IRIS
GRANDIS, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 13.869
AS - Asia 2.240
NA - Nord America 1.893
Continente sconosciuto - Info sul continente non disponibili 378
SA - Sud America 190
AF - Africa 42
OC - Oceania 4
Totale 18.616
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Nazione #
IT - Italia 13.510
US - Stati Uniti d'America 1.753
SG - Singapore 851
CN - Cina 553
VN - Vietnam 354
BD - Bangladesh 235
FR - Francia 134
BR - Brasile 105
HK - Hong Kong 69
CA - Canada 58
FI - Finlandia 52
MX - Messico 39
AR - Argentina 31
DE - Germania 30
NL - Olanda 30
JP - Giappone 29
IN - India 23
GB - Regno Unito 21
IQ - Iraq 17
ES - Italia 16
CO - Colombia 15
ID - Indonesia 15
CH - Svizzera 13
PH - Filippine 12
TR - Turchia 11
PK - Pakistan 10
VE - Venezuela 10
CL - Cile 9
JM - Giamaica 9
IE - Irlanda 8
ZA - Sudafrica 8
EC - Ecuador 7
NP - Nepal 7
PL - Polonia 7
PY - Paraguay 7
RU - Federazione Russa 7
SV - El Salvador 7
AZ - Azerbaigian 6
EG - Egitto 6
HN - Honduras 6
JO - Giordania 6
MY - Malesia 6
TT - Trinidad e Tobago 6
CR - Costa Rica 5
RO - Romania 5
TW - Taiwan 5
AL - Albania 4
BE - Belgio 4
LT - Lituania 4
SA - Arabia Saudita 4
TH - Thailandia 4
TN - Tunisia 4
UA - Ucraina 4
UZ - Uzbekistan 4
AT - Austria 3
AU - Australia 3
DZ - Algeria 3
GH - Ghana 3
GT - Guatemala 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
IL - Israele 2
NI - Nicaragua 2
PE - Perù 2
PR - Porto Rico 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
BG - Bulgaria 1
BH - Bahrain 1
BM - Bermuda 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
DK - Danimarca 1
GE - Georgia 1
GF - Guiana Francese 1
GR - Grecia 1
IS - Islanda 1
KR - Corea 1
KW - Kuwait 1
LC - Santa Lucia 1
LK - Sri Lanka 1
MA - Marocco 1
MD - Moldavia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
OM - Oman 1
PS - Palestinian Territory 1
Totale 18.234
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Città #
Genova 6.557
Genoa 4.400
Vado Ligure 1.127
Rapallo 1.061
San Jose 442
Singapore 429
Ashburn 199
Ho Chi Minh City 112
Lauterbourg 111
Beijing 108
New York 91
Hanoi 86
Council Bluffs 67
Hong Kong 61
Santa Clara 60
Helsinki 46
Los Angeles 42
Bordighera 31
Milan 31
Boardman 26
Rome 26
Tokyo 26
Chicago 25
Buffalo 23
Frankfurt am Main 22
Mexico City 21
Haiphong 19
Houston 16
Orem 16
São Paulo 16
Phoenix 15
Atlanta 14
Dallas 14
Naples 14
Da Nang 13
Vancouver 13
Amsterdam 11
Shanghai 11
Toronto 11
Brooklyn 10
Montreal 10
Baghdad 9
Philadelphia 9
Tianjin 9
Bắc Ninh 8
Dublin 8
Washington 8
Memphis 7
Paris 7
San Salvador 7
Zurich 7
Baku 6
Bologna 6
City of London 6
Columbus 6
Florence 6
Kansas City 6
Lappeenranta 6
Las Vegas 6
San Francisco 6
Warsaw 6
Bari 5
Bergamo 5
Bogotá 5
Johannesburg 5
Kingston 5
London 5
Madrid 5
Quảng Ngãi 5
Santiago 5
Thái Bình 5
Amman 4
Biên Hòa 4
Breda 4
Bến Tre 4
Chennai 4
Chula Vista 4
Cincinnati 4
Concord 4
Curitiba 4
Denver 4
Guayaquil 4
Istanbul 4
Jacksonville 4
Jakarta 4
Novate Milanese 4
Orland Park 4
Padua 4
Piscataway 4
Pittsburgh 4
Turin 4
West Valley City 4
Akron 3
Bagno a Ripoli 3
Belpasso 3
Brusaporto 3
Cairo 3
Calgary 3
Catania 3
Charleston 3
Totale 15.730
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Nome #
Dysimmune mononeuropathies: A diagnosis not to be missed 239
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 208
Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease. 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 201
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 200
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study 200
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 197
Mycophenolate mofetil in dysimmune neuropathies: a preliminary study. 196
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 195
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 192
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 190
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 190
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations 186
Guillain-Barré syndrome following chickenpox: A case series 184
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 181
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 180
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 180
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. 179
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 176
Early electophysiological changes in transgenic rat model of charcot-marie-tooth. 175
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 175
Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy 174
Different movement disorders responsive to carbamazepine in patients with brainstem focal lesions 172
Electrophysiologic correlations with clinical outcomes in CIDP. 172
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. 171
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 171
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 171
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 171
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). 171
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 170
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 166
Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease. 165
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 165
PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A. 164
Genotype-Phenotype correlations of MPZ mutations 163
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. 163
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation 162
Contribution of copy number variations in CMT1X: a retrospective study. 161
Insulin treatment enhances expression of IGF-I in sural nerves of diabetic patients. 158
Timing and course of clinical response to intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy. 158
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 153
Subcutaneous immunoglobulins are a valuable treatment option in myasthenia gravis 153
Congenital myopathies: Clinical phenotypes and new diagnostic tools 153
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 149
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 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. 142
THE USE OF IVIG IN MOTOR MONONEUROPATHY (MM): DESCRIPTION OF TWO CASES. 142
Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trial. 142
Safety and tolerability of immune globulin intravenous in chronic inflammatory demyelinating polyradiculoneuropathy. 141
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. 141
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 140
Cellular and molecular differences between early and late onset myelin protein zero mutations 139
Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies 139
Immune Checkpoint Inhibitors-Related Myastenia Gravis, Myocarditis and Myositis: A Systematic Review of Cases 138
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 138
Is overwork weakness relevant in Charcot-Marie-Tooth disease? 138
Electrophysiology in chronic inflammatory demyelinating polyneuropathy with IGIV. 137
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism 135
Glycans of myelin proteins. 134
Neuromuscular and cardiac adverse events associated with immune checkpoint inhibitors: pooled analysis of individual cases from multiple institutions and literature 133
Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies 132
Gene symbol: GNE. Disease: Inclusion body myopathy. 132
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 131
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside 130
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. 129
Immunoelectron microscopy study of skin biopsies from patients with different types of Charcot-Marie-tooth neuropathy 129
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 129
Nerve conduction velocity in CMT1A: what else can we tell? 129
Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial 129
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 129
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 127
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry 127
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 126
Phenotipic clustering in MPZ mutations. 125
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 122
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 121
People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey 120
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 118
Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations 117
Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study 116
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 116
Intravenous versus subcutaneous immunoglobulin – Authors' reply 114
Comparison of Strength and Dexterity in Professional and Student Violinists: Setting Foundations to Guide Rehabilitation 114
Functional Characterization of Hyccin, a Novel Membrane Protein Involved in Central and Peripheral Myelination 110
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 109
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 108
Applicabilità dell’analisi fenotipica (radiomica) su immagini di RMN dei maggiori nervi dell’arto inferiore 108
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 106
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 104
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 103
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 101
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature 100
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 100
Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study 99
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. 97
Neuropatie diabetiche 94
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 93
Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT 92
Totale 14.768
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Categoria #
all - tutte 64.989
article - articoli 61.989
book - libri 0
conference - conferenze 3.000
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 129.978
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.176 0 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
2025/20266.086 676 181 338 477 752 477 904 363 416 609 437 456
2026/2027582 550 32 0 0 0 0 0 0 0 0 0 0
Totale 18.616