IRIS UniCatt

Bertini, Enrico Silvio
 Distribuzione geografica
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Continente #
NA - Nord America 7.225
EU - Europa 5.048
AS - Asia 4.627
SA - Sud America 998
Continente sconosciuto - Info sul continente non disponibili 205
AF - Africa 148
OC - Oceania 6
Totale 18.257
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Nazione #
US - Stati Uniti d'America 6.876
SG - Singapore 2.180
DE - Germania 1.436
CN - Cina 1.010
IT - Italia 849
BR - Brasile 790
NL - Olanda 753
SE - Svezia 527
FR - Francia 385
VN - Vietnam 368
GB - Regno Unito 222
IE - Irlanda 199
IN - India 174
CA - Canada 162
ID - Indonesia 144
JP - Giappone 144
FI - Finlandia 129
RU - Federazione Russa 128
BD - Bangladesh 117
HK - Hong Kong 110
UA - Ucraina 108
PL - Polonia 68
KR - Corea 67
AR - Argentina 64
TR - Turchia 59
MX - Messico 58
IQ - Iraq 44
ES - Italia 42
CO - Colombia 38
ZA - Sudafrica 38
EC - Ecuador 34
CH - Svizzera 28
PK - Pakistan 27
CR - Costa Rica 25
BE - Belgio 24
IL - Israele 23
LT - Lituania 23
VE - Venezuela 23
JM - Giamaica 22
AT - Austria 21
SA - Arabia Saudita 21
IR - Iran 20
MA - Marocco 20
UZ - Uzbekistan 19
CZ - Repubblica Ceca 18
TN - Tunisia 17
CI - Costa d'Avorio 15
EG - Egitto 15
PA - Panama 14
PE - Perù 14
SV - El Salvador 14
PY - Paraguay 13
KE - Kenya 11
AE - Emirati Arabi Uniti 10
CL - Cile 10
TH - Thailandia 10
UY - Uruguay 10
BG - Bulgaria 9
TT - Trinidad e Tobago 9
TW - Taiwan 9
DK - Danimarca 8
HN - Honduras 8
MY - Malesia 8
NG - Nigeria 8
PH - Filippine 8
SC - Seychelles 8
GP - Guadalupe 7
GT - Guatemala 7
NP - Nepal 7
AL - Albania 6
HR - Croazia 6
HU - Ungheria 6
NI - Nicaragua 6
OM - Oman 6
RO - Romania 6
SK - Slovacchia (Repubblica Slovacca) 6
JO - Giordania 5
KZ - Kazakistan 5
LB - Libano 5
NO - Norvegia 5
PR - Porto Rico 5
PT - Portogallo 5
RS - Serbia 5
A2 - ???statistics.table.value.countryCode.A2??? 4
AM - Armenia 4
AU - Australia 4
AZ - Azerbaigian 4
BY - Bielorussia 4
EE - Estonia 4
GR - Grecia 4
BA - Bosnia-Erzegovina 3
BB - Barbados 3
BS - Bahamas 3
CW - ???statistics.table.value.countryCode.CW??? 3
DZ - Algeria 3
ET - Etiopia 3
KG - Kirghizistan 3
LV - Lettonia 3
ME - Montenegro 3
SY - Repubblica araba siriana 3
Totale 18.021
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Città #
Singapore 1.260
Ashburn 876
San Jose 809
Amsterdam 700
Chandler 537
Los Angeles 305
Frankfurt am Main 282
New York 252
Beijing 190
Rome 189
Dublin 184
Hefei 182
Council Bluffs 153
Milan 134
Tokyo 134
Jakarta 130
Ho Chi Minh City 127
Lauterbourg 126
Dallas 123
Chicago 113
Munich 109
Hong Kong 98
São Paulo 90
Hanoi 84
San Mateo 82
Moscow 75
Santa Clara 73
Houston 72
Boston 71
Jacksonville 68
Seoul 66
Buffalo 65
Helsinki 64
Marseille 63
The Dalles 59
Wilmington 59
Tukwila 55
Brooklyn 54
Atlanta 51
Phoenix 51
Kent 49
Nanjing 49
North Bergen 48
Ann Arbor 45
London 45
Warsaw 45
Nuremberg 44
Orem 39
Princeton 39
Toronto 39
Denver 37
Montreal 35
Dearborn 34
Boardman 33
Bremen 33
Seattle 33
Paris 32
Chennai 29
Redwood City 29
Cattolica 26
San Francisco 26
Stockholm 26
Johannesburg 25
Rio de Janeiro 25
Fairfield 24
Poplar 24
Lawrence 23
Shanghai 23
Da Nang 22
Lancaster 22
Washington 22
Belo Horizonte 21
Pune 21
Columbus 20
Newark 20
Lappeenranta 19
Mumbai 19
Palermo 19
Turku 19
Woodbridge 19
Manchester 18
Mexico City 18
Philadelphia 18
Tashkent 18
Brussels 17
Düsseldorf 17
Hebei 17
Bologna 16
Izmir 16
Norwalk 16
Nürnberg 16
Redmond 16
Abidjan 15
Haiphong 15
Turin 15
Vilnius 15
Baghdad 14
San José 14
Tianjin 14
Brasília 13
Totale 9.735
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Nome #
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 1.055
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 755
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 524
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 332
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 212
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 198
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 193
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 192
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 187
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 183
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 182
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 180
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 179
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 178
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 176
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 173
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment 173
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence 172
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 170
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 170
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 168
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 163
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. 161
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 160
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 160
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 160
