IRIS
PEDEMONTE, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 2.399
AS - Asia 15
Totale 2.414
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Nazione #
IT - Italia 2.399
CN - Cina 14
HK - Hong Kong 1
Totale 2.414
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Città #
Genoa 1.130
Genova 774
Vado Ligure 260
Rapallo 227
Bordighera 8
Beijing 7
Hong Kong 1
Totale 2.407
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Nome #
Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children 196
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 172
Respiratory pattern in a FSHD pediatric population 172
Clinical and molecular consequences of exon 78 deletion in DMD gene 169
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 162
Detection of early nocturnal hypoventilation in neuromuscular disorders 140
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 127
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 126
Respiratory pattern in a FSDH paediatric population 120
Indagini morfologiche e genetico-metaboliche nelle malattie muscolari 87
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 86
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 82
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 79
Emergencies cards for neuromuscular disorders 1stConsensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report 68
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation 66
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 53
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 53
Long term follow-up of scoliosis progression in type II SMA patients 46
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 44
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 39
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 36
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 34
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 34
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 32
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 31
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 29
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 26
Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3‐Year Study 26
Predictive energy equations for spinal muscular atrophy type i children 24
Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability 23
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 23
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy 19
Early treatment of type II SMA slows rate of progression of scoliosis 19
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 18
Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care setting 16
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 13
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy 13
Totale 2.503
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Categoria #
all - tutte 9.746
article - articoli 9.746
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 19.492
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021101 0 0 0 9 6 4 13 22 8 20 5 14
2021/2022135 10 4 8 14 4 13 1 28 11 13 5 24
2022/2023275 17 29 1 42 36 35 5 23 36 5 40 6
2023/2024243 10 9 28 49 16 40 20 12 6 8 14 31
2024/2025719 21 36 32 59 66 67 56 130 40 46 87 79
2025/2026437 188 41 116 92 0 0 0 0 0 0 0 0
Totale 2.503