IRIS
PEDEMONTE, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 1.552
Totale 1.552
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Nazione #
IT - Italia 1.552
Totale 1.552
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Città #
Genova 774
Genoa 283
Vado Ligure 260
Rapallo 227
Bordighera 8
Totale 1.552
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Nome #
Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children 163
Respiratory pattern in a FSHD pediatric population 152
Clinical and molecular consequences of exon 78 deletion in DMD gene 141
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 137
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 133
Detection of early nocturnal hypoventilation in neuromuscular disorders 122
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 109
Respiratory pattern in a FSDH paediatric population 106
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 103
Indagini morfologiche e genetico-metaboliche nelle malattie muscolari 63
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 47
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 43
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation 43
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 42
Emergencies cards for neuromuscular disorders 1stConsensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report 33
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 26
Long term follow-up of scoliosis progression in type II SMA patients 23
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 18
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 16
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 13
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 13
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 13
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 12
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 11
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 11
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 10
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 10
Predictive energy equations for spinal muscular atrophy type i children 9
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 7
Totale 1.629
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Categoria #
all - tutte 6.825
article - articoli 6.825
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 13.650
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020240 0 0 0 0 0 0 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
2024/2025282 21 36 32 59 66 67 1 0 0 0 0 0
Totale 1.629