IRIS
SFRAMELI, MARIA
 Distribuzione geografica
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Continente #
EU - Europa 1.657
NA - Nord America 1.587
AS - Asia 437
Continente sconosciuto - Info sul continente non disponibili 8
SA - Sud America 1
Totale 3.690
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Nazione #
US - Stati Uniti d'America 1.586
IE - Irlanda 539
CN - Cina 364
SE - Svezia 301
PL - Polonia 276
IT - Italia 191
DE - Germania 171
GB - Regno Unito 65
FI - Finlandia 54
IN - India 48
FR - Francia 29
VN - Vietnam 15
BE - Belgio 14
EU - Europa 7
NL - Olanda 4
UA - Ucraina 3
BA - Bosnia-Erzegovina 2
ES - Italia 2
HK - Hong Kong 2
PH - Filippine 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
A1 - Anonimo 1
CA - Canada 1
CH - Svizzera 1
CL - Cile 1
CZ - Repubblica Ceca 1
HR - Croazia 1
JP - Giappone 1
KR - Corea 1
KZ - Kazakistan 1
NO - Norvegia 1
SG - Singapore 1
Totale 3.690
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Città #
Dublin 538
Chandler 436
Warsaw 276
Nyköping 201
Beijing 171
Ashburn 132
Princeton 107
Ann Arbor 75
Medford 75
Jacksonville 73
Cambridge 59
Des Moines 46
Pune 45
Messina 41
Lancaster 39
Bremen 38
Dearborn 30
Boardman 29
San Mateo 24
Shenyang 24
Jinan 22
Houston 20
Wilmington 20
Tianjin 18
Nanjing 17
Nürnberg 17
Rome 17
Dong Ket 15
Hebei 15
Brussels 14
Ningbo 13
Taizhou 11
Hangzhou 10
New York 10
Zhengzhou 10
Haikou 9
Falls Church 8
Palo Del Colle 7
Cagliari 6
Guangzhou 6
Jiaxing 6
Changsha 5
Fuzhou 5
Seattle 5
Taiyuan 5
Woodbridge 5
Fort Worth 4
Norwalk 4
Caserta 3
Fairfield 3
Los Angeles 3
Nanchang 3
Napoli 3
Northampton 3
Nynäshamn 3
Riposto 3
Segrate 3
Amsterdam 2
Bari 2
Batangas 2
Borgosatollo 2
Cazin 2
Clearwater 2
Frosinone 2
Galluccio 2
Glasgow 2
Hanover 2
Helsinki 2
Hong Kong 2
Kemerovo 2
Latina 2
London 2
Palermo 2
Paris 2
Patna 2
San Giuliano Milanese 2
San Vito Di Leguzzano 2
Shanghai 2
Augusta 1
Buffalo 1
Campagna 1
Catania 1
Cermes 1
Chattanooga 1
Cork 1
Dalian 1
Delhi 1
Enna 1
Fiano Romano 1
Lago 1
Lanzhou 1
Liverpool 1
Lucca 1
Madrid 1
Magenta 1
Melegnano 1
Milazzo 1
Mountain View 1
Naples 1
Niederrohrdorf 1
Totale 2.854
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Nome #
Severe rhabdomyolysis in a patient with “Heat Stroke” 192
Clinical and molecular characterization of patients affected by congenital muscular dystrophies using next generation sequencing strategies 164
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study 91
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 77
Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein in Mdx mice 74
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience 70
An observational study of functional abilities in infants, children, and adults with type 1 SMA 70
Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions 66
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study 63
Effect of exercise on telomere length and telomere proteins expression in mdx mice 63
Pilot study of flavocoxid in ambulant DMD patients. 62
Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs 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” 61
Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center 61
The 24-month PUL changes and steroids correlation. 60
Pilot study of serial casting in muscular dystrophy patients. 59
Pilot study of serial casting of ankles in muscular dystrophy patients. 59
Pilot study of flavocoxid in ambulant DMD patients. 58
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test 58
Nusinersen versus sham control in later-onset spinal muscular atrophy 58
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. 57
First report of a family with a DMD out of frame exon 2 deletion associated with asymptomatic phenotypes. 55
Teriparatide (rhPTH 1-34) in Duchenne Muscular Dystrophy related osteoporosis: a case report 55
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 53
Predictors of adaptation to non-invasive ventilation in amyotrophic lateral sclerosis 53
Psycological status and emotional burden in amyotrophic lateral sclerosis caregivers: the role of metacognitive processes. 53
Modulation of neural nitric oxide synthase by the isoflavone genistein promotes muscle regeneration in mdx mice 53
Severe rhabdomyolysis in a patient with “Heat Stroke” 52
Predictors of adaptation to non-invasive ventilation in neuromuscular disorders. 52
Autonomic nervous system involvement in spinal muscular atrophy. 51
First report of a family with a DMD out of frame exon 2 deletion associated with asymptomatic phenotypes. 49
Neuropsychological patter in centronuclear myopathy due to DNM2 gene mutations. 48
