Search filters

List of works by Lorenzo Maggi

A New Thiopurine S-Methyltransferase Haplotype Associated With Intolerance to Azathioprine

scientific article published on 24 January 2013

A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis.

scientific article published on 2 December 2016

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

scientific article published on 28 April 2016

Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients.

scientific article published on 8 December 2015

Biologics, colchicine, corticosteroids, immunosuppressants and interferon-alpha for Neuro-Behçet's Syndrome

scientific article (publication date: 18 December 2014)

C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

article

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

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

scientific article published on 12 June 2015

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

scientific article

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

scientific article published on 9 October 2017

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

scientific article published on 25 July 2015

Complete stable remission and autoantibody specificity in myasthenia gravis

scientific article

Concordance between severity of disease, disability and health-related quality of life in Myasthenia gravis

article

Congenital myopathies: Natural history of a large pediatric cohort

scientific article

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

scientific article published on 23 June 2020

Detection of poliovirus-infected macrophages in thymus of patients with myasthenia gravis.

scientific article

Development of the MG-DIS: an ICF-based disability assessment instrument for myasthenia gravis

scientific article published on 19 June 2013

Disability and functional profiles of patients with myasthenia gravis measured with ICF classification

scientific article published in June 2009

Effect of IgG immunoadsorption on serum cytokines in MG and LEMS patients

scientific article published on 21 July 2008

Emerging perspectives on laminopathies

Epstein-Barr virus in tumor-infiltrating B cells of myasthenia gravis thymoma: an innocent bystander or an autoimmunity mediator?

scientific article published on 8 September 2017

Epstein-Barr virus persistence and reactivation in myasthenia gravis thymus

scientific article published in June 2010

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

scientific article published on 12 June 2017

Erythropoietin in amyotrophic lateral sclerosis: a pilot, randomized, double-blind, placebo-controlled study of safety and tolerability

scientific article

ICF in neurology: functioning and disability in patients with migraine, myasthenia gravis and Parkinson's disease

scientific article published in January 2009

Identification of international classification of functioning, disability and health relevant categories to describe functioning and disability of patients with myasthenia gravis

scientific article published in January 2009

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

scientific article published on 16 February 2010

Increased expression of Toll-like receptors 7 and 9 in myasthenia gravis thymus characterized by active Epstein-Barr virus infection.

scientific article published on 12 December 2015

Inflammation and epstein-barr virus infection are common features of myasthenia gravis thymus: possible roles in pathogenesis.

scientific article published on 26 September 2011

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

scientific article published on 10 April 2020

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

scientific article published on 15 December 2018

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

scientific article published on October 2014

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

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

scientific article

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

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

scientific article published on 07 July 2016

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

scientific article published on 12 October 2013

Monomelic amyotrophy in cervical myelopathy associated with anterior dural sac displacement induced by neck flexion

scientific article published on 05 March 2016

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

scientific article published on 20 June 2016

Muscle MRI findings in facioscapulohumeral muscular dystrophy

scientific article published on 27 June 2015

Muscle MRI in neutral lipid storage disease (NLSD).

scientific article published on 13 May 2017

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

scientific article

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

scientific article

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

scientific article published on 17 February 2016

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

scientific article published on 11 September 2020

Percutaneous vertebroplasty in a series of myasthenic patients with steroid-induced symptomatic vertebral fractures.

scientific article published on 30 March 2013

Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy

scientific article published on 23 January 2020

Reply to the letter by Finsterer et al. concerning the paper: "Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome" by Galassi G. et al

scientific article published on 28 August 2017

Salbutamol as effective treatment in slow-channel syndrome- first report

scientific article published on 28 October 2020

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The relationship between health, disability and quality of life in myasthenia gravis: results from an Italian study

scientific article

The thymus in myasthenia gravis: Site of "innate autoimmunity"?

scientific article published on October 2011

Thymoma-associated myasthenia gravis: Outcome, clinical and pathological correlations in 197 patients on a 20-year experience

scientific article published on 22 August 2008

Toll-like receptors 7 and 9 in myasthenia gravis thymus: amplifiers of autoimmunity?

scientific article published on 24 January 2018

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

scientific article published on 31 August 2017

Treatment of myasthenia gravis: focus on pyridostigmine.

scientific article published on October 2011

Validation of the Besta Neurological Institute rating scale for myasthenia gravis

scientific article published on 15 September 2015

Validation of the MG-DIS: a disability assessment for myasthenia gravis

scientific article published in March 2016

Validation of the italian version of the 15-item Myasthenia Gravis Quality-of-Life questionnaire

scientific article

Validity, reliability, and sensitivity to change of the myasthenia gravis activities of daily living profile in a sample of Italian myasthenic patients

scientific article published on 5 August 2017

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

scientific article

Paulina is supported by:

About Paulina

Help