IRIS
PEDEMONTE, MARINA
 Distribuzione geografica
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Continente #
EU - Europa 1.295
Totale 1.295
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Nazione #
IT - Italia 1.295
Totale 1.295
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Città #
Genova 774
Genoa 283
Rapallo 227
Bordighera 8
Vado Ligure 3
Totale 1.295
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Nome #
Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children 152
Respiratory pattern in a FSHD pediatric population 142
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 125
Clinical and molecular consequences of exon 78 deletion in DMD gene 123
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 121
Detection of early nocturnal hypoventilation in neuromuscular disorders 111
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 101
Respiratory pattern in a FSDH paediatric population 96
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder 94
Indagini morfologiche e genetico-metaboliche nelle malattie muscolari 57
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 34
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 31
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 29
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation 29
Emergencies cards for neuromuscular disorders 1stConsensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report 24
Long term follow-up of scoliosis progression in type II SMA patients 17
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 16
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course 10
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 9
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 7
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 7
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 6
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 5
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data 5
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen 5
Predictive energy equations for spinal muscular atrophy type i children 4
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 4
Type I SMA “new natural history”: long-term data in nusinersen-treated patients 4
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 3
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 2
Totale 1.373
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Categoria #
all - tutte 5.054
article - articoli 5.054
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 10.108
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020358 21 10 5 23 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
2022/2023279 17 29 1 42 36 35 5 23 36 5 44 6
2023/2024248 10 10 28 50 17 40 20 12 6 9 14 32
2024/202517 17 0 0 0 0 0 0 0 0 0 0 0
Totale 1.373