List of works by Luca Bello

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

scientific article

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

scientific article (publication date: 2013)

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

scientific article published on 8 January 2014

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

scientific article

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

scientific article published on 09 January 2019

Assessment of patients with idiopathic inflammatory myopathies and isolated creatin-kinase elevation.

scientific article

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

scientific article published on 12 October 2016

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

scientific article published on 16 August 2016

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

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

scientific article

Changes in Muscle Metabolism are Associated with Phenotypic Variability in Golden Retriever Muscular Dystrophy.

scientific article

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

scientific article published on 10 April 2015

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

scientific article published on 26 September 2011

Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I.

scientific article published on 4 February 2011

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

scientific article published on 8 December 2017

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study

scientific article published on 24 June 2016

Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease

scientific article published on 6 March 2017

Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients

scientific article

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

scientific article published on 31 January 2017

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

scientific article published on September 2016

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

scientific article published on 6 July 2011

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

scientific article published on 29 October 2015

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy

scientific article

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study

scientific article

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

scientific article published on 28 April 2020

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

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

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

scientific article published on 25 June 2019

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

Muscle MR imaging in tubular aggregate myopathy

scientific article

Muscle MRI and functional outcome measures in Becker muscular dystrophy

scientific article published on 22 November 2017

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

scholarly article by Jordi Diaz-Manera et al published October 2018 in Journal of Neurology, Neurosurgery and Psychiatry

No effect ofARpolyG polymorphism on spinal and bulbar muscular atrophy phenotype

scientific article published on 01 June 2016

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

scientific article published on 26 October 2015

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

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

scientific article published on 11 September 2020

OPN-a induces muscle inflammation by increasing recruitment and activation of pro-inflammatory macrophages.

scientific article published on 25 July 2016

Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.

scientific article published on 26 July 2017

Parkinson-like features in ALS with predominant upper motor neuron involvement

scientific article published on 28 August 2011

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

scientific article published on 3 May 2013

Predicting age at loss of ambulation in Duchenne muscular dystrophy with deep phenotypic measures

Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

scientific article

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

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

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

scientific article

SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells.

scientific article published on 8 June 2017

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

scientific article

Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy

scientific article published on 06 June 2019

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

scientific article published on 02 January 2020

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

scientific article published on 26 August 2015

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

Teaching an Old Molecule New Tricks: Drug Repositioning for Duchenne Muscular Dystrophy

scientific article published on 30 November 2019

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

scientific article

The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy.

scientific article published on 10 May 2019

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

scientific article published on 7 October 2014

The clinical spectrum of -related myopathy

scientific article published on 26 September 2018

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

scientific article

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

scientific article published on 20 June 2018

VBP15, a novel anti-inflammatory, is effective at reducing the severity of murine experimental autoimmune encephalomyelitis.

scientific article published on 13 November 2014

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

scientific article published on 21 July 2016

Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.

scientific article published on 27 December 2016

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III

scientific article published on 24 April 2019

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