IRIS
BROLATTI, NOEMI
 Distribuzione geografica
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Continente #
EU - Europa 319
Totale 319
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Nazione #
IT - Italia 319
Totale 319
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Città #
Genoa 151
Vado Ligure 86
Rapallo 60
Genova 19
Bordighera 3
Totale 319
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Nome #
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 53
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
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial 30
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 26
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
SMA 2.0: NUOVE STRATEGIE PER UNA NUOVA MALATTIA. 18
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 18
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 13
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study 13
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
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 8
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 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
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded. 3
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study 2
Totale 345
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Categoria #
all - tutte 2.461
article - articoli 2.384
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.845
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20215 0 0 0 0 0 0 0 0 3 0 2 0
2021/202216 0 0 0 0 1 1 0 5 1 3 0 5
2022/202372 4 4 0 5 10 5 5 5 11 2 21 0
2023/2024155 5 3 18 30 9 14 7 6 3 7 21 32
2024/202597 10 21 13 35 18 0 0 0 0 0 0 0
Totale 345