IRIS
GRANDIS, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 13.960
NA - Nord America 2.385
AS - Asia 2.268
Continente sconosciuto - Info sul continente non disponibili 379
SA - Sud America 211
AF - Africa 43
OC - Oceania 4
Totale 19.250
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Nazione #
IT - Italia 13.568
US - Stati Uniti d'America 2.203
SG - Singapore 851
CN - Cina 564
VN - Vietnam 354
BD - Bangladesh 239
FR - Francia 137
BR - Brasile 114
CA - Canada 78
HK - Hong Kong 71
FI - Finlandia 52
GB - Regno Unito 41
MX - Messico 39
DE - Germania 34
AR - Argentina 32
NL - Olanda 32
JP - Giappone 29
IN - India 26
CO - Colombia 22
IQ - Iraq 17
ES - Italia 16
ID - Indonesia 15
CH - Svizzera 13
JM - Giamaica 12
PH - Filippine 12
TR - Turchia 12
VE - Venezuela 12
PK - Pakistan 10
CL - Cile 9
CR - Costa Rica 9
HN - Honduras 9
IE - Irlanda 8
MY - Malesia 8
ZA - Sudafrica 8
EC - Ecuador 7
NP - Nepal 7
PL - Polonia 7
PY - Paraguay 7
RU - Federazione Russa 7
SV - El Salvador 7
TT - Trinidad e Tobago 7
AZ - Azerbaigian 6
EG - Egitto 6
JO - Giordania 6
SA - Arabia Saudita 6
GT - Guatemala 5
RO - Romania 5
TH - Thailandia 5
TW - Taiwan 5
AL - Albania 4
BE - Belgio 4
DZ - Algeria 4
EE - Estonia 4
LT - Lituania 4
NI - Nicaragua 4
PR - Porto Rico 4
TN - Tunisia 4
UA - Ucraina 4
UZ - Uzbekistan 4
AT - Austria 3
AU - Australia 3
BO - Bolivia 3
GH - Ghana 3
IL - Israele 3
IR - Iran 3
KE - Kenya 3
KZ - Kazakistan 3
SC - Seychelles 3
SE - Svezia 3
SN - Senegal 3
CY - Cipro 2
ET - Etiopia 2
HR - Croazia 2
PE - Perù 2
RS - Serbia 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
BM - Bermuda 1
BS - Bahamas 1
BW - Botswana 1
CG - Congo 1
DK - Danimarca 1
GD - Grenada 1
GE - Georgia 1
GF - Guiana Francese 1
GP - Guadalupe 1
GR - Grecia 1
IS - Islanda 1
KR - Corea 1
KW - Kuwait 1
LB - Libano 1
LC - Santa Lucia 1
LK - Sri Lanka 1
Totale 18.860
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Città #
Genova 6.557
Genoa 4.409
Vado Ligure 1.127
Rapallo 1.061
San Jose 509
Singapore 429
Ashburn 256
Beijing 112
Ho Chi Minh City 112
Lauterbourg 111
New York 96
Hanoi 86
Santa Clara 72
Council Bluffs 67
Hong Kong 63
Los Angeles 51
Helsinki 46
Milan 36
Phoenix 33
Rome 33
Bordighera 31
Chicago 30
Boardman 26
Tokyo 26
Buffalo 24
Frankfurt am Main 23
Mexico City 21
Haiphong 19
Dallas 18
Houston 18
Naples 17
Orem 17
São Paulo 16
Atlanta 15
Toronto 15
Vancouver 14
Da Nang 13
Brooklyn 12
Montreal 12
Amsterdam 11
Elk Grove Village 11
Philadelphia 11
Shanghai 11
San Francisco 10
Baghdad 9
Brasília 9
Tianjin 9
Bắc Ninh 8
Dublin 8
Las Vegas 8
Paris 8
Washington 8
Columbus 7
Kingston 7
Memphis 7
Pittsburgh 7
Queens 7
San Salvador 7
Turin 7
Zurich 7
Baku 6
Bologna 6
Cincinnati 6
City of London 6
Denver 6
Florence 6
Kansas City 6
Lappeenranta 6
London 6
San José 6
Warsaw 6
Bari 5
Bergamo 5
Bogotá 5
Detroit 5
Jacksonville 5
Johannesburg 5
Madrid 5
Quảng Ngãi 5
Santiago 5
Thái Bình 5
Amman 4
Biên Hòa 4
Breda 4
Bến Tre 4
Cali 4
Catania 4
Charlotte 4
Chennai 4
Chula Vista 4
Concord 4
Curitiba 4
Dayton 4
Guatemala City 4
Guayaquil 4
Istanbul 4
Jakarta 4
Lincoln 4
Louisville 4
Marseille 4
Totale 16.002
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Nome #
Dysimmune mononeuropathies: A diagnosis not to be missed 241
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 210
Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease. 207
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 206
Acute disseminated encephalomyelitis with severe neurological outcomes following virosomal seasonal influenza vaccine 205
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 205
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 204
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study 204
Mycophenolate mofetil in dysimmune neuropathies: a preliminary study. 200
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 196
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 196
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 195
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations 194
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 194
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 192
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 187
Guillain-Barré syndrome following chickenpox: A case series 185
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 182
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. 181
Early electophysiological changes in transgenic rat model of charcot-marie-tooth. 180
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 179
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 178
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 178
Different movement disorders responsive to carbamazepine in patients with brainstem focal lesions 175
Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy 174
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. 173
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 173
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 173
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 173
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). 173
Electrophysiologic correlations with clinical outcomes in CIDP. 172
Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease. 167
PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A. 167
