PERA, MARIA CARMELA
 Distribuzione geografica
Continente #
AS - Asia 2.095
NA - Nord America 671
SA - Sud America 606
EU - Europa 601
AF - Africa 142
OC - Oceania 1
Totale 4.116
Nazione #
SG - Singapore 1.118
US - Stati Uniti d'America 617
BR - Brasile 483
CN - Cina 349
HK - Hong Kong 241
VN - Vietnam 231
NL - Olanda 183
ZA - Sudafrica 117
IT - Italia 114
AR - Argentina 57
RU - Federazione Russa 56
FR - Francia 51
DE - Germania 45
AT - Austria 36
IE - Irlanda 35
BD - Bangladesh 32
GB - Regno Unito 27
MX - Messico 24
EC - Ecuador 19
IQ - Iraq 19
CA - Canada 16
IN - India 16
PK - Pakistan 16
CO - Colombia 12
PY - Paraguay 10
TR - Turchia 9
UY - Uruguay 9
ID - Indonesia 8
PL - Polonia 8
SE - Svezia 8
TN - Tunisia 8
VE - Venezuela 8
JO - Giordania 7
JP - Giappone 7
LT - Lituania 7
BG - Bulgaria 5
KR - Corea 5
MA - Marocco 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
CL - Cile 4
DO - Repubblica Dominicana 4
EG - Egitto 4
UA - Ucraina 4
AL - Albania 3
CH - Svizzera 3
ES - Italia 3
HN - Honduras 3
IR - Iran 3
KE - Kenya 3
NP - Nepal 3
SA - Arabia Saudita 3
BA - Bosnia-Erzegovina 2
CR - Costa Rica 2
DZ - Algeria 2
EE - Estonia 2
FI - Finlandia 2
GY - Guiana 2
IL - Israele 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LK - Sri Lanka 2
MD - Moldavia 2
AO - Angola 1
AU - Australia 1
BM - Bermuda 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CI - Costa d'Avorio 1
GE - Georgia 1
GR - Grecia 1
JM - Giamaica 1
KW - Kuwait 1
LB - Libano 1
LC - Santa Lucia 1
LV - Lettonia 1
MY - Malesia 1
NI - Nicaragua 1
OM - Oman 1
PE - Perù 1
RO - Romania 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
Totale 4.116
Città #
Singapore 510
Hong Kong 238
Beijing 144
Dallas 115
Santa Clara 113
Johannesburg 107
Ho Chi Minh City 85
Ashburn 81
Groningen 72
Hanoi 59
Los Angeles 37
Moscow 36
São Paulo 35
Dublin 34
Rio de Janeiro 32
Buffalo 25
Nuremberg 24
Milan 21
Munich 17
New York 15
Hefei 14
Parma 14
Shanghai 14
Brasília 12
Vienna 12
San Francisco 10
Bologna 9
Columbus 9
Haiphong 9
Quito 9
Amman 7
Boston 7
Guangzhou 7
Ninh Bình 7
Tokyo 7
Warsaw 7
Brooklyn 6
Chicago 6
Curitiba 6
Da Nang 6
London 6
Phoenix 6
Tianjin 6
Toronto 6
Aracaju 5
Belo Horizonte 5
Biên Hòa 5
Can Tho 5
Caracas 5
Carpi 5
Denver 5
Erbil 5
Forlì 5
Karachi 5
Montreal 5
New Delhi 5
Rosario 5
Stockholm 5
Amsterdam 4
Ankara 4
Baghdad 4
Baku 4
Boardman 4
Bogotá 4
Brescia 4
Buenos Aires 4
Caxias do Sul 4
Dhaka 4
Formosa 4
Guarulhos 4
Guayaquil 4
Hải Dương 4
Maldonado 4
Mexico City 4
Montevideo 4
Porto Alegre 4
Secaucus 4
Shijiazhuang 4
Sofia 4
Tashkent 4
Uberlândia 4
Villiers-sur-Marne 4
Xinxiang 4
Americana 3
Asunción 3
Bắc Ninh 3
Campinas 3
Campos Novos 3
Catania 3
Ciudad del Este 3
Colombo 3
Conselheiro Lafaiete 3
Gustavo Adolfo Madero 3
Houston 3
Islamabad 3
Itajubá 3
Jacareí 3
Limeira 3
Lấp Vò 3
Maceió 3
Totale 2.223
Nome #
Airway Colonization in Children with Medical Complexity: Challenges and Management Strategies 122
Myostatin Modulation in Spinal Muscular Atrophy: A Systematic Review of Preclinical and Clinical Evidence 72
Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review 71
Beyond Muscle Weakness: Unraveling Endocrine and Metabolic Dysfunctions in Duchenne Muscular Dystrophy, a Narrative Review 62
Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study 60
Risdiplam in Type 1 Spinal Muscular Atrophy 57
An observational study of functional abilities in infants, children, and adults with type 1 SMA 54
What did we learn from new treatments in SMA? A narrative review 54
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA 54
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy 53
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 53
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 51
Longitudinal Assessment of 4‐Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen 50
Longitudinal natural history of type I spinal muscular atrophy: A critical review 50
6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction 48
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 48
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study 48
An observational study of functional abilities in infants, children, and adults with type 1 SMA 47
Developmental milestones in type I spinal muscular atrophy 47
Assessing floppy infants: a new module 46
Spinal muscular atrophy — insights and challenges in the treatment era 46
Developmental milestones in type I spinal muscular atrophy 46
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis 46
How to Manage Electrical Status Epilepticus in Sleep 44
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study 44
Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data 43
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 43
Sleep disorders in spinal muscular atrophy 43
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 43
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA 43
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 42
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 42
Clinical Variability in Spinal Muscular Atrophy Type III 42
