about
Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging optionsMolecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian populationAbdominal volume contribution to tidal volume as an early indicator of respiratory impairment in Duchenne muscular dystrophyEarly onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A geneClinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudyCorrelation of circulating CD133+ progenitor subclasses with a mild phenotype in Duchenne muscular dystrophy patientsCo-administration of ibuprofen and nitric oxide is an effective experimental therapy for muscular dystrophy, with immediate applicability to humans.Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfectaMutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial.The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boysEarly Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study.ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesTimed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.Cognitive impairment in neuromuscular disorders.A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.Burden, professional support, and social network in families of children and young adults with muscular dystrophies."I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample.Sleep Disordered Breathing in Duchenne Muscular Dystrophy.Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.Intraarterial injection of muscle-derived CD34(+)Sca-1(+) stem cells restores dystrophin in mdx mice.Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.Chemotactic factors enhance myogenic cell migration across an endothelial monolayer.The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.Early neurodevelopmental assessment in Duchenne muscular dystrophy.Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.Gait pattern in Duchenne muscular dystrophy.Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.Paediatric biobanks: opinions, feelings and attitudes of parents towards the specimen donation of their sick children to a hypothetical biobank.Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy.Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
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Maria Grazia D'Angelo
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Maria Grazia D'Angelo
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Maria Grazia D'Angelo
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Maria Grazia D'Angelo
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Maria Grazia D'Angelo
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Maria Grazia D'Angelo
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Maria Grazia D'Angelo
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Maria Grazia D'Angelo
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Maria Grazia D'Angelo
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P106
P1153
7006065380
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P31
P496
0000-0003-1241-4350