IRIS
RUGGIERO, LUCIA
 Distribuzione geografica
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Continente #
AS - Asia 2.496
EU - Europa 2.131
NA - Nord America 1.997
SA - Sud America 443
AF - Africa 73
OC - Oceania 5
Totale 7.145
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Nazione #
US - Stati Uniti d'America 1.901
SG - Singapore 1.349
RU - Federazione Russa 1.031
CN - Cina 586
IT - Italia 525
BR - Brasile 367
HK - Hong Kong 229
VN - Vietnam 152
DE - Germania 116
NL - Olanda 103
FI - Finlandia 89
CA - Canada 51
FR - Francia 43
GB - Regno Unito 43
IN - India 41
UA - Ucraina 41
IE - Irlanda 40
AR - Argentina 35
MX - Messico 29
BD - Bangladesh 22
PL - Polonia 22
CI - Costa d'Avorio 20
KR - Corea 20
ZA - Sudafrica 20
SE - Svezia 19
EC - Ecuador 14
ES - Italia 12
ID - Indonesia 12
JP - Giappone 12
LT - Lituania 10
PK - Pakistan 10
TR - Turchia 10
IQ - Iraq 9
AT - Austria 8
TN - Tunisia 8
BG - Bulgaria 7
KE - Kenya 7
BE - Belgio 6
CO - Colombia 6
PE - Perù 6
UZ - Uzbekistan 6
VE - Venezuela 6
MA - Marocco 5
PA - Panama 5
CL - Cile 4
IL - Israele 4
IR - Iran 4
JM - Giamaica 4
UY - Uruguay 4
AE - Emirati Arabi Uniti 3
AU - Australia 3
BA - Bosnia-Erzegovina 3
GR - Grecia 3
JO - Giordania 3
KZ - Kazakistan 3
LB - Libano 3
CH - Svizzera 2
DZ - Algeria 2
HU - Ungheria 2
PS - Palestinian Territory 2
RS - Serbia 2
SN - Senegal 2
TH - Thailandia 2
ZM - Zambia 2
AO - Angola 1
AZ - Azerbaigian 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BW - Botswana 1
CM - Camerun 1
CR - Costa Rica 1
CU - Cuba 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
DM - Dominica 1
EG - Egitto 1
GN - Guinea 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
KG - Kirghizistan 1
KW - Kuwait 1
LC - Santa Lucia 1
LK - Sri Lanka 1
MU - Mauritius 1
MY - Malesia 1
NC - Nuova Caledonia 1
NI - Nicaragua 1
NP - Nepal 1
NZ - Nuova Zelanda 1
QA - Qatar 1
RO - Romania 1
SA - Arabia Saudita 1
SY - Repubblica araba siriana 1
TJ - Tagikistan 1
TW - Taiwan 1
YE - Yemen 1
YT - Mayotte 1
Totale 7.145
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Città #
Singapore 660
Hong Kong 226
Beijing 217
Moscow 216
Chandler 208
Ashburn 177
Santa Clara 155
Naples 145
Hefei 121
Dallas 84
Amsterdam 79
Los Angeles 59
Millbury 57
Ho Chi Minh City 56
Munich 46
Napoli 45
Boston 40
Redondo Beach 39
New York 33
São Paulo 32
Princeton 31
Seattle 31
Lawrence 30
Des Moines 29
Hanoi 29
Wilmington 29
Helsinki 27
Chicago 24
Nanjing 24
Ottawa 24
The Dalles 24
Jacksonville 23
Lappeenranta 22
Buffalo 19
Rome 19
Seoul 19
Brooklyn 16
Turku 16
Atlanta 15
Denver 15
Tianjin 15
Warsaw 15
Frankfurt am Main 13
Mexico City 13
Casoria 12
Shenyang 12
Stockholm 12
Tokyo 12
Brasília 11
Dearborn 11
Florence 11
Orem 11
Querétaro 11
Montreal 10
Nuremberg 10
Dublin 9
Falkenstein 9
Hebei 9
Rio de Janeiro 9
Toronto 9
Belo Horizonte 8
Curitiba 8
Dong Ket 8
Haiphong 8
Houston 8
Johannesburg 8
Milan 8
Poplar 8
Porto Alegre 8
Ankara 7
Chennai 7
Guarulhos 7
Guayaquil 7
London 7
Nairobi 7
Nanchang 7
Campinas 6
Norwalk 6
Redwood City 6
Sofia 6
Angri 5
Boardman 5
Da Nang 5
Düsseldorf 5
Fairfield 5
Jiaxing 5
Manchester 5
Mumbai 5
Panama City 5
Paris 5
Pisa 5
Quarto 5
Salvador 5
Secaucus 5
Vienna 5
Woodbridge 5
Arezzo 4
Baghdad 4
Biên Hòa 4
Bắc Giang 4
Totale 3.626
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Nome #
Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH 188
microRNAs as biomarkers in Pompe disease 157
Anodal transcranial direct current stimulation of motor cortex does not ameliorate spasticity in multiple sclerosis 156
Electrophysiological characterization of adult-onset Niemann?Pick type C disease 154
Electrophysiological comparison between males and females in HNPP. 151
Early predictive factors of disability in CIDP 149
Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP 137
Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1a patients 134
Muscle fiber type disproportion (FTD) in a family with mutations in theLMNAgene 132
Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy 132
Electrophysiological characterisation in hereditary spastic paraplegia type 5. 130
Skin innervation across amyotrophic lateral sclerosis clinical stages: new prognostic biomarkers 128
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report 126
Different cortical excitability profiles in hereditary brain iron and copper accumulation 119
A rare mutation in MYH7 gene occurs with overlapping phenotype. 118
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? 115
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature 113
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy 112
Alemtuzumab in Covid era 111
Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: A case report 110
A 5-year clinical follow-up study from the Italian National Registry for FSHD 110
