IRIS
BROLATTI, NOEMI
 Distribuzione geografica
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Continente #
EU - Europa 236
Totale 236
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Nazione #
IT - Italia 236
Totale 236
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Città #
Genoa 107
Rapallo 84
Genova 40
Bordighera 5
Totale 236
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Nome #
Anterior chest wall deformities in children with neurofibromatosis type 1 57
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 46
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 32
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 27
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial 24
Long term follow-up of scoliosis progression in type II SMA patients 16
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 14
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 8
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 6
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 5
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 5
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 4
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 3
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 3
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 2
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 2
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study 2
Totale 256
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Categoria #
all - tutte 1.599
article - articoli 1.599
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.198
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202112 0 0 0 3 0 0 0 2 3 2 2 0
2021/202231 3 0 0 1 1 2 1 7 3 7 0 6
2022/202399 5 6 0 12 12 10 5 5 15 4 25 0
2023/2024114 5 4 18 33 9 14 8 11 4 8 0 0
Totale 256