IRIS
PERA, MARIA CARMELA
 Distribuzione geografica
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Continente #
AS - Asia 230
EU - Europa 75
NA - Nord America 53
SA - Sud America 2
OC - Oceania 1
Totale 361
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Nazione #
SG - Singapore 226
US - Stati Uniti d'America 53
IE - Irlanda 33
IT - Italia 19
FR - Francia 13
GB - Regno Unito 4
BR - Brasile 2
CH - Svizzera 2
JP - Giappone 2
NL - Olanda 2
AU - Australia 1
CN - Cina 1
DE - Germania 1
IN - India 1
UA - Ucraina 1
Totale 361
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Città #
Singapore 180
Dublin 33
Santa Clara 18
Milan 4
Villiers-sur-Marne 4
Parma 3
Casalecchio di Reno 2
Forlì 2
São Paulo 2
Tokyo 2
Zurich 2
Amsterdam 1
Bologna 1
Frankfurt am Main 1
Ivry-sur-Seine 1
Sydney 1
Totale 257
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Nome #
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 16
An observational study of functional abilities in infants, children, and adults with type 1 SMA 12
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 11
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study 11
Early neurodevelopmental assessment in Duchenne muscular dystrophy 9
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study 9
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 8
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey 7
Neonatal hypotonia and neuromuscular conditions 7
Risdiplam in Type 1 Spinal Muscular Atrophy 7
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 7
Cognitive impairment in paediatric multiple sclerosis patients is not related to cortical lesions 6
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 6
Spinal muscular atrophy — insights and challenges in the treatment era 6
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 6
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 6
Sleep disorders in spinal muscular atrophy 6
Predominant distal muscle involvement in spinal muscular atrophy 6
Revised upper limb module for spinal muscular atrophy: Development of a new module 6
Old measures and new scores in spinal muscular atrophy patients 6
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA 6
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 6
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 6
Long term follow-up of scoliosis progression in type II SMA patients 6
6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction 5
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 5
An observational study of functional abilities in infants, children, and adults with type 1 SMA 5
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 5
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 5
MRI substrates of sustained attention system and cognitive impairment in pediatric MS patients 5
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 5
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module 5
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment 5
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 5
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression 5
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 5
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy 5
Development of an academic disease registry for spinal muscular atrophy 4
Revised upper limb module for spinal muscular atrophy: Development of a new module 4
Gain and loss of abilities in type II SMA: A 12-month natural history study 4
Assessing floppy infants: a new module 4
Regional hippocampal involvement and cognitive impairment in pediatric multiple sclerosis 4
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls 4
Sudden and isolated Broca's aphasia: a new clinical phenotype of anti NMDA receptor antibodies encephalitis in children 4
Long-term evolution of neuropsychological competences in encephalopathy with status epilepticus during sleep: a variable prognosis 4
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment? 4
Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options 4
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure 4
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 4
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy 4
Long-term progression in type II spinal muscular atrophy: A retrospective observational study 4
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 4
1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015 4
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial 4
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients 4
Revised upper limb module for spinal muscular atrophy: 12 month changes 4
Therapy of encephalopathy with status epilepticus during sleep (ESES/CSWS syndrome): an update 4
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) 4
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study 4
Paediatric optic neuritis: factors leading to unfavourable outcome and relapses 4
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen 4
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 4
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 4
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 4
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients 4
SFP CO-31 - Inflammatory optic neuritis: Course and prognostic factors in 102 children|SFP CO-31 - Névrites optiques inflammatoires: évolution et facteurs pronostiques chez 102 enfants 4
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy 4
Posterior brain damage and cognitive impairment in pediatric multiple sclerosis 4
Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy 4
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA 4
Clinical Variability in Spinal Muscular Atrophy Type III 4
Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study 4
Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy? 4
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 4
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 4
Caregivers’ Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study 4
New therapies for spinal muscular atrophy: where we stand and what is next 4
Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy 4
How to Manage Electrical Status Epilepticus in Sleep 4
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool 4
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy 4
Developmental milestones in type I spinal muscular atrophy 4
Longitudinal natural history of type I spinal muscular atrophy: A critical review 4
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage 4
Developmental milestones in type I spinal muscular atrophy 4
Early treatment of type II SMA slows rate of progression of scoliosis 3
Regional hippocampal involvement and cognitive impairment in pediatric multiple sclerosis 3
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis 3
Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019 2
Totale 450
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Categoria #
all - tutte 3.422
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 3.422
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/2025450 0 0 318 55 77 0 0 0 0 0 0 0
Totale 450