Thermosensitive hereditary neuropathy with liability to pressure palsy. 109
Congenital myopathies: Clinical phenotypes and new diagnostic tools 109
Reversible valproate-induced subacute encephalopathy associated with a MT-ATP8 variant in the mitochondrial genome 106
Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report 105
The genetic basis of undiagnosed muscular dystrophies and myopathies 103
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 102
Vein wall thickness and severity of pulmonary involvement due to sars n-cov2 virus infection 101
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry 100
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 100
Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience 98
Value of Antibody Determinations in Chronic Dysimmune Neuropathies 96
RYR1 sequence variants in myopathies: expression and functional studies in two families 95
Clonus of the lower jaw: An old sign that comes back 94
Early changes of myocardial deformation properties in patients with dystrophia myotonica type 1: A three-dimensional Speckle Tracking echocardiographic study 94
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort 93
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings 93
The neuropathy in hereditary transthyretin amyloidosis: A narrative review 93
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy 91
A review of current rehabilitation practices and their benefits in patients with multiple sclerosis 91
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 90
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 90
One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better? 87
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 86
Pregnancy experience in women with spinal muscular atrophy: a case series 85
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations 85
Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations 84
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network 83
Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy 82
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. 82
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease 81
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice 78
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes 78
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 78
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients 76
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease 74
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 74
Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination 72
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study 71
BDNF polymorphism and interhemispheric balance of motor cortex excitability: a preliminary study 65
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 64
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients 64
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey 61
Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function 58
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 57
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 57
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies 56
Clinical features of Pompe disease. 56
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 56
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 56
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 55
Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort 54
Teaching video neuroimages: clonus of the lower jaw: an old sign that comes back 53
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 51
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 49
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction 49
Muscle pain syndromes and fibromyalgia: the role of muscle biopsy 47
Personality traits associated with blepharospasm: A comparison with healthy subjects, patients with facial hemispasm and patients with hyperhidrosis 46
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 36
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa 16
Italian validation of the SMA independence scale-upper limb module 9
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy 6
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form 5
Totale 7.317
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Categoria #
all - tutte 23.511
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 23.511
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202176 0 0 0 0 0 18 5 1 11 20 13 8
2021/2022333 3 1 5 4 1 13 5 15 50 38 71 127
2022/2023566 68 49 20 26 70 59 10 56 75 79 41 13
2023/2024440 34 47 87 26 18 39 14 46 4 8 80 37
2024/20252.468 109 119 22 40 88 130 318 169 129 277 877 190
2025/20262.898 481 373 563 457 896 128 0 0 0 0 0 0
Totale 7.317