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 187
Mycophenolate mofetil in dysimmune neuropathies: a preliminary study. 184
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 182
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 182
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 181
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations 179
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 175
Guillain-Barré syndrome following chickenpox: A case series 175
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. 172
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 170
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 169
Different movement disorders responsive to carbamazepine in patients with brainstem focal lesions 169
Early electophysiological changes in transgenic rat model of charcot-marie-tooth. 168
Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy 168
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 167
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 167
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 167
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 166
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. 164
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 163
Electrophysiologic correlations with clinical outcomes in CIDP. 163
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 163
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 163
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). 162
PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A. 161
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 160
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 159
Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease. 158
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation 156
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. 154
Insulin treatment enhances expression of IGF-I in sural nerves of diabetic patients. 154
Contribution of copy number variations in CMT1X: a retrospective study. 154
Genotype-Phenotype correlations of MPZ mutations 153
Subcutaneous immunoglobulins are a valuable treatment option in myasthenia gravis 145
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 144
Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trial. 140
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 138
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. 138
Current Therapy for Charcot-Marie-Tooth Disease. 137
Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies 135
Congenital myopathies: Clinical phenotypes and new diagnostic tools 134
Timing and course of clinical response to intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy. 133
THE USE OF IVIG IN MOTOR MONONEUROPATHY (MM): DESCRIPTION OF TWO CASES. 132
Is overwork weakness relevant in Charcot-Marie-Tooth disease? 132
Immune Checkpoint Inhibitors-Related Myastenia Gravis, Myocarditis and Myositis: A Systematic Review of Cases 131
Safety and tolerability of immune globulin intravenous in chronic inflammatory demyelinating polyradiculoneuropathy. 131
Electrophysiology in chronic inflammatory demyelinating polyneuropathy with IGIV. 130
Understanding the consequences of chronic inflammatory demyelinating polyradiculoneuropathy from impairments to activity and participation restrictions and reduced quality of life: the ICE study. 130
Cellular and molecular differences between early and late onset myelin protein zero mutations 129
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 128
Glycans of myelin proteins. 127
Gene symbol: GNE. Disease: Inclusion body myopathy. 126
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside 126
Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies 125
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism 124
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 123
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 122
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. 122
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 122
Phenotipic clustering in MPZ mutations. 121
Immunoelectron microscopy study of skin biopsies from patients with different types of Charcot-Marie-tooth neuropathy 121
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 119
Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial 119
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 117
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 116
Nerve conduction velocity in CMT1A: what else can we tell? 115
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 113
Comparison of Strength and Dexterity in Professional and Student Violinists: Setting Foundations to Guide Rehabilitation 111
People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey 111
Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations 109
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry 109
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 109
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 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
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 106
Neuromuscular and cardiac adverse events associated with immune checkpoint inhibitors: pooled analysis of individual cases from multiple institutions and literature 105
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 103
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 103
Functional Characterization of Hyccin, a Novel Membrane Protein Involved in Central and Peripheral Myelination 102
Intravenous versus subcutaneous immunoglobulin – Authors' reply 101
Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study 99
Applicabilità dell’analisi fenotipica (radiomica) su immagini di RMN dei maggiori nervi dell’arto inferiore 99
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 95
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 95
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 95
Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study 94
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 91
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature 88
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 87
Neuropatie diabetiche 87
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. 87
Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT 85
EARLY NOCICEPTIVE EVOKED POTENTIALS (NEPS) IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS AND CHARCOTMARIE-TOOTH DISEASE TYPE 1A 84
Totale 13.827
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Categoria #
all - tutte 57.606
article - articoli 54.870
book - libri 0
conference - conferenze 2.736
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 115.212
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021252 0 0 0 0 0 0 0 0 0 96 63 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
2025/20265.104 676 181 338 477 752 477 904 363 416 520 0 0
Totale 17.052