IRIS PubliCatt

Bertini, Enrico Silvio
 Distribuzione geografica
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Continente #
NA - Nord America 2.231
EU - Europa 1.931
AS - Asia 603
AF - Africa 18
SA - Sud America 17
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 4.807
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Nazione #
US - Stati Uniti d'America 2.204
SE - Svezia 432
IT - Italia 406
DE - Germania 341
CN - Cina 255
SG - Singapore 189
IE - Irlanda 184
FR - Francia 126
RU - Federazione Russa 93
UA - Ucraina 93
GB - Regno Unito 80
FI - Finlandia 56
IN - India 51
TR - Turchia 28
HK - Hong Kong 22
BE - Belgio 20
CH - Svizzera 20
IR - Iran 19
NL - Olanda 18
CA - Canada 14
CZ - Repubblica Ceca 13
CI - Costa d'Avorio 12
JP - Giappone 11
PA - Panama 11
KR - Corea 10
PL - Polonia 8
BR - Brasile 7
ES - Italia 7
IL - Israele 7
AT - Austria 5
A2 - ???statistics.table.value.countryCode.A2??? 4
DK - Danimarca 4
HU - Ungheria 4
PE - Perù 4
RO - Romania 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
RS - Serbia 2
SA - Arabia Saudita 2
SC - Seychelles 2
TH - Thailandia 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
TW - Taiwan 1
VN - Vietnam 1
ZA - Sudafrica 1
Totale 4.807
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Città #
Chandler 535
Ashburn 262
Dublin 172
New York 137
Singapore 114
Rome 92
San Mateo 82
Milan 79
Moscow 74
Marseille 61
Jacksonville 55
Wilmington 54
Chicago 52
Boston 49
Nanjing 48
Houston 47
Ann Arbor 45
Princeton 39
Dearborn 34
Munich 34
Bremen 32
Redwood City 29
Beijing 26
Cattolica 26
Helsinki 25
Fairfield 23
Lawrence 23
Lancaster 20
Woodbridge 19
Hong Kong 18
Los Angeles 18
Hebei 17
Izmir 16
Nürnberg 16
Pune 16
Redmond 16
Seattle 16
Brussels 15
Norwalk 15
Shanghai 15
London 14
Washington 14
Boardman 13
Inverigo 13
Abidjan 12
Jiaxing 12
Palermo 12
Mountain View 11
Shenyang 11
Brno 10
Jinan 10
Nanchang 10
Turin 10
Changsha 9
Menlo Park 9
Seoul 9
Andover 8
Kish 8
Leawood 8
Tianjin 8
Zurich 8
Bern 7
Busto Arsizio 7
Toronto 7
Antwerp 6
Augusta 6
Bologna 6
Cambridge 6
Detroit 6
Lappeenranta 6
Amsterdam 5
Angri 5
Edinburgh 5
Zhengzhou 5
Budapest 4
Florence 4
Frattamaggiore 4
Lima 4
Lodi 4
Madrid 4
Monza 4
Naaldwijk 4
Ningbo 4
San Diego 4
San Francisco 4
San Jose 4
Secaucus 4
São Paulo 4
Tokyo 4
University Park 4
Vienna 4
Alcamo 3
Bari 3
Bitonto 3
Cairo 3
Changchun 3
Clearwater 3
Frankfurt am Main 3
Grottaferrata 3
Guangzhou 3
Totale 2.857
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Nome #
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 118
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. 103
Congenital muscular dystrophies with cognitive impairment. A population study 98
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 97
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 91
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 91
209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands 90
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy 88
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 86
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 85
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies 84
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 83
The empowerment of translational research: lessons from laminopathies 81
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" 78
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 75
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 74
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study 72
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. 72
Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report 71
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". 67
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 67
Histological effects of givinostat in boys with Duchenne muscular dystrophy 66
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 65
6 minute walk test in duchenne MD patients with different mutations:12 month changes 64
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 63
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 63
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 63
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 62
'Behr syndrome' with OPA1 compound heterozygote mutations 62
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 60
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 60
DJ-1 modulates mitochondrial response to oxidative stress: Clues from a novel diagnosis of PARK7 59
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 58
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 57
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 57
Longitudinal natural history in young boys with Duchenne muscular dystrophy 57
MRI in sarcoglycanopathies: a large international cohort study 56
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 56
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy 55
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 55
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 54
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence 54
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. 53
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 51
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 50
The genetic basis of undiagnosed muscular dystrophies and myopathies 49
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 49
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 48
Clinical Variability in Spinal Muscular Atrophy Type III. 47
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 47
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 46
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases 46
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 45
Development of an academic disease registry for spinal muscular atrophy 45
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network 45
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. 44
Italian recommendations for diagnosis and management of congenital myasthenic syndromes 44
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 44
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 43
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 43
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 41
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review 41
MRI in sarcoglycanopathies: A large international cohort study 40
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 40
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 39
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study 38
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods 37
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 36
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 33
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 32
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment 32
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 29
Old measures and new scores in spinal muscular atrophy patients 29
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 28
An observational study of functional abilities in infants, children, and adults with type 1 SMA 25
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants 25
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 23
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 21
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1 21
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? 21
Early neurodevelopmental assessment in Duchenne muscular dystrophy 20
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 19
Fatal infantile liver failure associated with mitochondrial DNA depletion 19
Long term follow-up of scoliosis progression in type II SMA patients 18
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 18
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16â 18 November 2016, Rome, Italy 18
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies 18
An observational study of functional abilities in infants, children, and adults with type 1 SMA 17
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 16
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 16
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study 16
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands 13
Erratum: Long term natural history data in ambulant boys with duchenne muscular dystrophy: 36-month changes (PLoS ONE (2015) 10:12 (e0144079)) 13
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) 12
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy 12
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 11
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort 11
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients 11
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements 10
Totale 4.804
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Categoria #
all - tutte 28.950
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 28.950
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020213 0 0 15 9 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
2024/2025151 68 59 24 0 0 0 0 0 0 0 0 0
Totale 4.946