IRIS UniCatt

Bertini, Enrico Silvio
 Distribuzione geografica
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Continente #
NA - Nord America 3.945
AS - Asia 3.652
EU - Europa 3.059
SA - Sud America 881
AF - Africa 119
Continente sconosciuto - Info sul continente non disponibili 6
OC - Oceania 6
Totale 11.668
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Nazione #
US - Stati Uniti d'America 3.776
SG - Singapore 1.800
CN - Cina 919
DE - Germania 745
BR - Brasile 736
IT - Italia 562
SE - Svezia 525
FR - Francia 232
IE - Irlanda 189
GB - Regno Unito 186
VN - Vietnam 170
IN - India 149
ID - Indonesia 135
FI - Finlandia 112
RU - Federazione Russa 110
UA - Ucraina 100
CA - Canada 85
HK - Hong Kong 72
KR - Corea 67
PL - Polonia 60
JP - Giappone 54
BD - Bangladesh 53
NL - Olanda 51
TR - Turchia 51
AR - Argentina 50
MX - Messico 50
IQ - Iraq 36
ZA - Sudafrica 35
ES - Italia 29
BE - Belgio 22
CH - Svizzera 22
EC - Ecuador 22
PK - Pakistan 21
AT - Austria 20
IR - Iran 20
MA - Marocco 19
CO - Colombia 17
CZ - Repubblica Ceca 17
VE - Venezuela 15
CI - Costa d'Avorio 14
PA - Panama 14
UZ - Uzbekistan 14
IL - Israele 13
TN - Tunisia 13
PY - Paraguay 12
EG - Egitto 11
PE - Perù 11
SA - Arabia Saudita 11
KE - Kenya 10
LT - Lituania 10
UY - Uruguay 10
AE - Emirati Arabi Uniti 9
TW - Taiwan 9
CL - Cile 8
BG - Bulgaria 7
CR - Costa Rica 7
DK - Danimarca 7
HU - Ungheria 6
HR - Croazia 5
LB - Libano 5
NG - Nigeria 5
NO - Norvegia 5
NP - Nepal 5
RS - Serbia 5
A2 - ???statistics.table.value.countryCode.A2??? 4
AM - Armenia 4
AU - Australia 4
BY - Bielorussia 4
JO - Giordania 4
KZ - Kazakistan 4
RO - Romania 4
SK - Slovacchia (Repubblica Slovacca) 4
TH - Thailandia 4
AL - Albania 3
EE - Estonia 3
GR - Grecia 3
JM - Giamaica 3
KG - Kirghizistan 3
LV - Lettonia 3
TT - Trinidad e Tobago 3
AZ - Azerbaigian 2
BH - Bahrain 2
BN - Brunei Darussalam 2
DZ - Algeria 2
HN - Honduras 2
LK - Sri Lanka 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PH - Filippine 2
PS - Palestinian Territory 2
PT - Portogallo 2
SC - Seychelles 2
SY - Repubblica araba siriana 2
TG - Togo 2
XK - ???statistics.table.value.countryCode.XK??? 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BW - Botswana 1
DM - Dominica 1
Totale 11.652
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Città #
Singapore 914
Ashburn 536
Chandler 536
Frankfurt am Main 258
New York 217
Hefei 182
Dublin 177
Beijing 176
Los Angeles 144
Jakarta 129
Rome 128
Milan 114
Munich 109
Dallas 90
São Paulo 85
Chicago 83
San Mateo 82
Moscow 75
Hong Kong 68
Boston 66
Seoul 66
Ho Chi Minh City 63
Houston 63
Marseille 61
Jacksonville 58
Wilmington 56
Helsinki 51
Kent 49
Nanjing 48
Tokyo 47
Buffalo 46
Ann Arbor 45
Nuremberg 43
Princeton 39
Warsaw 39
London 38
Dearborn 34
Bremen 32
Brooklyn 32
Hanoi 32
Redwood City 29
Santa Clara 29
Denver 28
The Dalles 28
Atlanta 27
Cattolica 26
Orem 26
Chennai 25
Seattle 25
Toronto 25
Fairfield 24
Poplar 24
Stockholm 24
Johannesburg 23
Lawrence 23
Montreal 23
Lancaster 21
Pune 21
Rio de Janeiro 21
Belo Horizonte 19
Phoenix 19
Turku 19
Woodbridge 19
Shanghai 18
Amsterdam 17
Brussels 17
Düsseldorf 17
Hebei 17
Lappeenranta 17
San Francisco 17
Boardman 16
Izmir 16
Nürnberg 16
Redmond 16
Columbus 15
Mexico City 15
Norwalk 15
Washington 15
Abidjan 14
Manchester 14
Mumbai 14
Paris 14
Brasília 13
Inverigo 13
Tashkent 13
Tianjin 13
Bexley 12
Brno 12
Changsha 12
Jiaxing 12
Palermo 12
Curitiba 11
Falkenstein 11
Jinan 11
Mountain View 11
Nanchang 11
Salvador 11
Shenyang 11
Lima 10
New Delhi 10
Totale 6.168
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Nome #
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial 278
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 246
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 153
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 150
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 147
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 142
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 138
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 137
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 137
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 136
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 135
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 134
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 133
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 133
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 132
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 132
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 131
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 130
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 129
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 127
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 125
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment 124
Congenital muscular dystrophies with cognitive impairment. A population study 124
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy 123
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. 122
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 122
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 119
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 119
