IRIS
RUGGIERO, LUCIA
 Distribuzione geografica
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Continente #
AS - Asia 3.326
NA - Nord America 3.176
EU - Europa 2.401
SA - Sud America 480
Continente sconosciuto - Info sul continente non disponibili 177
AF - Africa 88
OC - Oceania 7
Totale 9.655
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Nazione #
US - Stati Uniti d'America 3.023
SG - Singapore 1.430
RU - Federazione Russa 1.033
CN - Cina 663
IT - Italia 640
VN - Vietnam 569
BR - Brasile 386
HK - Hong Kong 264
FR - Francia 127
DE - Germania 124
NL - Olanda 114
FI - Finlandia 91
CA - Canada 82
BD - Bangladesh 78
IN - India 60
GB - Regno Unito 57
JP - Giappone 51
UA - Ucraina 43
IE - Irlanda 42
AR - Argentina 37
MX - Messico 31
KR - Corea 29
IQ - Iraq 24
PL - Polonia 23
ZA - Sudafrica 23
CI - Costa d'Avorio 20
PH - Filippine 20
SE - Svezia 20
TH - Thailandia 20
PK - Pakistan 18
TR - Turchia 18
EC - Ecuador 17
ID - Indonesia 15
RO - Romania 15
AT - Austria 12
ES - Italia 12
JM - Giamaica 12
LT - Lituania 12
CO - Colombia 9
KE - Kenya 9
TW - Taiwan 9
VE - Venezuela 9
BG - Bulgaria 8
TN - Tunisia 8
UZ - Uzbekistan 8
CL - Cile 7
JO - Giordania 7
PE - Perù 7
BE - Belgio 6
CR - Costa Rica 6
DZ - Algeria 6
UY - Uruguay 6
MA - Marocco 5
PA - Panama 5
AU - Australia 4
IL - Israele 4
IR - Iran 4
KZ - Kazakistan 4
MY - Malesia 4
AE - Emirati Arabi Uniti 3
BA - Bosnia-Erzegovina 3
BB - Barbados 3
CH - Svizzera 3
EG - Egitto 3
GR - Grecia 3
GT - Guatemala 3
HN - Honduras 3
HR - Croazia 3
LB - Libano 3
PS - Palestinian Territory 3
SA - Arabia Saudita 3
CZ - Repubblica Ceca 2
DK - Danimarca 2
HU - Ungheria 2
NZ - Nuova Zelanda 2
QA - Qatar 2
RS - Serbia 2
SC - Seychelles 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
ZM - Zambia 2
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
BW - Botswana 1
CG - Congo 1
CM - Camerun 1
CU - Cuba 1
CY - Cipro 1
DM - Dominica 1
GD - Grenada 1
GE - Georgia 1
GN - Guinea 1
KG - Kirghizistan 1
KW - Kuwait 1
LC - Santa Lucia 1
Totale 9.466
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Città #
Singapore 707
San Jose 548
Ashburn 277
Hong Kong 244
Beijing 229
Moscow 217
Chandler 208
Ho Chi Minh City 176
Santa Clara 173
Naples 172
Hanoi 124
Hefei 122
Amsterdam 87
Dallas 87
Council Bluffs 86
The Dalles 76
Los Angeles 75
Lauterbourg 72
Millbury 57
New York 47
Munich 46
Tokyo 46
Napoli 45
Boston 43
São Paulo 40
Redondo Beach 39
Des Moines 31
Princeton 31
Seattle 31
Lawrence 30
Rome 30
Chicago 29
Wilmington 29
Helsinki 28
Buffalo 27
Orem 27
Jacksonville 25
Nanjing 25
Phoenix 25
Haiphong 24
Ottawa 24
Lappeenranta 23
Frankfurt am Main 20
Seoul 20
Atlanta 19
Da Nang 19
Denver 19
Brooklyn 18
Turku 16
Warsaw 16
Montreal 15
Tianjin 15
Toronto 15
Bucharest 13
Mexico City 13
Milan 13
Stockholm 13
Casoria 12
Chennai 12
Shenyang 12
Brasília 11
Dearborn 11
Dublin 11
Florence 11
Nuremberg 11
Querétaro 11
Johannesburg 10
Poplar 10
Ankara 9
Baghdad 9
Falkenstein 9
Guayaquil 9
Hebei 9
Houston 9
Hải Dương 9
London 9
Nairobi 9
Rio de Janeiro 9
Bangkok 8
Belo Horizonte 8
Biên Hòa 8
Can Tho 8
Curitiba 8
Dong Ket 8
Kingston 8
Paris 8
Porto Alegre 8
Guarulhos 7
Nanchang 7
Sofia 7
Washington 7
Amman 6
Bắc Giang 6
Campinas 6
Lahore 6
Manchester 6
Mumbai 6
Norwalk 6
Redwood City 6
San Francisco 6
Totale 5.092
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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 214
Vein wall thickness and severity of pulmonary involvement due to sars n-cov2 virus infection 202
microRNAs as biomarkers in Pompe disease 194
Anodal transcranial direct current stimulation of motor cortex does not ameliorate spasticity in multiple sclerosis 193
Early predictive factors of disability in CIDP 188
Electrophysiological comparison between males and females in HNPP. 185
Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy 178
Electrophysiological characterization of adult-onset Niemann?Pick type C disease 176
Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP 174
Muscle fiber type disproportion (FTD) in a family with mutations in theLMNAgene 165
Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1a patients 163
Skin innervation across amyotrophic lateral sclerosis clinical stages: new prognostic biomarkers 162
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report 157
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy 154
Electrophysiological characterisation in hereditary spastic paraplegia type 5. 154
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? 150
A rare mutation in MYH7 gene occurs with overlapping phenotype. 143
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 142
Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: A case report 142
Congenital myopathies: Clinical phenotypes and new diagnostic tools 141