Regional hippocampal involvement and cognitive impairment in pediatric multiple sclerosis 42
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? 41
Early neurodevelopmental assessment in Duchenne muscular dystrophy 41
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module 41
Revised north star ambulatory assessment for young boys with Duchenne muscular dystrophy 41
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 41
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 40
Neonatal hypotonia and neuromuscular conditions 40
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen 40
Italian validation of the SMA independence scale–upper limb module 40
Caregivers’ Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study 40
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression 40
Different trajectories in upper limb and gross motor function in spinal muscular atrophy 40
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure 39
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 39
Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study 39
Pregnancy in the Era of Disease-Modifying Therapies for Spinal Muscular Atrophy: Considerations From a Case Report 39
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment 39
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? 39
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 38
Regional hippocampal involvement and cognitive impairment in pediatric multiple sclerosis 37
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial 37
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study 37
Paediatric optic neuritis: factors leading to unfavourable outcome and relapses 37
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy 37
Cognitive impairment in paediatric multiple sclerosis patients is not related to cortical lesions 36
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standars of Care? 36
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 36
Long term follow-up of scoliosis progression in type II SMA patients 36
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 36
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 35
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage 35
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 34
Old measures and new scores in spinal muscular atrophy patients 34
Therapy of encephalopathy with status epilepticus during sleep (ESES/CSWS syndrome): an update 34
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients 34
Development of an academic disease registry for spinal muscular atrophy 33
Gain and loss of abilities in type II SMA: A 12-month natural history study 33
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey 33
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls 33
Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options 33
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients 33
Early treatment of type II SMA slows rate of progression of scoliosis 33
Long-term evolution of neuropsychological competences in encephalopathy with status epilepticus during sleep: a variable prognosis 32
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy 32
Predominant distal muscle involvement in spinal muscular atrophy 32
Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function 32
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded 32
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) 31
Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy 31
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 31
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy 31
Traumatic Childbirth Experiences and their Association with Postpartum Psychiatric Disorders: A Systematic Review 31
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment? 30
Long-term progression in type II spinal muscular atrophy: A retrospective observational study 30
Revised upper limb module for spinal muscular atrophy: 12 month changes 30
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening 30
Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy? 30
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials 29
Revised upper limb module for spinal muscular atrophy: Development of a new module 29
Revised upper limb module for spinal muscular atrophy: Development of a new module 28
Posterior brain damage and cognitive impairment in pediatric multiple sclerosis 28
Sudden and isolated Broca's aphasia: a new clinical phenotype of anti NMDA receptor antibodies encephalitis in children 27
MRI substrates of sustained attention system and cognitive impairment in pediatric MS patients 27
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes 27
Treatment of spinal muscular atrophy 27
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples 26
Totale 4.028
Categoria #
all - tutte 16.355
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 16.355


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/20251.631 0 0 318 55 85 97 50 55 234 215 111 411
2025/20262.601 325 491 635 479 585 86 0 0 0 0 0 0
Totale 4.232