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 119
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study 117
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 116
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 116
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 116
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence 116
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 115
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 115
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 114
6 minute walk test in duchenne MD patients with different mutations:12 month changes 113
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies 112
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 109
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 107
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 106
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 105
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 105
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 105
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability? 104
Early treatment of type II SMA slows rate of progression of scoliosis 103
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 103
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues". 103
The empowerment of translational research: lessons from laminopathies 103
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study 103
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 102
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants 101
Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report 100
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. 99
Histological effects of givinostat in boys with Duchenne muscular dystrophy 97
Longitudinal natural history in young boys with Duchenne muscular dystrophy 97
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 95
Genetic modifiers of upper limb function in Duchenne muscular dystrophy 94
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 94
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 94
Clinical Variability in Spinal Muscular Atrophy Type III. 94
MRI in sarcoglycanopathies: a large international cohort study 93
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 92
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 91
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review 90
Development of an academic disease registry for spinal muscular atrophy 90
An observational study of functional abilities in infants, children, and adults with type 1 SMA 87
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 87
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 86
'Behr syndrome' with OPA1 compound heterozygote mutations 85
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 84
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases 83
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 81
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 81
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability? 80
Long term follow-up of scoliosis progression in type II SMA patients 77
The genetic basis of undiagnosed muscular dystrophies and myopathies 76
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 75
An observational study of functional abilities in infants, children, and adults with type 1 SMA 74
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 73
Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters 72
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 72
Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study (Neurology and Therapy, (2023), 12, 2, (543-557), 10.1007/s40120-023-00444-1) 72
MRI in sarcoglycanopathies: A large international cohort study 71
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study 71
Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells 70
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 (PLoS ONE (2019) 14:6 (e0218683) DOI: 10.1371/journal.pone.0218683) 70
Old measures and new scores in spinal muscular atrophy patients 69
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 68
Congenital myopathies: Clinical phenotypes and new diagnostic tools 68
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 67
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 66
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods 65
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy 64
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 64
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 62
Erratum: Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes (PLoS ONE (2015) 10:12 (e0144079)) 60
An observational study of functional abilities in infants, children, and adults with type 1 SMA 59
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 58
Totale 10.403
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Categoria #
all - tutte 56.455
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 56.455
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021183 0 0 0 0 0 25 41 10 29 19 55 4
2021/2022604 40 14 8 46 40 29 15 109 33 61 103 106
2022/20231.669 161 187 113 250 109 217 100 152 189 58 86 47
2023/20241.382 52 280 51 84 51 225 183 38 15 55 157 191
2024/20252.672 68 59 209 92 230 118 109 126 356 200 596 509
2025/20264.354 903 242 503 904 1.330 472 0 0 0 0 0 0
Totale 11.821