Different cortical excitability profiles in hereditary brain iron and copper accumulation 138
Reversible valproate-induced subacute encephalopathy associated with a MT-ATP8 variant in the mitochondrial genome 137
Alemtuzumab in Covid era 136
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature 135
A review of current rehabilitation practices and their benefits in patients with multiple sclerosis 135
Thermosensitive hereditary neuropathy with liability to pressure palsy. 134
The genetic basis of undiagnosed muscular dystrophies and myopathies 133
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 132
Pregnancy experience in women with spinal muscular atrophy: a case series 131
A 5-year clinical follow-up study from the Italian National Registry for FSHD 130
Value of Antibody Determinations in Chronic Dysimmune Neuropathies 126
Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy 124
Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report 123
Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience 122
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry 121
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 120
The neuropathy in hereditary transthyretin amyloidosis: A narrative review 120
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network 119
RYR1 sequence variants in myopathies: expression and functional studies in two families 118
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy 117
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 116
Early changes of myocardial deformation properties in patients with dystrophia myotonica type 1: A three-dimensional Speckle Tracking echocardiographic study 115
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations 114
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort 113
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. 112
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 112
Clonus of the lower jaw: An old sign that comes back 111
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 111
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease 111
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice 108
One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better? 108
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings 107
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients 107
Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations 106
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes 102
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease 101
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 101
Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination 98
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 97
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study 89
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 88
BDNF polymorphism and interhemispheric balance of motor cortex excitability: a preliminary study 88
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 84
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey 83
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients 82
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 80
Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function 78
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 77
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 76
Clinical features of Pompe disease. 74
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies 71
Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort 71
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 70
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 68
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction 66
Teaching video neuroimages: clonus of the lower jaw: an old sign that comes back 64
Muscle pain syndromes and fibromyalgia: the role of muscle biopsy 64
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa 62
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 62
Personality traits associated with blepharospasm: A comparison with healthy subjects, patients with facial hemispasm and patients with hyperhidrosis 59
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form 39
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology 28
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy 27
Italian validation of the SMA independence scale-upper limb module 27
Totale 9.655
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Categoria #
all - tutte 31.130
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 31.130
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022329 0 0 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
2025/20264.883 481 373 563 457 896 188 488 325 555 285 126 146
2026/2027353 128 199 26 0 0 0 0 0 0 0 0 0
Totale 9.655