IRIS
SFRAMELI, MARIA
 Distribuzione geografica
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Continente #
EU - Europa 1.707
NA - Nord America 1.608
AS - Asia 668
Continente sconosciuto - Info sul continente non disponibili 8
SA - Sud America 1
Totale 3.992
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Nazione #
US - Stati Uniti d'America 1.591
IE - Irlanda 523
CN - Cina 379
SE - Svezia 298
PL - Polonia 278
IT - Italia 220
SG - Singapore 211
DE - Germania 190
GB - Regno Unito 65
FI - Finlandia 59
IN - India 47
FR - Francia 28
BE - Belgio 15
VN - Vietnam 15
MX - Messico 14
EU - Europa 7
ID - Indonesia 7
CZ - Repubblica Ceca 6
NL - Olanda 6
LT - Lituania 4
CA - Canada 3
UA - Ucraina 3
BA - Bosnia-Erzegovina 2
ES - Italia 2
HK - Hong Kong 2
PH - Filippine 2
PT - Portogallo 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
A1 - Anonimo 1
AT - Austria 1
CH - Svizzera 1
CL - Cile 1
HR - Croazia 1
JP - Giappone 1
KR - Corea 1
KZ - Kazakistan 1
NO - Norvegia 1
Totale 3.992
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Città #
Dublin 522
Chandler 425
Warsaw 276
Nyköping 198
Beijing 169
Singapore 169
Ashburn 130
Princeton 105
Ann Arbor 75
Medford 73
Jacksonville 71
Cambridge 57
Des Moines 46
Messina 44
Pune 43
Bremen 38
Lancaster 35
Boardman 34
Dearborn 30
Shenyang 25
San Mateo 24
Jinan 21
Rome 21
Houston 20
Wilmington 20
Los Angeles 19
Tianjin 19
Munich 18
Nanjing 17
Nürnberg 17
Brussels 15
Dong Ket 15
Hebei 15
Ningbo 13
Hangzhou 10
New York 10
Zhengzhou 10
Guadalupe 9
Haikou 9
Taizhou 9
Falls Church 8
Helsinki 7
Jakarta 7
Palo Del Colle 7
Cagliari 6
Jiaxing 6
Brno 5
Changsha 5
Ciudad Benito Juárez 5
Guangzhou 5
Seattle 5
Woodbridge 5
Fort Worth 4
Fuzhou 4
Norwalk 4
Taiyuan 4
Amsterdam 3
Bagheria 3
Caserta 3
Fairfield 3
Hemel Hempstead 3
Nanchang 3
Napoli 3
Northampton 3
Nynäshamn 3
Padova 3
Riposto 3
Segrate 3
Shanghai 3
Toronto 3
Bari 2
Batangas 2
Borgosatollo 2
Cazin 2
Clearwater 2
Frosinone 2
Galluccio 2
Glasgow 2
Hanover 2
Hong Kong 2
Kemerovo 2
Latina 2
London 2
Lublin 2
Palermo 2
Patna 2
Porto 2
San Giuliano Milanese 2
San Vito Di Leguzzano 2
Augusta 1
Buffalo 1
Campagna 1
Carrara 1
Castignano 1
Catania 1
Cermes 1
Chattanooga 1
Cork 1
Dalian 1
Delhi 1
Totale 3.054
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Nome #
Severe rhabdomyolysis in a patient with “Heat Stroke” 194
Clinical and molecular characterization of patients affected by congenital muscular dystrophies using next generation sequencing strategies 172
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 94
Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein in Mdx mice 84
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 81
An observational study of functional abilities in infants, children, and adults with type 1 SMA 77
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 73
Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions 68
Effect of exercise on telomere length and telomere proteins expression in mdx mice 68
Pilot study of flavocoxid in ambulant DMD patients. 67
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” 66
Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center 66
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study 65
Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs 65
Pilot study of serial casting in muscular dystrophy patients. 64
The 24-month PUL changes and steroids correlation. 64
Pilot study of flavocoxid in ambulant DMD patients. 62
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 62
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. 62
Nusinersen versus sham control in later-onset spinal muscular atrophy 62
Pilot study of serial casting of ankles in muscular dystrophy patients. 61
Predictors of adaptation to non-invasive ventilation in amyotrophic lateral sclerosis 59
Predictors of adaptation to non-invasive ventilation in neuromuscular disorders. 58
Autonomic nervous system involvement in spinal muscular atrophy. 58
Psycological status and emotional burden in amyotrophic lateral sclerosis caregivers: the role of metacognitive processes. 58
Modulation of neural nitric oxide synthase by the isoflavone genistein promotes muscle regeneration in mdx mice 58
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 57
First report of a family with a DMD out of frame exon 2 deletion associated with asymptomatic phenotypes. 57
Teriparatide (rhPTH 1-34) in Duchenne Muscular Dystrophy related osteoporosis: a case report 57
Which are the factors influencing NIV adaptation and tolerance in ALS patients? 57
Severe rhabdomyolysis in a patient with “Heat Stroke” 54
First report of a family with a DMD out of frame exon 2 deletion associated with asymptomatic phenotypes. 54
