IRIS UniCatt

Bertini, Enrico Silvio
 Distribuzione geografica
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Continente #
NA - Nord America 4.965
EU - Europa 4.766
AS - Asia 4.517
SA - Sud America 933
AF - Africa 140
Continente sconosciuto - Info sul continente non disponibili 6
OC - Oceania 6
Totale 15.333
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Nazione #
US - Stati Uniti d'America 4.777
SG - Singapore 2.174
DE - Germania 1.431
CN - Cina 1.003
BR - Brasile 766
NL - Olanda 741
IT - Italia 674
SE - Svezia 526
FR - Francia 376
VN - Vietnam 364
GB - Regno Unito 203
IE - Irlanda 197
IN - India 172
ID - Indonesia 139
JP - Giappone 139
FI - Finlandia 128
RU - Federazione Russa 110
HK - Hong Kong 105
UA - Ucraina 105
CA - Canada 94
BD - Bangladesh 67
KR - Corea 67
PL - Polonia 66
AR - Argentina 57
TR - Turchia 56
MX - Messico 53
IQ - Iraq 44
ZA - Sudafrica 38
ES - Italia 33
EC - Ecuador 26
PK - Pakistan 26
CH - Svizzera 25
BE - Belgio 22
AT - Austria 21
IR - Iran 20
MA - Marocco 20
CO - Colombia 19
UZ - Uzbekistan 19
CZ - Repubblica Ceca 18
VE - Venezuela 18
SA - Arabia Saudita 17
TN - Tunisia 16
CI - Costa d'Avorio 15
EG - Egitto 15
IL - Israele 15
PA - Panama 14
PE - Perù 14
PY - Paraguay 12
KE - Kenya 11
AE - Emirati Arabi Uniti 10
LT - Lituania 10
UY - Uruguay 10
BG - Bulgaria 9
CL - Cile 9
CR - Costa Rica 9
TW - Taiwan 9
DK - Danimarca 8
NG - Nigeria 8
PH - Filippine 7
HR - Croazia 6
HU - Ungheria 6
JM - Giamaica 6
NP - Nepal 6
OM - Oman 6
TH - Thailandia 6
AL - Albania 5
JO - Giordania 5
KZ - Kazakistan 5
LB - Libano 5
MY - Malesia 5
NO - Norvegia 5
RS - Serbia 5
SK - Slovacchia (Repubblica Slovacca) 5
A2 - ???statistics.table.value.countryCode.A2??? 4
AM - Armenia 4
AU - Australia 4
AZ - Azerbaigian 4
BY - Bielorussia 4
GR - Grecia 4
RO - Romania 4
DZ - Algeria 3
EE - Estonia 3
ET - Etiopia 3
KG - Kirghizistan 3
LV - Lettonia 3
ME - Montenegro 3
PT - Portogallo 3
SY - Repubblica araba siriana 3
TT - Trinidad e Tobago 3
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BN - Brunei Darussalam 2
GE - Georgia 2
GT - Guatemala 2
HN - Honduras 2
LK - Sri Lanka 2
NZ - Nuova Zelanda 2
PS - Palestinian Territory 2
SC - Seychelles 2
TG - Togo 2
Totale 15.310
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Città #
Singapore 1.256
Amsterdam 700
Ashburn 610
San Jose 606
Chandler 536
Frankfurt am Main 281
New York 224
Beijing 186
Dublin 183
Hefei 182
Rome 166
Los Angeles 150
Tokyo 132
Jakarta 130
Lauterbourg 126
Ho Chi Minh City 125
Milan 119
Munich 109
Chicago 93
Dallas 93
Hong Kong 93
São Paulo 89
Hanoi 83
San Mateo 82
Moscow 75
Boston 66
Seoul 66
Helsinki 64
Houston 64
Marseille 63
The Dalles 59
Jacksonville 58
Wilmington 56
Council Bluffs 50
Buffalo 49
Kent 49
Nanjing 49
Ann Arbor 45
Nuremberg 44
Warsaw 44
Santa Clara 42
London 41
Princeton 39
Brooklyn 35
Dearborn 34
Orem 33
Atlanta 32
Bremen 32
Paris 31
Chennai 29
Redwood City 29
Denver 28
Toronto 27
Cattolica 26
Johannesburg 25
Seattle 25
Stockholm 25
Fairfield 24
Montreal 24
Poplar 24
Lawrence 23
Rio de Janeiro 23
Shanghai 23
Da Nang 21
Lancaster 21
Pune 21
Belo Horizonte 20
Lappeenranta 19
Phoenix 19
Turku 19
Woodbridge 19
Mumbai 18
Tashkent 18
Brussels 17
Düsseldorf 17
Hebei 17
Mexico City 17
San Francisco 17
Boardman 16
Izmir 16
Manchester 16
Nürnberg 16
Redmond 16
Washington 16
Abidjan 15
Columbus 15
Haiphong 15
Norwalk 15
Baghdad 14
Tianjin 14
Brasília 13
Guangzhou 13
Inverigo 13
Bexley 12
Brno 12
Changsha 12
Jiaxing 12
Lima 12
Palermo 12
Turin 12
Totale 8.516
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Nome #
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 949
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 642
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 498
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 175
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 174
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 169
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 165
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 164
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 164
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 163
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 163
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 160
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 159
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 158
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 154
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 153
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 152
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment 150
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence 150
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 149
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 146
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 146
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. 144
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 143
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 142
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 141
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 141
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 139
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 139
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy 137
Congenital muscular dystrophies with cognitive impairment. A population study 137
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 137
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 135
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 133
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 133
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study 133
6 minute walk test in duchenne MD patients with different mutations:12 month changes 133
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 133
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 132
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 131
Early treatment of type II SMA slows rate of progression of scoliosis 130
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 130
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 129
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? 126
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 125
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study 125
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies 124
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 124
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants 123
The empowerment of translational research: lessons from laminopathies 122
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. 119
Genetic modifiers of upper limb function in Duchenne muscular dystrophy 118
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 117
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 117
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 116
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 115
Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report 114
Clinical Variability in Spinal Muscular Atrophy Type III. 113
Histological effects of givinostat in boys with Duchenne muscular dystrophy 110
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". 110
Longitudinal natural history in young boys with Duchenne muscular dystrophy 109
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review 108
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 107
An observational study of functional abilities in infants, children, and adults with type 1 SMA 106
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 106
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 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? 105
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 105
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 105
MRI in sarcoglycanopathies: a large international cohort study 103
Development of an academic disease registry for spinal muscular atrophy 102
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases 99
Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters 96
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 96
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 95
'Behr syndrome' with OPA1 compound heterozygote mutations 95
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 94
An observational study of functional abilities in infants, children, and adults with type 1 SMA 93
The genetic basis of undiagnosed muscular dystrophies and myopathies 92
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 92
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) 91
MRI in sarcoglycanopathies: A large international cohort study 91
Long term follow-up of scoliosis progression in type II SMA patients 90
Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells 90
The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia 90
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 89
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study 87
Congenital myopathies: Clinical phenotypes and new diagnostic tools 86
Old measures and new scores in spinal muscular atrophy patients 86
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 86
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 85
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 84
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 82
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy 81
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 78
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) 77
Erratum: Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes (PLoS ONE (2015) 10:12 (e0144079)) 75
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 75
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 75
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 74
Totale 13.658
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Categoria #
all - tutte 63.285
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 63.285
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202159 0 0 0 0 0 0 0 0 0 0 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
2025/20268.060 903 242 503 904 1.330 1.892 1.145 302 418 403 18 0
Totale 15.527