Genotype-Phenotype correlations of MPZ mutations 167
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 167
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 165
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. 165
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation 164
Contribution of copy number variations in CMT1X: a retrospective study. 162
Insulin treatment enhances expression of IGF-I in sural nerves of diabetic patients. 160
Timing and course of clinical response to intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy. 159
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 158
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 156
Subcutaneous immunoglobulins are a valuable treatment option in myasthenia gravis 155
Congenital myopathies: Clinical phenotypes and new diagnostic tools 155
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 150
Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trial. 149
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 148
Cellular and molecular differences between early and late onset myelin protein zero mutations 146
Understanding the consequences of chronic inflammatory demyelinating polyradiculoneuropathy from impairments to activity and participation restrictions and reduced quality of life: the ICE study. 146
Current Therapy for Charcot-Marie-Tooth Disease. 145
THE USE OF IVIG IN MOTOR MONONEUROPATHY (MM): DESCRIPTION OF TWO CASES. 145
Immune Checkpoint Inhibitors-Related Myastenia Gravis, Myocarditis and Myositis: A Systematic Review of Cases 143
Electrophysiology in chronic inflammatory demyelinating polyneuropathy with IGIV. 143
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. 143
Safety and tolerability of immune globulin intravenous in chronic inflammatory demyelinating polyradiculoneuropathy. 142
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 141
Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies 141
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism 141
Glycans of myelin proteins. 139
Is overwork weakness relevant in Charcot-Marie-Tooth disease? 139
Neuromuscular and cardiac adverse events associated with immune checkpoint inhibitors: pooled analysis of individual cases from multiple institutions and literature 138
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 136
Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies 135
Gene symbol: GNE. Disease: Inclusion body myopathy. 135
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 134
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry 134
Immunoelectron microscopy study of skin biopsies from patients with different types of Charcot-Marie-tooth neuropathy 132
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside 132
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 132
Nerve conduction velocity in CMT1A: what else can we tell? 132
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 130
Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial 130
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 130
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. 129
Phenotipic clustering in MPZ mutations. 128
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 128
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 126
People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey 122
Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study 121
Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations 120
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 119
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 118
Intravenous versus subcutaneous immunoglobulin – Authors' reply 117
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 117
Comparison of Strength and Dexterity in Professional and Student Violinists: Setting Foundations to Guide Rehabilitation 116
Functional Characterization of Hyccin, a Novel Membrane Protein Involved in Central and Peripheral Myelination 114
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 111
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 111
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 109
Applicabilità dell’analisi fenotipica (radiomica) su immagini di RMN dei maggiori nervi dell’arto inferiore 109
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 107
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature 107
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 106
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 105
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 104
EARLY NOCICEPTIVE EVOKED POTENTIALS (NEPS) IN HEREDITARY TRANSTHYRETIN AMYLOIDOSIS AND CHARCOTMARIE-TOOTH DISEASE TYPE 1A 100
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. 100
Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study 100
Neuropatie diabetiche 98
Totale 15.125
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Categoria #
all - tutte 68.127
article - articoli 65.002
book - libri 0
conference - conferenze 3.125
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 136.254
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.108 0 0 122 148 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
2025/20266.086 676 181 338 477 752 477 904 363 416 609 437 456
2026/20271.216 550 214 452 0 0 0 0 0 0 0 0 0
Totale 19.250