TRUCCO, FEDERICA
 Distribuzione geografica
Continente #
EU - Europa 1.709
Totale 1.709
Nazione #
IT - Italia 1.709
Totale 1.709
Città #
Genova 1.248
Genoa 232
Rapallo 210
Bordighera 19
Totale 1.709
Nome #
Respiratory pattern in a FSHD pediatric population 142
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 130
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 125
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 120
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 119
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 119
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 113
Clinical and genetic characterization of Chanarin-Dorfman syndrome 112
Detection of early nocturnal hypoventilation in neuromuscular disorders 111
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. 97
Respiratory pattern in a FSDH paediatric population 96
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 89
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 88
Diagnosis and management of respiratory impairment in paediatric neuromuscular disorders 82
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 60
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 9
Respiratory Assessment and management of Pediatric neuromuscular Disease" 7
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvement 7
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 6
Cardiorespiratory progression over 5 years and role of corticosteroids in Duchenne muscular dystrophies: a single-site retrospective longitudinal study 6
Inflammation in children with neuromuscular disorders and sleep disordered breathing 5
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 5
Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders - The Holy Grail 5
MANAGEMENT OF CENTRAL APNOEAS – ANALYSIS OFA PAEDIATRIC COHORT REFERRED TO A TERTIARYCARE SLEEP SERVICE 5
Feasibility and parental perception of home sleep studies during Covid-19: a tertiary sleep centre experience 5
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach 5
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study 5
Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3 4
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 4
Capitolo 20_Le Malattie Neuromuscolari 3
The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities 3
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 2
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice 2
RESPIRATORY ANNUAL REVIEW FOR CHILDREN &YOUNG PEOPLE WITH NEUROMUSCULAR CONDITIONSAND COMPLEX NEURODISABILITY: A PILOT STUDY 2
Reducing the need for carbon dioxide monitoring in the investigation of paediatric sleep disordered breathing 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
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy 2
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy 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
Sleep disordered breathing and ventilatory support in children with Down syndrome 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
Pseudo-obstructive events in Spinal Muscular Atrophy as a potential marker for disease progression 1
Totale 1.815
Categoria #
all - tutte 5.906
article - articoli 5.615
book - libri 22
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 24
Totale 11.567


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201959 0 0 0 0 0 0 0 0 0 0 0 59
2019/2020549 33 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
2023/2024238 5 19 5 25 25 53 23 30 8 8 11 26
Totale 1.815