Lista de obras - Angela Berardinelli - Dominio Público Uruguay

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

artículo científico publicado en 2013

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.

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Amyotrophic lateral sclerosis and skeletal muscle: an update.

artículo científico publicado en 2013

An integrated approach in a case of facioscapulohumeral dystrophy

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Clinical and neurophysiological study in diabetic children and adolescents.

artículo científico publicado en 1994

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

artículo científico publicado en 2016

Congenital muscular dystrophies with cognitive impairment. A population study.

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Dolicho-Vertebrobasilar Abnormality and Migraine-Like Attacks

scientific article published on 01 January 1999

Dystrophinopathies: peculiar clinical and laboratory aspects.

artículo científico publicado en 2001

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

artículo científico publicado en 2015

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 1995

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

artículo científico publicado en 1999

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Long-term growth hormone therapy in mitochondrial cytopathy.

artículo científico publicado en 2004

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

artículo científico publicado en 2012

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

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

artículo científico publicado el 1 de octubre de 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2001

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

artículo científico publicado en 2007

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

artículo científico publicado en 1995

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2007

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Response to carbamazepine of recessive-type myotonia congenita

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado el 1 de febrero de 1998

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Vaccination recommendations for patients with neuromuscular disease.

artículo científico publicado en 2014

Value of structured reporting in neuromuscular disorders

artículo científico publicado en 2019

Lista de obras de Angela Berardinelli

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

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.

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

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

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

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

Amyotrophic lateral sclerosis and skeletal muscle: an update.

An integrated approach in a case of facioscapulohumeral dystrophy

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

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

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

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

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

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

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

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

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

Clinical and neurophysiological study in diabetic children and adolescents.

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

Congenital muscular dystrophies with cognitive impairment. A population study.

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

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

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

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

Dolicho-Vertebrobasilar Abnormality and Migraine-Like Attacks

Dystrophinopathies: peculiar clinical and laboratory aspects.

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

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

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

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

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

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

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

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

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

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

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

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

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

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

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

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

Long-term growth hormone therapy in mitochondrial cytopathy.

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

MRI in sarcoglycanopathies: a large international cohort study.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Response to carbamazepine of recessive-type myotonia congenita

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

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

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

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

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

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

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

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

Vaccination recommendations for patients with neuromuscular disease.

Value of structured reporting in neuromuscular disorders