IRIS
BROLATTI, NOEMI
 Distribuzione geografica
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Continente #
EU - Europa 1.059
AS - Asia 37
SA - Sud America 2
NA - Nord America 1
Totale 1.099
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Nazione #
IT - Italia 1.059
CN - Cina 21
SG - Singapore 12
BR - Brasile 2
VN - Vietnam 2
HK - Hong Kong 1
IQ - Iraq 1
US - Stati Uniti d'America 1
Totale 1.099
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Città #
Genoa 829
Vado Ligure 146
Rapallo 60
Genova 19
Beijing 6
Bordighera 3
Rome 2
Ashburn 1
Baghdad 1
Biên Hòa 1
Hanoi 1
Hong Kong 1
Minas Novas 1
Mogi das Cruzes 1
Singapore 1
Totale 1.073
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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 88
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 87
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial 81
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 70
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial 56
Body mass index in type 2 spinal muscular atrophy: a longitudinal study 54
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients 53
Long term follow-up of scoliosis progression in type II SMA patients 46
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 45
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy 45
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 39
SMA 2.0: NUOVE STRATEGIE PER UNA NUOVA MALATTIA. 39
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study 38
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion 37
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies 36
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 34
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded. 33
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study 30
D- and L-Amino Acid Blood Concentrations Are Affected in Children With Duchenne Muscular Dystrophy 27
Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3‐Year Study 27
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen 26
Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability 23
Italian validation of the SMA independence scale–upper limb module 21
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy 20
Early treatment of type II SMA slows rate of progression of scoliosis 20
Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care setting 18
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 13
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy 13
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA 13
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module 7
Totale 1.139
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Categoria #
all - tutte 5.256
article - articoli 5.072
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 10.328
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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
2024/2025489 10 21 13 35 37 45 41 82 43 31 71 60
2025/2026402 171 32 87 111 1 0 0 0 0 0 0 0
Totale 1.139