IRIS
TRUCCO, FEDERICA
 Distribuzione geografica
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Continente #
EU - Europa 3.129
AS - Asia 8
SA - Sud America 3
NA - Nord America 2
Totale 3.142
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Nazione #
IT - Italia 3.128
SG - Singapore 7
BR - Brasile 3
US - Stati Uniti d'America 2
CN - Cina 1
FI - Finlandia 1
Totale 3.142
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Città #
Genoa 1.257
Genova 1.248
Vado Ligure 393
Rapallo 210
Bordighera 19
Ashburn 2
Singapore 2
Beijing 1
Cachoeiro de Itapemirim 1
Guarulhos 1
Lappeenranta 1
Nova Cruz 1
Totale 3.136
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Nome #
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 173
Respiratory pattern in a FSHD pediatric population 172
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 164
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 164
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 162
Clinical and genetic characterization of Chanarin-Dorfman syndrome 142
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 141
Detection of early nocturnal hypoventilation in neuromuscular disorders 140
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 138
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 128
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 127
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. 126
Respiratory pattern in a FSDH paediatric population 120
Diagnosis and management of respiratory impairment in paediatric neuromuscular disorders 119
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 103
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 96
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 55
Exploring Headaches in Pediatric Behçet Disease: Prevalence, Clinical Impact, and Management 53
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvement 48
Chapter 2 - Pulmonary pathophysiology of neuromuscular disease 42
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy 40
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 39
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 39
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy 37
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach 36
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 34
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 34
Feasibility and parental perception of home sleep studies during Covid-19: a tertiary sleep centre experience 34
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy 32
Cardiorespiratory progression over 5 years and role of corticosteroids in Duchenne muscular dystrophies: a single-site retrospective longitudinal study 31
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy 31
Inflammation in children with neuromuscular disorders and sleep disordered breathing 30
Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1 30
The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities 29
Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders - The Holy Grail 28
Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3 28
Respiratory function and sleep disordered breathing in Paediatric Duchenne Muscular Dystrophy 28
MANAGEMENT OF CENTRAL APNOEAS – ANALYSIS OFA PAEDIATRIC COHORT REFERRED TO A TERTIARYCARE SLEEP SERVICE 27
Capitolo 20_Le Malattie Neuromuscolari 26
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 24
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice 24
Pseudo-obstructive events in Spinal Muscular Atrophy as a potential marker for disease progression 23
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study 22
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy 20
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 20
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 18
Current Standards and Future Directions of Duchenne Muscular Dystrophy Respiratory Care: The PPMD Italy Meeting Report 15
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Sleep disordered breathing and ventilatory support in children with Down syndrome 14
Pseudo-obstructive sleep disordered breathing – definition and progression in Spinal Muscular Atrophy 13
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping 13
Reducing the need for carbon dioxide monitoring in the investigation of paediatric sleep disordered breathing 12
RESPIRATORY ANNUAL REVIEW FOR CHILDREN &YOUNG PEOPLE WITH NEUROMUSCULAR CONDITIONSAND COMPLEX NEURODISABILITY: A PILOT STUDY 11
Sleep outcomes in spinal muscular atrophy and role of disease-modifying treatments 11
Unravelling the complexity of respiratory involvement in Duchenne muscular dystrophy: An urgent call for a collective translational approach 7
Totale 3.288
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Categoria #
all - tutte 12.464
article - articoli 11.735
book - libri 182
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 156
Totale 24.537
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021178 0 0 0 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
2024/20251.019 36 84 50 53 136 84 112 143 32 50 95 144
2025/2026444 210 38 103 93 0 0 0 0 0 0 0 0
Totale 3.288