IRIS
SFRAMELI, Maria
 Distribuzione geografica
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Continente #
EU - Europa 4.368
NA - Nord America 3.652
AS - Asia 2.176
SA - Sud America 780
Continente sconosciuto - Info sul continente non disponibili 200
AF - Africa 62
OC - Oceania 2
Totale 11.240
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Nazione #
US - Stati Uniti d'America 3.547
RU - Federazione Russa 2.320
SG - Singapore 831
CN - Cina 676
BR - Brasile 674
IE - Irlanda 521
PL - Polonia 304
IT - Italia 303
SE - Svezia 301
HK - Hong Kong 217
DE - Germania 154
FR - Francia 151
VN - Vietnam 139
GB - Regno Unito 103
FI - Finlandia 92
IN - India 87
MX - Messico 44
AR - Argentina 35
BD - Bangladesh 35
CA - Canada 34
TR - Turchia 28
NL - Olanda 22
ZA - Sudafrica 20
IQ - Iraq 19
AT - Austria 17
BE - Belgio 16
EC - Ecuador 16
VE - Venezuela 16
ID - Indonesia 15
JP - Giappone 15
UA - Ucraina 15
UZ - Uzbekistan 15
PK - Pakistan 14
MA - Marocco 13
CO - Colombia 12
ES - Italia 9
JM - Giamaica 9
JO - Giordania 9
PE - Perù 9
AE - Emirati Arabi Uniti 8
CZ - Repubblica Ceca 8
KE - Kenya 8
NP - Nepal 8
SA - Arabia Saudita 8
CI - Costa d'Avorio 7
EU - Europa 7
LT - Lituania 7
PH - Filippine 7
MY - Malesia 6
NI - Nicaragua 6
CR - Costa Rica 5
OM - Oman 5
PY - Paraguay 5
TN - Tunisia 5
AL - Albania 4
BO - Bolivia 4
CL - Cile 4
IL - Israele 4
KZ - Kazakistan 4
UY - Uruguay 4
AZ - Azerbaigian 3
BH - Bahrain 3
EG - Egitto 3
HU - Ungheria 3
KG - Kirghizistan 3
PA - Panama 3
PT - Portogallo 3
RS - Serbia 3
AU - Australia 2
BA - Bosnia-Erzegovina 2
BG - Bulgaria 2
CY - Cipro 2
DZ - Algeria 2
GE - Georgia 2
HR - Croazia 2
KR - Corea 2
SK - Slovacchia (Repubblica Slovacca) 2
TJ - Tagikistan 2
TT - Trinidad e Tobago 2
BW - Botswana 1
CH - Svizzera 1
EE - Estonia 1
ET - Etiopia 1
GT - Guatemala 1
GY - Guiana 1
HN - Honduras 1
KH - Cambogia 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LK - Sri Lanka 1
NO - Norvegia 1
PS - Palestinian Territory 1
RO - Romania 1
SC - Seychelles 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
TW - Taiwan 1
UG - Uganda 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 11.048
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Città #
Moscow 634
Ashburn 605
Dublin 520
Singapore 454
Chandler 416
Dallas 296
Warsaw 296
Beijing 274
Hong Kong 217
San Jose 210
Nyköping 195
Council Bluffs 141
The Dalles 121
Princeton 103
Los Angeles 78
Lauterbourg 75
Ann Arbor 73
Jacksonville 73
Medford 72
Munich 68
Messina 59
Cambridge 56
Des Moines 46
Ho Chi Minh City 44
São Paulo 43
Pune 42
Bremen 37
Lancaster 35
Tianjin 35
Boardman 34
Buffalo 34
Turku 34
New York 32
Redondo Beach 31
Dearborn 30
Houston 27
Rome 27
Hanoi 25
Shenyang 25
San Mateo 24
Frankfurt am Main 22
Rio de Janeiro 22
Belo Horizonte 21
Jinan 21
Santa Clara 21
Atlanta 20
Wilmington 20
Orem 19
Nanjing 17
Brussels 16
Guangzhou 16
Brasília 15
Dong Ket 15
Hebei 15
Porto Alegre 15
Tashkent 15
Tokyo 15
Chennai 14
Shanghai 14
Phoenix 13
Poplar 13
Curitiba 12
Mexico City 12
Ningbo 12
Hangzhou 11
Johannesburg 11
Seattle 11
Amsterdam 10
Baghdad 10
Campinas 10
Chicago 10
Montreal 10
Amman 9
Ankara 9
Guadalupe 9
Haikou 9
Jakarta 9
Stockholm 9
Taizhou 9
Toronto 9
Vienna 9
Brooklyn 8
Denver 8
Falls Church 8
Nuremberg 8
Zhengzhou 8
Abidjan 7
Cagliari 7
Helsinki 7
Manchester 7
Nairobi 7
Palo Del Colle 7
San Francisco 7
São Bernardo do Campo 7
Boston 6
Catania 6
Changsha 6
Charlotte 6
Goiânia 6
Guarulhos 6
Totale 6.332
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Nome #
Clinical and molecular characterization of patients affected by congenital muscular dystrophies using next generation sequencing strategies 279
Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions 247
Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs 241
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” 229
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 201
Which are the factors influencing NIV adaptation and tolerance in ALS patients? 201
Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein in Mdx mice 197
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 195
Nusinersen versus sham control in later-onset spinal muscular atrophy 193
Effect of exercise on telomere length and telomere proteins expression in mdx mice 192
Autonomic nervous system involvement in spinal muscular atrophy. 191
An observational study of functional abilities in infants, children, and adults with type 1 SMA 184
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 182
Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center 180
Pilot study of flavocoxid in ambulant DMD patients. 174
Pilot study of serial casting in muscular dystrophy patients. 172
Pilot study of serial casting of ankles in muscular dystrophy patients. 169
Neuropsychological patter in centronuclear myopathy due to DNM2 gene mutations. 168
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen 168
Modulation of neural nitric oxide synthase by the isoflavone genistein promotes muscle regeneration in mdx mice 167
Predictors of adaptation to non-invasive ventilation in amyotrophic lateral sclerosis 162
Psycological status and emotional burden in amyotrophic lateral sclerosis caregivers: the role of metacognitive processes. 160
Emotional burden and coping strategies in amyotrophic lateral sclerosis caregivers: The role of metacognitions 159
Predictors of adaptation to non-invasive ventilation in neuromuscular disorders. 158
