IRIS
TRUCCO, FEDERICA
 Distribuzione geografica
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Continente #
EU - Europa 3.278
AS - Asia 198
NA - Nord America 20
SA - Sud America 20
AF - Africa 1
Totale 3.517
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Nazione #
IT - Italia 3.133
FR - Francia 141
SG - Singapore 95
CN - Cina 49
VN - Vietnam 43
US - Stati Uniti d'America 14
BR - Brasile 10
MX - Messico 6
HK - Hong Kong 5
AR - Argentina 4
EC - Ecuador 4
ID - Indonesia 2
IN - India 2
AT - Austria 1
BG - Bulgaria 1
DE - Germania 1
EG - Egitto 1
FI - Finlandia 1
IQ - Iraq 1
PY - Paraguay 1
TR - Turchia 1
VE - Venezuela 1
Totale 3.517
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Città #
Genoa 1.258
Genova 1.248
Vado Ligure 393
Rapallo 210
Singapore 25
Bordighera 19
Hanoi 14
Ashburn 12
Beijing 12
Ho Chi Minh City 12
Hong Kong 5
Mexico City 5
Guarulhos 3
Quito 3
Ciampino 2
Da Nang 2
Haiphong 2
Kanpur 2
Thái Bình 2
Tianjin 2
Alanya 1
Aracaju 1
Bình Dương 1
Bắc Ninh 1
Cachoeiro de Itapemirim 1
Changsha 1
Ciudad del Este 1
Gresik 1
Hurlingham 1
Hải Dương 1
Indiara 1
Ipatinga 1
Jakarta 1
Jiaxing 1
Lappeenranta 1
Mar del Plata 1
Mendoza 1
Milan 1
Ninh Bình 1
Nova Cruz 1
Nuremberg 1
Port Said 1
Porto Alegre 1
Poza Rica 1
San Isidro 1
San Jose 1
Santa Rosa 1
Shanghai 1
Sofia 1
Thái Nguyên 1
Tikrit 1
Vienna 1
Volta Redonda 1
Zunyi 1
Totale 3.265
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Nome #
Diagnosis and management of respiratory impairment in paediatric neuromuscular disorders 274
Mutations in GMPPB Presenting with Pseudometabolic Myopathy 183
Respiratory pattern in a FSHD pediatric population 173
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 172
Nusinersen versus sham control in infantile-onset spinal muscular atrophy 171
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients 170
Clinical and genetic characterization of Chanarin-Dorfman syndrome 149
Detection of early nocturnal hypoventilation in neuromuscular disorders 149
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 148
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 144
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 137
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. 133
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial 130
Respiratory pattern in a FSDH paediatric population 123
Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation 106
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 104
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey 65
Exploring Headaches in Pediatric Behçet Disease: Prevalence, Clinical Impact, and Management 60
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvement 56
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy 47
Chapter 2 - Pulmonary pathophysiology of neuromuscular disease 47
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency 44
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy 43
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach 43
Feasibility and parental perception of home sleep studies during Covid-19: a tertiary sleep centre experience 40
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study 39
Genetic modifiers of respiratory function in Duchenne muscular dystrophy 39
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1 38
Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy 38
Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1 36
Cardiorespiratory progression over 5 years and role of corticosteroids in Duchenne muscular dystrophies: a single-site retrospective longitudinal study 35
Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders - The Holy Grail 33
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy 32
Inflammation in children with neuromuscular disorders and sleep disordered breathing 31
Respiratory function and sleep disordered breathing in Paediatric Duchenne Muscular Dystrophy 31
Capitolo 20_Le Malattie Neuromuscolari 30
Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3 29
The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities 29
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice 28
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy 27
MANAGEMENT OF CENTRAL APNOEAS – ANALYSIS OFA PAEDIATRIC COHORT REFERRED TO A TERTIARYCARE SLEEP SERVICE 27
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 26
Pseudo-obstructive events in Spinal Muscular Atrophy as a potential marker for disease progression 24
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study 22
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 21
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study 20
Current Standards and Future Directions of Duchenne Muscular Dystrophy Respiratory Care: The PPMD Italy Meeting Report 19
null 15
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping 15
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
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 3.663
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Categoria #
all - tutte 13.386
article - articoli 12.470
book - libri 195
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 168
Totale 26.219
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021156 0 0 0 0 0 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
2025/2026819 210 38 103 108 267 93 0 0 0 0 0 0
Totale 3.663