Histological effects of givinostat in boys with Duchenne muscular dystrophy

P. Bettica, Stefania Petrini, Valentina Doria, +16

Neuromuscular Disorders

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

Diego Martinelli, Michela Catteruccia, Fiorella Piemonte, +13

Molecular Genetics and Metabolism

Mitochondrial FunctionGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology +7

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Michelangelo Mancuso, Daniele Orsucci, C. Angelini, +28

Journal of Neurology

BiologyMendelian DisorderGenetic DisorderGeneticsRelated Phenotypes +3

Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data

Marika Pane, Giorgia Coratti, Valeria Sansone, +20

Annals of Neurology

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

Marika Pane, Elena Mazzone, Lavinia Fanelli, +39

Neuromuscular Disorders

KinesiologyUpper Limb AssessmentMuscle InjuryDuchenne Muscular DystrophyUpper Extremity +7

Redefining phenotypes associated with mitochondrial DNA single deletion

Michelangelo Mancuso, Daniele Orsucci, C. Angelini, +31

Journal of Neurology

BiologyMitochondrial FunctionNatural SciencesGeneticsDna Replication +2

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway

Sara Petrillo, Laura Pelosi, Fiorella Piemonte, +8

Human Molecular Genetics

InflammationReductive StressRedox SignalingDmd PatientsBiochemistry +13

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

Marika Pane, Concetta Palermo, Sonia Messina, +15

Neuromuscular Disorders

Type 1KinesiologyMotor DevelopmentPediatricsSma Infants +4

Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen

Valeria Sansone, Alice Pirola, Emilio Albamonte, +21

The Journal of Pediatrics

Type 1Spinal Cord InjuryPulmonary CareRespiratory NeedsPulmonary Medicine +3

Early neurodevelopmental assessment in Duchenne muscular dystrophy

Marika Pane, Roberta Scalise, Angela Berardinelli, +24

Neuromuscular Disorders

Brain DevelopmentDuchenne Muscular DystrophyNeurodevelopmentNeuroscienceNeuropathology +3