Outcome measures in Duchenne muscular dystrophy: validation of the Pediatric Quality of Life InventoryTM Neuromuscular Module in the Italian population and correlation with other functional assessments. 158
Psychosocial impact of sport activity in neuromuscular disorders 156
The 24-month PUL changes and steroids correlation. 155
Activation of NF-kappaB pathway in Duchenne muscular dystrophy: relation to age 154
Pilot study of flavocoxid in ambulant DMD patients. 153
Severe rhabdomyolysis in a patient with “Heat Stroke” 152
Pilot study of flavocoxid in ambulant DMD patients. 152
The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis 151
Burden, professional support, and social network in families of children and young adults with muscular dystrophies 150
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy 149
Clinical variability in spinal muscular atrophy type III 149
Burden, social network and professional support in the families of patients with muscular dystrophies: results from the GUP10002 study. 148
First report of a family with a DMD out of frame exon 2 deletion associated with asymptomatic phenotypes. 147
Teriparatide (rhPTH 1-34) in Duchenne Muscular Dystrophy related osteoporosis: a case report. 145
Impaired rotational mechanics and strain revealing subclinical left ventricular dysfunction in children with Duchenne muscular dystrophy: a skeckle tracking study. 144
Development of an academic disease registry for spinal muscular atrophy 144
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 141
Clinical and genetic spectrum in a large cohort of patients with a genetic diagnosis of Congenital Muscular Dystrophies in the UK and differences with the Italian population 140
Teriparatide (rhPTH 1-34) in Duchenne Muscular Dystrophy related osteoporosis: a case report 140
First report of a family with a DMD out of frame exon 2 deletion associated with asymptomatic phenotypes. 138
Selective short-term verbal memory involvement in two siblings carrying centronuclear myopathy due to DNM2 gene mutations 137
Impaired rotational mechanics and strain revealing subclinical left ventricular dysfunction in children with neuromuscolar disorders: a speckle tracking study 132
study of flavocoxid in ambulant DMD patients. 131
Clinical and genetic spectrum in a large cohort of patients with a genetic diagnosis of Congenital Muscular Dystrophies: Analysis of the UK diagnostic service 2001-2013. 127
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 124
Pilot study of flavocoxid in ambulant DMD patients. 124
Telomere shortening and telomere associated proteins in exercised wild type and mdx mice. 123
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys 123
Congenital myastenic syndromes due a novel GFPT1 mutation: a new Italian case 118
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy 118
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 117
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study 116
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 112
Pilot study of flavocoxid in ambulant DMD patients. 104
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study 103
The first report of a patient carrying an out-of-frame exon2 deletion in the dystrophin gene and showing a very unusual phenotype. 102
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 98
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 92
The respiratory symptom check-list for patients with myotonic dystrophies: preliminary results. 90
Old measures and new scores in spinal muscular atrophy patients 87
Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy. 87
Stato dell'arte sulle terapie della Distrofia muscolare di Duchenne. 87
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function 86
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 84
The first report of a patient carrying an out-of-frame exon2 deletion in the dystrophin gene and showing a very unusual phenotype. 82
“I have got something positive out of this situation”: Psychological benefits of caregiving in relatives of young people with muscular dystrophy 80
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 77
The families of children with muscular dystrophies: burden, social network and professional support. 76
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. 72
Sleep disorders in spinal muscular atrophy 71
The genetic spectrum of a large cohort of putative CMD. 69
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 68
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy 67
Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire 63
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure 62
Outcome measures in Duchenne muscular dystrophy: validation of the Pediatric Quality of Life Inventory TM neuromuscular Module in the Italian population and correlation with other functional assessments. 60
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 59
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 28
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function 27
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Totale 11.240
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Categoria #
all - tutte 38.589
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 38.589
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022445 0 0 5 34 24 4 44 18 8 54 39 215
2022/20231.432 98 146 69 105 129 122 10 70 638 9 29 7
2023/2024367 17 61 18 52 22 96 31 15 0 6 5 44
2024/20251.776 39 35 38 109 57 51 65 369 400 130 182 301
2025/20265.304 270 328 353 371 452 1.076 635 689 707 242 88 93
2026/2027508 119 374 15 0 0 0 0 0 0 0 0 0
Totale 11.240