IRIS PubliCatt

Bertini, Enrico Silvio
 Distribuzione geografica
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Continente #
NA - Nord America 2.292
EU - Europa 2.001
AS - Asia 934
AF - Africa 18
SA - Sud America 18
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 5.270
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Nazione #
US - Stati Uniti d'America 2.255
IT - Italia 439
SE - Svezia 432
SG - Singapore 367
DE - Germania 348
CN - Cina 278
IE - Irlanda 184
FR - Francia 134
ID - Indonesia 124
RU - Federazione Russa 94
UA - Ucraina 93
GB - Regno Unito 90
FI - Finlandia 56
IN - India 51
TR - Turchia 28
CA - Canada 24
HK - Hong Kong 22
BE - Belgio 21
CH - Svizzera 20
NL - Olanda 20
IR - Iran 19
CZ - Repubblica Ceca 13
CI - Costa d'Avorio 12
JP - Giappone 12
PA - Panama 11
KR - Corea 10
BR - Brasile 8
PL - Polonia 8
ES - Italia 7
IL - Israele 7
AT - Austria 5
HU - Ungheria 5
LT - Lituania 5
TW - Taiwan 5
A2 - ???statistics.table.value.countryCode.A2??? 4
DK - Danimarca 4
PE - Perù 4
RO - Romania 4
RS - Serbia 4
EG - Egitto 3
HR - Croazia 3
SK - Slovacchia (Repubblica Slovacca) 3
AR - Argentina 2
AU - Australia 2
CO - Colombia 2
EE - Estonia 2
GR - Grecia 2
MX - Messico 2
NO - Norvegia 2
SA - Arabia Saudita 2
SC - Seychelles 2
TH - Thailandia 2
VN - Vietnam 2
AL - Albania 1
AM - Armenia 1
CL - Cile 1
KZ - Kazakistan 1
LK - Sri Lanka 1
ME - Montenegro 1
MO - Macao, regione amministrativa speciale della Cina 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
PY - Paraguay 1
ZA - Sudafrica 1
Totale 5.270
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Città #
Chandler 535
Singapore 283
Ashburn 264
Dublin 172
New York 137
Jakarta 124
Rome 96
Milan 88
San Mateo 82
Moscow 74
Marseille 61
Jacksonville 55
Wilmington 54
Chicago 52
Boston 49
Nanjing 48
Houston 47
Ann Arbor 45
Munich 40
Princeton 39
Dearborn 34
Bremen 32
Redwood City 29
Beijing 26
Cattolica 26
Helsinki 25
Fairfield 23
Lawrence 23
Los Angeles 21
Lancaster 20
London 19
Woodbridge 19
Hong Kong 18
Hebei 17
Brussels 16
Izmir 16
Nürnberg 16
Pune 16
Redmond 16
Seattle 16
Shanghai 16
Norwalk 15
Washington 14
Boardman 13
Inverigo 13
Toronto 13
Abidjan 12
Jiaxing 12
Palermo 12
Jinan 11
Mountain View 11
Shenyang 11
Brno 10
Changsha 10
Nanchang 10
Turin 10
Menlo Park 9
Paris 9
Seoul 9
Andover 8
Kish 8
Leawood 8
Tianjin 8
Zurich 8
Bern 7
Busto Arsizio 7
Antwerp 6
Augusta 6
Bologna 6
Cambridge 6
Detroit 6
Lappeenranta 6
Santa Clara 6
Amsterdam 5
Angri 5
Edinburgh 5
Guangzhou 5
São Paulo 5
Taipei 5
Tokyo 5
Zhengzhou 5
Belgrade 4
Budapest 4
Florence 4
Frankfurt am Main 4
Frattamaggiore 4
Kunming 4
Lima 4
Lodi 4
Madrid 4
Monza 4
Naaldwijk 4
Ningbo 4
Ottawa 4
San Diego 4
San Francisco 4
San Jose 4
Secaucus 4
University Park 4
Vienna 4
Totale 3.205
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Nome #
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 121
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 104
Congenital muscular dystrophies with cognitive impairment. A population study 102
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 100
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 96
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 93
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 92
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy 91
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 91
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 90
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 88
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies 86
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 83
The empowerment of translational research: lessons from laminopathies 83
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 81
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 79
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study 76
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. 76
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". 74
Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report 73
Histological effects of givinostat in boys with Duchenne muscular dystrophy 72
6 minute walk test in duchenne MD patients with different mutations:12 month changes 70
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 70
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 70
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 69
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 68
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 68
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 68
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 66
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 65
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 64
'Behr syndrome' with OPA1 compound heterozygote mutations 64
MRI in sarcoglycanopathies: a large international cohort study 62
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 61
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 61
Longitudinal natural history in young boys with Duchenne muscular dystrophy 60
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 60
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 59
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 59
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 58
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 58
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 57
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence 57
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 56
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. 55
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 54
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review 54
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 53
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 52
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 51
Clinical Variability in Spinal Muscular Atrophy Type III. 51
The genetic basis of undiagnosed muscular dystrophies and myopathies 50
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 50
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases 49
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 49
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 48
Development of an academic disease registry for spinal muscular atrophy 48
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 48
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 47
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 46
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 45
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 44
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 43
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study 43
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 43
MRI in sarcoglycanopathies: A large international cohort study 41
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods 39
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 38
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 37
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment 36
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 33
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 32
Old measures and new scores in spinal muscular atrophy patients 32
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 30
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants 30
An observational study of functional abilities in infants, children, and adults with type 1 SMA 30
An observational study of functional abilities in infants, children, and adults with type 1 SMA 29
A prospective natural history study of type 1 spinal muscular atrophy 29
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1 26
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? 26
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 23
An observational study of functional abilities in infants, children, and adults with type 1 SMA 23
Long term follow-up of scoliosis progression in type II SMA patients 22
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 22
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 22
Early neurodevelopmental assessment in Duchenne muscular dystrophy 21
Fatal infantile liver failure associated with mitochondrial DNA depletion 21
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 20
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16â 18 November 2016, Rome, Italy 20
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies 20
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study 20
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 18
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy 18
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements 17
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 17
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) 17
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy 16
Erratum: Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes (PLoS ONE (2015) 10:12 (e0144079)) 15
Congenital myopathies: Clinical phenotypes and new diagnostic tools 14
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 14
Totale 5.192
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Categoria #
all - tutte 32.564
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 32.564
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020189 0 0 0 0 11 22 51 6 15 12 54 18
2020/2021270 2 23 6 33 23 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
2024/2025615 68 59 209 92 187 0 0 0 0 0 0 0
Totale 5.410