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 160
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 160
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 159
Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters 158
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 158
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 157
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 157
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 157
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants 156
Early treatment of type II SMA slows rate of progression of scoliosis 156
6 minute walk test in duchenne MD patients with different mutations:12 month changes 152
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy 151
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study 150
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? 150
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies 149
Congenital muscular dystrophies with cognitive impairment. A population study 147
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 147
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 146
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 146
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study 144
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 143
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review 142
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 141
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 140
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 140
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 139
Longitudinal natural history in young boys with Duchenne muscular dystrophy 137
The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia 136
Histological effects of givinostat in boys with Duchenne muscular dystrophy 135
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 135
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? 134
The empowerment of translational research: lessons from laminopathies 134
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. 133
Clinical Variability in Spinal Muscular Atrophy Type III. 132
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 131
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 130
Genetic modifiers of upper limb function in Duchenne muscular dystrophy 128
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 126
Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report 126
An observational study of functional abilities in infants, children, and adults with type 1 SMA 125
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 124
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 124
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 124
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". 123
Development of an academic disease registry for spinal muscular atrophy 123
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 122
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 120
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) 118
MRI in sarcoglycanopathies: a large international cohort study 113
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study 113
Long term follow-up of scoliosis progression in type II SMA patients 112
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases 111
Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells 110
An observational study of functional abilities in infants, children, and adults with type 1 SMA 110
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 109
The genetic basis of undiagnosed muscular dystrophies and myopathies 108
Congenital myopathies: Clinical phenotypes and new diagnostic tools 105
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 104
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 104
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 104
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 103
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 102
MRI in sarcoglycanopathies: A large international cohort study 102
'Behr syndrome' with OPA1 compound heterozygote mutations 102
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy 98
Old measures and new scores in spinal muscular atrophy patients 97
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements 94
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 93
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 91
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 91
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 90
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 89
Fatal infantile liver failure associated with mitochondrial DNA depletion 85
Erratum: Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes (PLoS ONE (2015) 10:12 (e0144079)) 84
Totale 15.905
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Categoria #
all - tutte 76.127
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 76.127
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022496 0 0 0 0 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
2025/20268.511 903 242 503 904 1.330 1.892 1.145 302 418 403 272 197
2026/20272.279 333 431 397 933 185 0 0 0 0 0 0 0
Totale 18.257