Telomere shortening and telomere associated proteins in exercised wild type and mdx mice. 47
Development of an academic disease registry for spinal muscular atrophy 47
Emotional burden and coping strategies in amyotrophic lateral sclerosis caregivers: The role of metacognitions 47
Which are the factors influencing NIV adaptation and tolerance in ALS patients? 46
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy 45
Old measures and new scores in spinal muscular atrophy patients 44
Selective short-term verbal memory involvement in two siblings carrying centronuclear myopathy due to DNM2 gene mutations 44
Impaired rotational mechanics and strain revealing subclinical left ventricular dysfunction in children with Duchenne muscular dystrophy: a skeckle tracking study. 44
Congenital myastenic syndromes due a novel GFPT1 mutation: a new Italian case 42
Burden, professional support, and social network in families of children and young adults with muscular dystrophies 42
Impaired rotational mechanics and strain revealing subclinical left ventricular dysfunction in children with neuromuscolar disorders: a speckle tracking study 41
study of flavocoxid in ambulant DMD patients. 40
Teriparatide (rhPTH 1-34) in Duchenne Muscular Dystrophy related osteoporosis: a case report. 40
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. 40
Burden, social network and professional support in the families of patients with muscular dystrophies: results from the GUP10002 study. 40
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 40
Psychosocial impact of sport activity in neuromuscular disorders 40
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study 40
Congenital muscular dystrophies with cognitive impairment. A population study. 39
The respiratory symptom check-list for patients with myotonic dystrophies: preliminary results. 39
The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis 39
Stato dell'arte sulle terapie della Distrofia muscolare di Duchenne. 36
Congenital muscular dystrophies with cognitive impairment. A population study. 34
The first report of a patient carrying an out-of-frame exon2 deletion in the dystrophin gene and showing a very unusual phenotype. 34
“I have got something positive out of this situation”: Psychological benefits of caregiving in relatives of young people with muscular dystrophy 33
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen 32
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. 31
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys 31
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function 31
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 31
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy 30
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 30
Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy. 30
The first report of a patient carrying an out-of-frame exon2 deletion in the dystrophin gene and showing a very unusual phenotype. 29
Pilot study of flavocoxid in ambulant DMD patients. 28
null 27
Activation of NF-kappaB pathway in Duchenne muscular dystrophy: relation to age 26
Clinical Variability in Spinal Muscular Atrophy Type III 25
Pilot study of flavocoxid in ambulant DMD patients. 23
null 22
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. 21
null 20
null 20
Sleep disorders in spinal muscular atrophy 20
null 18
Pilot study of flavocoxid in ambulant DMD patients. 17
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 16
The genetic spectrum of a large cohort of putative CMD. 15
null 15
The families of children with muscular dystrophies: burden, social network and professional support. 14
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 14
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 13
Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire 12
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 12
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure 10
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy 9
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 8
null 6
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function 1
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study 1
Totale 3.870
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Categoria #
all - tutte 14.294
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 14.294
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201927 0 0 0 0 0 0 0 0 0 8 11 8
2019/2020530 13 5 10 13 14 55 42 44 30 178 81 45
2020/2021485 29 30 114 25 128 18 39 18 18 36 9 21
2021/2022508 3 45 5 34 24 4 47 19 8 57 40 222
2022/20231.493 102 154 70 109 133 132 10 72 664 9 30 8
2023/2024340 18 69 20 53 26 104 33 12 0 5 0 0
Totale 3.870