IRIS
RUGGIERO, LUCIA
 Distribuzione geografica
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Continente #
NA - Nord America 944
EU - Europa 619
AS - Asia 133
AF - Africa 19
OC - Oceania 1
Totale 1.716
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Nazione #
US - Stati Uniti d'America 919
IT - Italia 389
CN - Cina 112
NL - Olanda 79
IE - Irlanda 36
UA - Ucraina 27
CA - Canada 25
FI - Finlandia 23
CI - Costa d'Avorio 19
DE - Germania 19
FR - Francia 10
IN - India 8
VN - Vietnam 8
GB - Regno Unito 7
SE - Svezia 7
PL - Polonia 6
BG - Bulgaria 5
BE - Belgio 4
GR - Grecia 3
RU - Federazione Russa 3
IR - Iran 2
AU - Australia 1
HK - Hong Kong 1
HU - Ungheria 1
SG - Singapore 1
TR - Turchia 1
Totale 1.716
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Città #
Chandler 208
Naples 108
Amsterdam 70
Millbury 57
Ashburn 56
Napoli 45
Beijing 31
Boston 31
Princeton 31
Lawrence 30
Des Moines 29
Wilmington 29
Nanjing 24
Ottawa 24
Jacksonville 23
Seattle 22
Casoria 12
Rome 12
Shenyang 12
Dearborn 11
Hebei 9
Dong Ket 8
Nanchang 7
Norwalk 6
Redwood City 6
Angri 5
Dublin 5
Fairfield 5
Houston 5
Jiaxing 5
Quarto 5
Sofia 5
Woodbridge 5
Boardman 4
Tianjin 4
Waanrode 4
Washington 4
Cerro Maggiore 3
Guangzhou 3
Leiden 3
Linköping 3
Milan 3
Pozzuoli 3
Pune 3
Sant'arpino 3
Wuhan 3
Zhengzhou 3
Ardabil 2
Arzano 2
Athens 2
Bellona 2
Boscotrecase 2
Carrù 2
Casalnuovo di Napoli 2
Castellammare Di Stabia 2
Castellammare di Stabia 2
Cava de' Tirreni 2
Chandigarh 2
Chengdu 2
Gdansk 2
Hefei 2
Kunming 2
Melito di Napoli 2
Newark 2
Poggiomarino 2
Portici 2
Reggio Nell'emilia 2
Shenzhen 2
Torre Annunziata 2
Acquaviva delle Fonti 1
Afragola 1
Alma 1
Ankara 1
Ann Arbor 1
Arezzo 1
Arzignano 1
Atella 1
Atena Lucana 1
Augusta 1
Avellino 1
Besançon 1
Brossard 1
Budapest 1
Cantalupo in Sabina 1
Carinaro 1
Carmel 1
Carpi 1
Caserta 1
Catania 1
Central District 1
Changsha 1
Chicago 1
Crispano 1
Edinburgh 1
Falls Church 1
Favara 1
Formia 1
Frankfurt 1
Frattaminore 1
Fremont 1
Totale 1.062
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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 82
Anodal transcranial direct current stimulation of motor cortex does not ameliorate spasticity in multiple sclerosis 65
Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1a patients 65
Electrophysiological characterization of adult-onset Niemann?Pick type C disease 61
microRNAs as biomarkers in Pompe disease 59
Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP 53
Muscle fiber type disproportion (FTD) in a family with mutations in theLMNAgene 46
A rare mutation in MYH7 gene occurs with overlapping phenotype. 46
Early predictive factors of disability in CIDP 45
Different cortical excitability profiles in hereditary brain iron and copper accumulation 44
Autoimmune autonomic ganglionopathy: a possible postganglionic neuropathy 43
Electrophysiological characterisation in hereditary spastic paraplegia type 5. 43
RYR1 sequence variants in myopathies: expression and functional studies in two families 41
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease? 39
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report 39
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort 37
A 5-year clinical follow-up study from the Italian National Registry for FSHD 37
Alemtuzumab in Covid era 35
Clonus of the lower jaw: An old sign that comes back 34
Congenital myopathies: Clinical phenotypes and new diagnostic tools 33
Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: A case report 33
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders 32
Thermosensitive hereditary neuropathy with liability to pressure palsy. 31
The genetic basis of undiagnosed muscular dystrophies and myopathies 31
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry 31
Electrophysiological comparison between males and females in HNPP. 30
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 29
Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report 29
Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination 28
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 27
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings 25
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 24
Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort 23
Reversible valproate-induced subacute encephalopathy associated with a MT-ATP8 variant in the mitochondrial genome 22
Teaching video neuroimages: clonus of the lower jaw: an old sign that comes back 21
Early changes of myocardial deformation properties in patients with dystrophia myotonica type 1: A three-dimensional Speckle Tracking echocardiographic study 21
Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy 21
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature 20
One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better? 20
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients 20
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations 19
Clinical features of Pompe disease. 18
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes 18
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 17
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study 17
A review of current rehabilitation practices and their benefits in patients with multiple sclerosis 17
Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience 16
Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations 16
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 16
The neuropathy in hereditary transthyretin amyloidosis: A narrative review 16
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction 15
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease 15
BDNF polymorphism and interhemispheric balance of motor cortex excitability: a preliminary study 15
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. 14
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy 14
Muscle pain syndromes and fibromyalgia: the role of muscle biopsy 14
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 14
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease 14
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 13
Personality traits associated with blepharospasm: A comparison with healthy subjects, patients with facial hemispasm and patients with hyperhidrosis 11
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 11
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy 10
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey 10
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 8
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 6
Value of Antibody Determinations in Chronic Dysimmune Neuropathies 5
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients 5
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies 3
Totale 1.832
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Categoria #
all - tutte 7.265
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 7.265
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201915 0 0 0 0 0 0 0 0 0 3 7 5
2019/2020224 62 3 10 6 8 18 28 7 3 28 24 27
2020/2021134 15 7 9 13 14 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
2023/2024321 34 47 87 26 18 39 14 46 4 6 0 0
Totale 1.832