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List of works by Maria Grazia D'Angelo

"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.

scientific article

3D gait analysis in patients with hereditary spastic paraparesis and spastic diplegia: a kinematic, kinetic and EMG comparison

scientific article published on 15 September 2010

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

scientific article from 2008

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

scientific article published on 28 April 2016

A novel mitochondrial tRNA Ile point mutation in chronic progressive external ophthalmoplegia

scientific article published in October 1998

Abdominal volume contribution to tidal volume as an early indicator of respiratory impairment in Duchenne muscular dystrophy

scientific article

Alterations of thoraco-abdominal volumes and asynchronies in patients with spinal muscle atrophy type III

scientific article published on 12 March 2014

Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample.

scientific article published on 24 March 2017

Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options

scientific article

Assessment of diaphragmatic thickness by ultrasonography in Duchenne muscular dystrophy (DMD) patients.

scientific article

Autonomy level and quality of everyday experience of people with Hereditary Spastic Paraplegia

scientific article published on 17 July 2019

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.

scientific article published on 17 July 2015

Burden, professional support, and social network in families of children and young adults with muscular dystrophies.

scientific article published on 22 April 2015

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

scientific article published on 11 July 2009

Chemotactic factors enhance myogenic cell migration across an endothelial monolayer.

scientific article

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

scientific article

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

scientific article

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

scientific article published on 31 January 2011

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

scientific article published in February 2008

Co-administration of ibuprofen and nitric oxide is an effective experimental therapy for muscular dystrophy, with immediate applicability to humans.

scientific article

Cognitive impairment in neuromuscular disorders.

scientific article

Correlation of circulating CD133+ progenitor subclasses with a mild phenotype in Duchenne muscular dystrophy patients

scientific article

Determinants of cough efficiency in Duchenne muscular dystrophy

scientific article published on 14 July 2013

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

scientific article published on 14 February 2017

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study

scientific article published on 14 August 2015

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

scientific article published on 25 March 2013

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene

scientific article

Effects of gender and posture on thoraco-abdominal kinematics during quiet breathing in healthy adults.

scientific article published on 25 May 2010

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

scientific article

Functional and Structural Brain Damage in Friedreich's Ataxia

scientific article published on 06 September 2018

Gait pattern in Duchenne muscular dystrophy.

scientific article published on 25 July 2008

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

scientific article published on 12 March 2011

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.

scientific article

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

scientific article published on 24 September 2015

Incidence rate and predictors of permanent pacemaker implantation after transcatheter aortic valve implantation with self-expanding CoreValve prosthesis

scientific article published on 26 November 2011

Intraarterial injection of muscle-derived CD34(+)Sca-1(+) stem cells restores dystrophin in mdx mice.

scientific article published on January 2001

Intraoperative defibrillation threshold testing during implantable cardioverter-defibrillator insertion: do we really need it?

scientific article published on January 2010

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

scientific article

Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy.

scientific article published on 13 November 2011

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

scientific article (publication date: December 2003)

Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B

scientific article published on 22 August 2018

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

scientific article

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

scientific article published in January 2011

Nitric oxide deficiency determines global chromatin changes in Duchenne muscular dystrophy.

scientific article published on 5 March 2009

Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: Evidence from a safety study with pilot efficacy measures in adult dystrophic patients

scientific article published on 25 January 2012

Paediatric biobanks: opinions, feelings and attitudes of parents towards the specimen donation of their sick children to a hypothetical biobank.

scientific article published in January 2014

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

scientific article

Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients

scientific article published in May 2013

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

scientific article

Report of the 95th European Neuromuscular Centre (ENMC) sponsored international workshop cognitive impairment in neuromuscular disorders, Naarden, The Netherlands, 13-15 July 2001

scientific article published on 01 January 2003

Respiratory pattern in an adult population of dystrophic patients

scientific article published in July 2011

Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta

scientific article

Ribcage deformity and the altered breathing pattern in children with osteogenesis imperfecta

scientific article published on 15 May 2018

Sleep Disordered Breathing in Duchenne Muscular Dystrophy

scientific article published on May 2017

Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy.

scientific article published on 5 March 2012

Tensor-based morphometry using scalar and directional information of diffusion tensor MRI data (DTBM): Application to hereditary spastic paraplegia

scientific article published on 25 September 2018

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

scientific article published on 7 October 2014

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

scientific article published on 3 August 2010

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

scientific article

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

scientific article

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

scientific article published in January 2003

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.

scientific article published on 20 June 2018

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

scientific article

Variants in SNAP25 are targets of natural selection and influence verbal performances in women

scientific article

Ventricular arrhythmias in aortic valve stenosis before and after transcatheter aortic valve implantation

scientific article