IRIS
PEDEMONTE, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 1.452
Totale 1.452
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Nazione #
IT - Italia 1.452
Totale 1.452
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Città #
Genova 774
Genoa 275
Rapallo 227
Vado Ligure 168
Bordighera 8
Totale 1.452
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Nome #
Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children 158
Respiratory pattern in a FSHD pediatric population 148
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 133
Clinical and molecular consequences of exon 78 deletion in DMD gene 131
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 131
Detection of early nocturnal hypoventilation in neuromuscular disorders 119
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 107
Respiratory pattern in a FSDH paediatric population 102
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 98
Indagini morfologiche e genetico-metaboliche nelle malattie muscolari 61
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 42
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 41
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 36
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation 36
Emergencies cards for neuromuscular disorders 1stConsensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report 30
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 23
Long term follow-up of scoliosis progression in type II SMA patients 21
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 16
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 14
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 11
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 10
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 10
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 9
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 8
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 8
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 7
Predictive energy equations for spinal muscular atrophy type i children 7
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 7
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 5
Totale 1.529
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Categoria #
all - tutte 6.241
article - articoli 6.241
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 12.482
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020299 0 0 0 0 20 39 53 49 52 50 27 9
2020/2021124 7 11 5 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
2024/2025182 21 36 32 59 34 0 0 0 0 0 0 0
Totale 1.529