Clinical and genetic characterization of Chanarin–Dorfman syndrome

Claudio Bruno, Enrico Bertini, Maja Di Rocco, +13

Biochemical and Biophysical Research Communications

Genetic DisorderGeneticsChanarin–dorfman SyndromePathologyMedical Genetics +2

Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

Federica Trucco, Deborah Ridout, Mariacristina Scoto, +27

Neurology

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

Adele D’Amico, Michela Catteruccia, Giovanni Baranello, +26

Neuromuscular Disorders

UrologyCritical IssuesDuchenne Muscular DystrophyMedicineDifferential Diagnosis +8

Sleep disordered breathing and ventilatory support in children with Down syndrome

Federica Trucco, Michelle Chatwin, Thomas Semple, +3

Pediatric Pulmonology

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy

Riccardo Papa, Francesca Madia, Domenico Bartolomeo, +8

Pediatric Neurology

Duchenne/becker Muscular DystrophyRare DiseasesMendelian DisorderFemales HeterozygousGenetic Disorder +7

Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy

Federica Trucco, Joana Domingos, Chee Geap Tay, +14

CHEST Journal

Adrenal GlandHealth SciencesSkeletal MuscleDuchenne Muscular DystrophyPhysiology +6

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

Luca Bello, Maria Grazia D’Angelo, Matteo Villa, +36

Annals of Clinical and Translational Neurology

Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy

Alberto A. Zambon, Vandana Ayyar Gupta, Deborah Ridout, +4

Developmental Medicine & Child Neurology

Detection of early nocturnal hypoventilation in neuromuscular disorders

Federica Trucco, Marina Pedemonte, Chiara Fiorillo, +6

Journal of International Medical Research

Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial

Federica Trucco, Marina Pedemonte, Fabrizio Racca, +9

Journal of Telemedicine and Telecare