IRIS
TRUCCO, FEDERICA
 Distribuzione geografica
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Continente #
EU - Europa 2.132
Totale 2.132
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Nazione #
IT - Italia 2.132
Totale 2.132
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Città #
Genova 1.248
Vado Ligure 393
Genoa 262
Rapallo 210
Bordighera 19
Totale 2.132
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Nome #
Respiratory pattern in a FSHD pediatric population 152
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 142
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 137
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 133
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 131
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 127
Clinical and genetic characterization of Chanarin-Dorfman syndrome 123
Detection of early nocturnal hypoventilation in neuromuscular disorders 122
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 121
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 109
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. 108
Respiratory pattern in a FSDH paediatric population 106
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 96
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 94
Diagnosis and management of respiratory impairment in paediatric neuromuscular disorders 94
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 69
Exploring Headaches in Pediatric Behçet Disease: Prevalence, Clinical Impact, and Management 22
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 21
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 18
Chapter 2 - Pulmonary pathophysiology of neuromuscular disease 18
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvement 18
Cardiorespiratory progression over 5 years and role of corticosteroids in Duchenne muscular dystrophies: a single-site retrospective longitudinal study 16
Inflammation in children with neuromuscular disorders and sleep disordered breathing 14
Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders - The Holy Grail 14
null 14
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 13
Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3 13
Feasibility and parental perception of home sleep studies during Covid-19: a tertiary sleep centre experience 13
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy 13
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach 13
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy 12
MANAGEMENT OF CENTRAL APNOEAS – ANALYSIS OFA PAEDIATRIC COHORT REFERRED TO A TERTIARYCARE SLEEP SERVICE 12
Capitolo 20_Le Malattie Neuromuscolari 12
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy 11
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy 11
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study 11
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 10
Respiratory function and sleep disordered breathing in Paediatric Duchenne Muscular Dystrophy 10
The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities 10
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice 9
Pseudo-obstructive events in Spinal Muscular Atrophy as a potential marker for disease progression 9
Sleep disordered breathing and ventilatory support in children with Down syndrome 9
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 8
Reducing the need for carbon dioxide monitoring in the investigation of paediatric sleep disordered breathing 8
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping 8
RESPIRATORY ANNUAL REVIEW FOR CHILDREN &YOUNG PEOPLE WITH NEUROMUSCULAR CONDITIONSAND COMPLEX NEURODISABILITY: A PILOT STUDY 7
Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1 7
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 7
Pseudo-obstructive sleep disordered breathing – definition and progression in Spinal Muscular Atrophy 6
Sleep outcomes in spinal muscular atrophy and role of disease-modifying treatments 6
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 4
Totale 2.271
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Categoria #
all - tutte 8.487
article - articoli 8.015
book - libri 90
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 80
Totale 16.672
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020360 0 0 0 0 0 0 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
2024/2025446 36 84 50 53 136 84 3 0 0 0 0 0
Totale 2.271