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List of works by Angela Berardinelli

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

scientific article

1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015.

scientific article published on 18 September 2015

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

scientific article published on 8 January 2014

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

scientific article published on 01 September 2000

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

scientific article published on 28 April 2016

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

scientific article published on 11 February 2019

Amyotrophic lateral sclerosis and skeletal muscle: an update.

scientific article

An integrated approach in a case of facioscapulohumeral dystrophy

scientific article

Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?

scientific article published on 16 October 2015

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

scientific article published on 5 May 2012

Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.

scientific article published on 28 May 2017

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

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

scientific article published on 8 February 2013

Cerebellum enlargement and corpus callosum agenesis: a longitudinal case report.

scientific article published in June 2011

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

scientific article

Clinical and neurophysiological study in diabetic children and adolescents.

scientific article

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

scientific article

Congenital muscular dystrophies with cognitive impairment. A population study.

scientific article published in September 2010

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

scientific article (publication date: 26 May 2009)

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

scientific article published on 11 November 2013

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

scientific article published on 4 December 2015

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

scientific article published on 14 February 2017

Dolicho-Vertebrobasilar Abnormality and Migraine-Like Attacks

scientific article published on 01 January 1999

Dystrophinopathies: peculiar clinical and laboratory aspects.

scientific article published in January 2001

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

Effects of different ventilator settings on sleep and inspiratory effort in patients with neuromuscular disease.

scientific article published on 16 June 2005

Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome?

scientific article published on 01 June 1995

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article published on 12 September 2017

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care

scientific article published on 18 August 2018

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

scientific article published on 6 July 2011

Growth hormone deficiency in a patient with becker muscular dystrophy: a pediatric case report.

scientific article published on 14 January 2013

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

scientific article

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

scientific article published on 01 April 1999

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 2015

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

scientific article

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs

scientific article published on June 2017

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

scientific article published on 01 September 2004

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

scientific article

Long-term growth hormone therapy in mitochondrial cytopathy.

scientific article published on 25 August 2004

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

scientific article

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

Measurement of skeletal muscle mass in Duchenne muscular dystrophy: use of 24-h creatinine excretion ⬇️

scientific article published on October 1, 2003

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

scientific article published on 01 February 2010

Muscle ultrasound elastography and MRI in preschool children with Duchenne muscular dystrophy

scientific article published on 13 April 2018

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

scientific article published in January 2011

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

scientific article

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

scientific article published on 14 July 2010

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

scientific article published on 2 June 2008

POMT2 mutation in a patient with 'MEB-like' phenotype.

scientific article published on 15 May 2006

Pelizaeus-Merzbacher disease: electrophysiological study of two sibs with the classic form and of their relatives.

scientific article published in October 2001

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

scientific article published on 21 March 2007

Prospective study of gross motor development in children with SMA type II

scientific article published on 01 May 1995

Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study

scientific article

Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy

scientific article published on 08 May 2002

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

scientific article

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

article

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

scientific article published on 23 June 2009

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

scientific article

Response to carbamazepine of recessive-type myotonia congenita

scientific article published on 01 January 2000

Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status

scientific article published on 01 February 1995

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

scientific article published on 3 April 2015

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

scientific article published on 7 October 2014

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

scientific article published on 12 April 2007

The efficacy of noninvasive mechanical ventilation on nocturnal hypoxaemia in Duchenne's muscular dystrophy

scientific article published on February 1, 1998

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

scientific article

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article

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

scientific article published on 20 June 2018

Vaccination recommendations for patients with neuromuscular disease.

scientific article published on 16 September 2014

Value of structured reporting in neuromuscular disorders

scientific article published on 09 March 2019

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