IRIS
TRUCCO, FEDERICA
 Distribuzione geografica
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Continente #
EU - Europa 1.759
Totale 1.759
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Nazione #
IT - Italia 1.759
Totale 1.759
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Città #
Genova 1.248
Genoa 256
Rapallo 210
Vado Ligure 26
Bordighera 19
Totale 1.759
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Nome #
Respiratory pattern in a FSHD pediatric population 142
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 133
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 125
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 121
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 121
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 119
Detection of early nocturnal hypoventilation in neuromuscular disorders 115
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 114
Clinical and genetic characterization of Chanarin-Dorfman syndrome 112
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 101
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation. 98
Respiratory pattern in a FSDH paediatric population 96
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 91
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 89
Diagnosis and management of respiratory impairment in paediatric neuromuscular disorders 84
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 60
Chapter 2 - Pulmonary pathophysiology of neuromuscular disease 10
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 10
Inflammation in children with neuromuscular disorders and sleep disordered breathing 9
Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders - The Holy Grail 9
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvement 9
MANAGEMENT OF CENTRAL APNOEAS – ANALYSIS OFA PAEDIATRIC COHORT REFERRED TO A TERTIARYCARE SLEEP SERVICE 8
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 7
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 7
Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3 7
Cardiorespiratory progression over 5 years and role of corticosteroids in Duchenne muscular dystrophies: a single-site retrospective longitudinal study 7
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study 7
Capitolo 20_Le Malattie Neuromuscolari 6
Feasibility and parental perception of home sleep studies during Covid-19: a tertiary sleep centre experience 6
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy 6
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach 6
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 5
The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities 5
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy 5
Pseudo-obstructive events in Spinal Muscular Atrophy as a potential marker for disease progression 4
Sleep disordered breathing and ventilatory support in children with Down syndrome 4
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 3
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice 3
Reducing the need for carbon dioxide monitoring in the investigation of paediatric sleep disordered breathing 3
RESPIRATORY ANNUAL REVIEW FOR CHILDREN &YOUNG PEOPLE WITH NEUROMUSCULAR CONDITIONSAND COMPLEX NEURODISABILITY: A PILOT STUDY 2
Respiratory function and sleep disordered breathing in Paediatric Duchenne Muscular Dystrophy 2
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 2
Sleep outcomes in spinal muscular atrophy and role of disease-modifying treatments 2
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy 2
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping 2
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 1
Pseudo-obstructive sleep disordered breathing – definition and progression in Spinal Muscular Atrophy 1
Totale 1.881
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Categoria #
all - tutte 6.576
article - articoli 6.233
book - libri 41
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 42
Totale 12.892
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020516 0 18 13 31 36 58 77 78 54 78 56 17
2020/2021221 13 19 11 15 7 10 18 49 13 32 11 23
2021/2022219 8 6 10 22 5 24 13 51 16 17 9 38
2022/2023256 22 37 4 32 29 41 0 18 38 3 31 1
2023/2024248 5 19 5 25 25 53 23 30 8 8 11 36
2024/202556 36 20 0 0 0 0 0 0 0 0 0 0
Totale 1.881