IRIS UniCatt

Bertini, Enrico Silvio
 Distribuzione geografica
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Continente #
NA - Nord America 5.374
EU - Europa 4.880
AS - Asia 4.576
SA - Sud America 948
AF - Africa 140
Continente sconosciuto - Info sul continente non disponibili 6
OC - Oceania 6
Totale 15.930
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Nazione #
US - Stati Uniti d'America 5.171
SG - Singapore 2.177
DE - Germania 1.433
CN - Cina 1.008
BR - Brasile 770
IT - Italia 753
NL - Olanda 751
SE - Svezia 526
FR - Francia 379
VN - Vietnam 364
GB - Regno Unito 204
IE - Irlanda 198
IN - India 174
JP - Giappone 142
ID - Indonesia 139
FI - Finlandia 129
RU - Federazione Russa 111
BD - Bangladesh 109
HK - Hong Kong 109
UA - Ucraina 107
CA - Canada 100
KR - Corea 67
PL - Polonia 67
AR - Argentina 60
TR - Turchia 56
MX - Messico 53
IQ - Iraq 44
ZA - Sudafrica 38
ES - Italia 36
CH - Svizzera 28
EC - Ecuador 26
PK - Pakistan 26
CO - Colombia 25
BE - Belgio 23
AT - Austria 21
IR - Iran 20
MA - Marocco 20
UZ - Uzbekistan 19
VE - Venezuela 19
CZ - Repubblica Ceca 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
CR - Costa Rica 11
KE - Kenya 11
AE - Emirati Arabi Uniti 10
CL - Cile 10
LT - Lituania 10
UY - Uruguay 10
BG - Bulgaria 9
JM - Giamaica 9
TW - Taiwan 9
DK - Danimarca 8
NG - Nigeria 8
PH - Filippine 7
AL - Albania 6
HR - Croazia 6
HU - Ungheria 6
NP - Nepal 6
OM - Oman 6
RO - Romania 6
TH - Thailandia 6
JO - Giordania 5
KZ - Kazakistan 5
LB - Libano 5
MY - Malesia 5
NO - Norvegia 5
PT - Portogallo 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
TT - Trinidad e Tobago 4
BA - Bosnia-Erzegovina 3
DZ - Algeria 3
EE - Estonia 3
ET - Etiopia 3
GT - Guatemala 3
KG - Kirghizistan 3
LV - Lettonia 3
ME - Montenegro 3
SY - Repubblica araba siriana 3
BH - Bahrain 2
BN - Brunei Darussalam 2
GE - Georgia 2
HN - Honduras 2
LK - Sri Lanka 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
PS - Palestinian Territory 2
SC - Seychelles 2
Totale 15.905
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Città #
Singapore 1.258
Amsterdam 700
Ashburn 649
San Jose 637
Chandler 536
Frankfurt am Main 281
New York 233
Beijing 189
Dublin 184
Hefei 182
Rome 177
Los Angeles 153
Tokyo 132
Jakarta 130
Lauterbourg 126
Ho Chi Minh City 125
Milan 125
Munich 109
Chicago 107
Dallas 99
Hong Kong 97
São Paulo 90
Hanoi 83
San Mateo 82
Moscow 75
Houston 67
Boston 66
Seoul 66
Helsinki 64
Marseille 63
Jacksonville 60
The Dalles 59
Wilmington 56
Buffalo 55
Tukwila 55
Council Bluffs 50
Kent 49
Nanjing 49
Santa Clara 49
Ann Arbor 45
Nuremberg 44
Warsaw 44
London 41
Brooklyn 40
Princeton 39
Atlanta 38
Orem 35
Dearborn 34
Bremen 33
Boardman 32
Paris 31
Chennai 29
Redwood City 29
Toronto 29
Denver 28
Cattolica 26
Johannesburg 25
Montreal 25
Seattle 25
Stockholm 25
Fairfield 24
Poplar 24
Lawrence 23
Phoenix 23
Rio de Janeiro 23
Shanghai 23
Belo Horizonte 21
Da Nang 21
Lancaster 21
Pune 21
Columbus 19
Lappeenranta 19
Mumbai 19
San Francisco 19
Turku 19
Woodbridge 19
Tashkent 18
Washington 18
Brussels 17
Düsseldorf 17
Hebei 17
Mexico City 17
Izmir 16
Manchester 16
Norwalk 16
Nürnberg 16
Redmond 16
Abidjan 15
Haiphong 15
Baghdad 14
Palermo 14
Tianjin 14
Turin 14
Brasília 13
Guangzhou 13
Inverigo 13
Bexley 12
Bologna 12
Brno 12
Changsha 12
Totale 8.759
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Nome #
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 962
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 682
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 503
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 180
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 177
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 175
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 170
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 169
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 168
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 168
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 165
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 165
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 165
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 163
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence 161
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 158
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 157
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 155
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment 153
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 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 151
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 149
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 149
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. 147
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 147
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 147
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 146
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 143
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants 142
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 141
Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters 140
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy 140
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 140
Congenital muscular dystrophies with cognitive impairment. A population study 139
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 138
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 137
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 136
Early treatment of type II SMA slows rate of progression of scoliosis 135
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 135
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 135
6 minute walk test in duchenne MD patients with different mutations:12 month changes 135
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 134
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study 134
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 134
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 132
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 132
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? 131
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 130
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 127
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies 127
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study 126
The empowerment of translational research: lessons from laminopathies 125
Genetic modifiers of upper limb function in Duchenne muscular dystrophy 122
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 119
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. 119
Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report 117
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 117
Longitudinal natural history in young boys with Duchenne muscular dystrophy 117
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 117
Histological effects of givinostat in boys with Duchenne muscular dystrophy 116
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review 116
Clinical Variability in Spinal Muscular Atrophy Type III. 115
An observational study of functional abilities in infants, children, and adults with type 1 SMA 112
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 112
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 111
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 111
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
The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia 108
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 108
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 108
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? 107
Development of an academic disease registry for spinal muscular atrophy 107
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene 106
MRI in sarcoglycanopathies: a large international cohort study 104
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases 102
Long term follow-up of scoliosis progression in type II SMA patients 97
An observational study of functional abilities in infants, children, and adults with type 1 SMA 97
The genetic basis of undiagnosed muscular dystrophies and myopathies 97
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 97
Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells 96
'Behr syndrome' with OPA1 compound heterozygote mutations 96
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 95
MRI in sarcoglycanopathies: A large international cohort study 94
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 93
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) 93
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 93
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study 92
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 91
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 91
Old measures and new scores in spinal muscular atrophy patients 90
Congenital myopathies: Clinical phenotypes and new diagnostic tools 87
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 84
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy 84
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 84
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 80
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 80
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) 78
Erratum: Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes (PLoS ONE (2015) 10:12 (e0144079)) 77
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 77
Severe abnormalities of the pons in two infants with Goldenhar syndrome 75
Totale 14.152
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Categoria #
all - tutte 68.272
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 68.272
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20268.511 903 242 503 904 1.330 1.892 1.145 302 418 403 272 197
2026/2027147 147 0 0 0 0 0 0 0 0 0 0 0
Totale 16.125