Telomere shortening and telomere associated proteins in exercised wild type and mdx mice. 53
Emotional burden and coping strategies in amyotrophic lateral sclerosis caregivers: The role of metacognitions 53
Development of an academic disease registry for spinal muscular atrophy 52
Neuropsychological patter in centronuclear myopathy due to DNM2 gene mutations. 52
Pilot study of flavocoxid in ambulant DMD patients. 52
Old measures and new scores in spinal muscular atrophy patients 49
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy 49
Impaired rotational mechanics and strain revealing subclinical left ventricular dysfunction in children with neuromuscolar disorders: a speckle tracking study 47
Selective short-term verbal memory involvement in two siblings carrying centronuclear myopathy due to DNM2 gene mutations 46
Impaired rotational mechanics and strain revealing subclinical left ventricular dysfunction in children with Duchenne muscular dystrophy: a skeckle tracking study. 46
Burden, professional support, and social network in families of children and young adults with muscular dystrophies 46
Psychosocial impact of sport activity in neuromuscular disorders 46
Congenital myastenic syndromes due a novel GFPT1 mutation: a new Italian case 45
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 45
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study 45
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. 44
Burden, social network and professional support in the families of patients with muscular dystrophies: results from the GUP10002 study. 44
The respiratory symptom check-list for patients with myotonic dystrophies: preliminary results. 44
The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis 44
study of flavocoxid in ambulant DMD patients. 43
Teriparatide (rhPTH 1-34) in Duchenne Muscular Dystrophy related osteoporosis: a case report. 43
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen 41
Stato dell'arte sulle terapie della Distrofia muscolare di Duchenne. 38
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 37
The first report of a patient carrying an out-of-frame exon2 deletion in the dystrophin gene and showing a very unusual phenotype. 36
“I have got something positive out of this situation”: Psychological benefits of caregiving in relatives of young people with muscular dystrophy 35
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. 33
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys 33
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function 33
Clinical Variability in Spinal Muscular Atrophy Type III 33
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy 32
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 32
Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy. 32
The first report of a patient carrying an out-of-frame exon2 deletion in the dystrophin gene and showing a very unusual phenotype. 31
Activation of NF-kappaB pathway in Duchenne muscular dystrophy: relation to age 29
Pilot study of flavocoxid in ambulant DMD patients. 28
null 27
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. 23
Sleep disorders in spinal muscular atrophy 22
null 22
Pilot study of flavocoxid in ambulant DMD patients. 22
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 21
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 21
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Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 20
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Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire 18
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 17
The genetic spectrum of a large cohort of putative CMD. 17
The families of children with muscular dystrophies: burden, social network and professional support. 16
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 16
null 15
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy 15
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure 13
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 9
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 5
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function 4
Totale 4.176
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Categoria #
all - tutte 19.179
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 19.179
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020414 0 0 0 0 0 0 42 44 30 172 81 45
2020/2021481 29 30 112 25 126 18 39 18 18 36 9 21
2021/2022499 3 43 5 34 24 4 45 19 8 57 39 218
2022/20231.458 99 149 69 107 131 128 10 71 649 9 29 7
2023/2024377 17 63 18 53 25 98 33 15 0 6 5 44
2024/2025332 39 35 38 111 57 51 1 0 0 0 0 0
Totale 4.176