IRIS PubliCatt

Pane, Marika
 Distribuzione geografica
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Continente #
EU - Europa 4.003
NA - Nord America 3.929
AS - Asia 675
AF - Africa 35
SA - Sud America 22
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 8.671
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Nazione #
US - Stati Uniti d'America 3.894
DE - Germania 1.235
IT - Italia 844
SE - Svezia 740
CN - Cina 391
IE - Irlanda 345
FR - Francia 194
UA - Ucraina 189
GB - Regno Unito 156
IN - India 95
FI - Finlandia 83
HK - Hong Kong 37
IR - Iran 34
BE - Belgio 31
RU - Federazione Russa 30
TR - Turchia 30
NL - Olanda 25
CI - Costa d'Avorio 22
JP - Giappone 22
SG - Singapore 22
CH - Svizzera 18
CA - Canada 17
PL - Polonia 14
CZ - Repubblica Ceca 13
ES - Italia 13
MK - Macedonia 12
PA - Panama 12
RO - Romania 12
BR - Brasile 11
RS - Serbia 11
KR - Corea 10
EG - Egitto 9
IL - Israele 7
AR - Argentina 6
AT - Austria 5
MX - Messico 5
PT - Portogallo 5
DK - Danimarca 4
HR - Croazia 4
HU - Ungheria 4
PH - Filippine 4
SK - Slovacchia (Repubblica Slovacca) 4
TW - Taiwan 4
A2 - ???statistics.table.value.countryCode.A2??? 3
CL - Cile 3
TH - Thailandia 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
BD - Bangladesh 2
BG - Bulgaria 2
BT - Bhutan 2
EE - Estonia 2
GR - Grecia 2
MA - Marocco 2
SA - Arabia Saudita 2
ZA - Sudafrica 2
AL - Albania 1
AM - Armenia 1
CO - Colombia 1
GL - Groenlandia 1
ID - Indonesia 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LT - Lituania 1
LV - Lettonia 1
ME - Montenegro 1
MT - Malta 1
MY - Malesia 1
NO - Norvegia 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PY - Paraguay 1
QA - Qatar 1
VN - Vietnam 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 8.671
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Città #
Chandler 981
Ashburn 439
Dublin 311
New York 248
Rome 157
San Mateo 148
Milan 135
Jacksonville 115
Marseille 104
Nanjing 95
Nürnberg 90
Wilmington 90
Boston 88
Princeton 77
Dearborn 75
Ann Arbor 70
Woodbridge 63
Houston 57
Beijing 47
Bremen 47
Seattle 45
Fairfield 43
Nanchang 40
Munich 36
Helsinki 34
Los Angeles 34
Redwood City 32
Lawrence 31
Hebei 27
Hong Kong 27
Lancaster 26
Brussels 25
Pune 25
Palermo 24
Augusta 23
Abidjan 22
Cattolica 22
Shanghai 22
Chicago 21
Detroit 21
Kish 21
Norwalk 21
Boardman 20
Izmir 20
Jiaxing 19
Jinan 18
Leawood 18
Redmond 17
Changsha 16
Shenyang 16
University Park 16
Washington 16
London 15
Tianjin 14
Andover 13
Inverigo 13
Busto Arsizio 12
Fremont 12
Cambridge 11
Florence 11
Ningbo 11
Brno 10
Kunming 10
Menlo Park 10
Mountain View 10
Skopje 10
Toronto 10
Turin 10
Bologna 9
Guangzhou 9
Hangzhou 9
Zhengzhou 9
Bari 8
Madrid 8
Monza 8
Naaldwijk 8
Seoul 8
Edinburgh 7
Lappeenranta 7
San Francisco 7
São Paulo 7
Taizhou 7
Tokyo 7
Cairo 6
Cinisello Balsamo 6
Genoa 6
Krakow 6
Niš 6
Nuremberg 6
San Diego 6
Stockholm 6
Amsterdam 5
Paris 5
Singapore 5
Wandsworth 5
Zurich 5
Ancona 4
Atlanta 4
Bern 4
Bitonto 4
Totale 4.624
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Nome #
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy 250
Cortical visual function in preterm infants in the first year. 203
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module 198
Neurological examination of preterm infants a term equivalent age 183
Neurological examination at 6 to 9 months in infants with cystic periventricular leukomalacia 159
Crossed cerebellar atrophy of prenatal onset 155
Prognostic value of EEG performed at term age in preterm infants. 147
-Thalamic atrophy in infants with PVL and cerebral visual impairment 135
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? 119
Visual development in prenatal post-haemorragic ventricular dilatation 117
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. 116
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. 114
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 114
Muscle MRI in Becker muscular dystrophy 110
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients 100
Performance of Upper Limb module for Duchenne muscular dystrophy 98
Muscle MRI in Becker muscular dystrophy 96
Muscle MRI: Out of the tunnel. 94
Congenital muscular dystrophies with cognitive impairment. A population study 94
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 93
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine 92
Revised upper limb module for spinal muscular atrophy: Development of a new module 92
A current approach to heart failure in Duchenne muscular dystrophy 92
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study 91
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy 90
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 90
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study 88
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy 85
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy 83
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 81
MRI: Out of the tunnel. 79
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 77
Predominant distal muscle involvement in spinal muscular atrophy 76
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 74
Developmental milestones in type I spinal muscular atrophy 72
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. 71
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study 70
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial 66
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol 65
Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era 65
Developmental milestones in type I spinal muscular atrophy 64
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 64
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 62
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". 62
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 62
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 62
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey 62
Histological effects of givinostat in boys with Duchenne muscular dystrophy 61
Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy? 61
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study 61
6 minute walk test in duchenne MD patients with different mutations:12 month changes 60
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 60
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 60
Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy. 59
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 58
An observational study of functional abilities in infants, children, and adults with type 1 SMA. 58
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 58
SEPN1-related myopathies: clinical course in a large cohort of patients 57
Longitudinal natural history in young boys with Duchenne muscular dystrophy 56
6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction 55
Longitudinal assessments in discordant twins with SMA 55
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? 54
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients 54
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? 52
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. 52
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 52
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure 52
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen 52
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 52
Assessing floppy infants: a new module 52
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 50
Pediatric Motor Inflammatory Neuropathy: The Role of Antiphospholipid Antibodies. 49
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 49
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 49
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations 48
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 47
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy 47
Nusinersen in type 0 spinal muscular atrophy: should we treat? 47
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy 47
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 47
Long-term progression in type II spinal muscular atrophy: A retrospective observational study 46
Clinical Variability in Spinal Muscular Atrophy Type III. 46
Early Gross Motor Milestones in Duchenne Muscular Dystrophy 46
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls 45
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase 45
Development of an academic disease registry for spinal muscular atrophy 45
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy 45
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 45
Duchenne muscular dystrophy: Preliminary experience with sacubitril-valsartan in patients with asymptomatic left ventricular dysfunction 44
A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy 44
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 43
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 43
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 43
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 42
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy 42
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. 41
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls 40
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 39
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild, calf-predominant myopathy. 39
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. 38
Totale 7.364
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Categoria #
all - tutte 40.710
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 40.710
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019147 0 0 0 0 0 0 0 0 0 0 57 90
2019/2020799 185 36 38 31 53 73 103 24 47 60 111 38
2020/2021491 44 42 15 37 44 43 70 12 61 30 88 5
2021/20221.130 78 36 21 110 80 38 23 191 68 66 207 212
2022/20233.043 301 379 199 454 192 388 217 267 378 48 141 79
2023/20241.978 109 455 98 175 101 401 349 102 52 129 7 0
Totale 8.914