IRIS
GRANDIS, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 13.125
AS - Asia 105
SA - Sud America 22
NA - Nord America 2
Totale 13.254
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Nazione #
IT - Italia 13.125
CN - Cina 70
SG - Singapore 19
BR - Brasile 16
VN - Vietnam 13
PY - Paraguay 2
US - Stati Uniti d'America 2
VE - Venezuela 2
AR - Argentina 1
ID - Indonesia 1
IQ - Iraq 1
PK - Pakistan 1
UY - Uruguay 1
Totale 13.254
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Città #
Genova 6.557
Genoa 4.350
Vado Ligure 1.127
Rapallo 1.061
Beijing 30
Bordighera 29
Singapore 7
Hanoi 5
Bắc Ninh 3
Ho Chi Minh City 3
São Paulo 2
Thái Bình 2
Alto Paraíso de Goiás 1
Arroio Grande 1
Ashburn 1
Bojonegoro 1
Caetanópolis 1
Candeias 1
Ciudad del Este 1
Córdoba 1
Juiz de Fora 1
Juti 1
Lago da Pedra 1
Maceió 1
Maracaibo 1
Maturín 1
Montevideo 1
Pedro Leopoldo 1
Rawalpindi 1
Rio Claro 1
San Lorenzo 1
Santa Clara 1
Sulaymaniyah 1
São Bernardo do Campo 1
São José do Rio Preto 1
São José dos Pinhais 1
Uberaba 1
Totale 13.201
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Nome #
Dysimmune mononeuropathies: A diagnosis not to be missed 206
Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease. 178
Acute disseminated encephalomyelitis with severe neurological outcomes following virosomal seasonal influenza vaccine 176
Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study 164
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 162
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 161
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. 160
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. 159
Mycophenolate mofetil in dysimmune neuropathies: a preliminary study. 159
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 157
Guillain-Barré syndrome following chickenpox: A case series 157
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 156
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations 153
Relapses after treatment with rituximab in a patient with multiple sclerosis and anti myelin-associated glycoprotein polyneuropathy. 152
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 152
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 151
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 151
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 150
Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease. 147
PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A. 146
Early electophysiological changes in transgenic rat model of charcot-marie-tooth. 145
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 145
Different movement disorders responsive to carbamazepine in patients with brainstem focal lesions 143
Electrophysiologic correlations with clinical outcomes in CIDP. 143
Impaired expression of ciliary neurotrophic factor in Charcot-Marie-Tooth type 1A neuropathy 143
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 142
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area 142
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 141
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 141
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. 139
Contribution of copy number variations in CMT1X: a retrospective study. 139
Insulin treatment enhances expression of IGF-I in sural nerves of diabetic patients. 138
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 138
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 136
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 135
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). 134
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 131
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation 130
Genotype-Phenotype correlations of MPZ mutations 128
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. 127
Subcutaneous immunoglobulins are a valuable treatment option in myasthenia gravis 125
Current Therapy for Charcot-Marie-Tooth Disease. 122
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 119
Is overwork weakness relevant in Charcot-Marie-Tooth disease? 119
Congenital myopathies: Clinical phenotypes and new diagnostic tools 119
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 119
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 116
Timing and course of clinical response to intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy. 114
Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies 113
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside 113
Understanding the consequences of chronic inflammatory demyelinating polyradiculoneuropathy from impairments to activity and participation restrictions and reduced quality of life: the ICE study. 113
Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trial. 113
Glycans of myelin proteins. 112
Safety and tolerability of immune globulin intravenous in chronic inflammatory demyelinating polyradiculoneuropathy. 111
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M. 110
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 110
Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial 108
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 108
Phenotipic clustering in MPZ mutations. 107
Electrophysiology in chronic inflammatory demyelinating polyneuropathy with IGIV. 107
Cellular and molecular differences between early and late onset myelin protein zero mutations 106
THE USE OF IVIG IN MOTOR MONONEUROPATHY (MM): DESCRIPTION OF TWO CASES. 106
Immune Checkpoint Inhibitors-Related Myastenia Gravis, Myocarditis and Myositis: A Systematic Review of Cases 105
Gene symbol: GNE. Disease: Inclusion body myopathy. 105
Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies 102
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 101
Immunoelectron microscopy study of skin biopsies from patients with different types of Charcot-Marie-tooth neuropathy 99
Nerve conduction velocity in CMT1A: what else can we tell? 97
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 96
Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations 95
Comparison of Strength and Dexterity in Professional and Student Violinists: Setting Foundations to Guide Rehabilitation 95
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 94
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry 92
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 91
Intravenous versus subcutaneous immunoglobulin – Authors' reply 91
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 89
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 88
Functional Characterization of Hyccin, a Novel Membrane Protein Involved in Central and Peripheral Myelination 88
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism 88
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 84
Applicabilità dell’analisi fenotipica (radiomica) su immagini di RMN dei maggiori nervi dell’arto inferiore 82
Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study 81
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 81
People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey 81
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 79
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. 77
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 76
Neuropatie diabetiche 76
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 75
Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study 74
Neuromuscular and cardiac adverse events associated with immune checkpoint inhibitors: pooled analysis of individual cases from multiple institutions and literature 74
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 74
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 68
Validation of a new hand function outcome measure in individuals with Charcot-Marie-Tooth disease 68
A case of anti-HMGCR myopathy triggered by sodium/glucose co-transporter 2 (SGLT2) inhibitors 68
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature 65
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 65
Outcomes after single-cycle rituximab monotherapy in patients with anti-MAG polyneuropathy: A bi-center experience with an average follow-up of 11 years 65
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 65
Inherited neuropathies. 63
Totale 11.604
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Categoria #
all - tutte 51.244
article - articoli 48.768
book - libri 0
conference - conferenze 2.476
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 102.488
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021719 0 0 0 112 47 52 101 80 75 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
2025/20261.645 676 181 338 450 0 0 0 0 0 0 0 0
Totale 13.593