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List of works by Lorenzo Maggi

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

scientific article published on 08 June 2016
Congenital myopathies: Natural history of a large pediatric cohort

scientific article
Epstein-Barr virus persistence and reactivation in myasthenia gravis thymus

scientific article published in June 2010
The relationship between health, disability and quality of life in myasthenia gravis: results from an Italian study

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

scientific article published on October 2014
Erythropoietin in amyotrophic lateral sclerosis: a pilot, randomized, double-blind, placebo-controlled study of safety and tolerability

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

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

scientific article published on 25 July 2015
Treatment of myasthenia gravis: focus on pyridostigmine.

scientific article published on October 2011
Complete stable remission and autoantibody specificity in myasthenia gravis

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

scientific article published on 07 July 2016
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
Thymoma-associated myasthenia gravis: Outcome, clinical and pathological correlations in 197 patients on a 20-year experience

scientific article published on 22 August 2008
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015
Concordance between severity of disease, disability and health-related quality of life in Myasthenia gravis

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

scientific article published on October 2011
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

scientific article published on 12 October 2013
ICF in neurology: functioning and disability in patients with migraine, myasthenia gravis and Parkinson's disease

scientific article published in January 2009
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

scientific article published on 12 June 2015
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
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

scientific article published on 28 April 2016
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
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

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

scientific article published on 8 December 2015
Muscle MRI findings in facioscapulohumeral muscular dystrophy

scientific article published on 27 June 2015
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

scientific article published on 17 February 2016
Biologics, colchicine, corticosteroids, immunosuppressants and interferon-alpha for Neuro-Behçet's Syndrome

scientific article (publication date: 18 December 2014)
Validation of the Besta Neurological Institute rating scale for myasthenia gravis

scientific article published on 15 September 2015
MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017
Disability and functional profiles of patients with myasthenia gravis measured with ICF classification

scientific article published in June 2009
Inflammation and epstein-barr virus infection are common features of myasthenia gravis thymus: possible roles in pathogenesis.

scientific article published on 26 September 2011
A New Thiopurine S-Methyltransferase Haplotype Associated With Intolerance to Azathioprine

scientific article published on 24 January 2013
Effect of IgG immunoadsorption on serum cytokines in MG and LEMS patients

scientific article published on 21 July 2008
Toll-like receptors 7 and 9 in myasthenia gravis thymus: amplifiers of autoimmunity?

scientific article published on 24 January 2018
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
Development of the MG-DIS: an ICF-based disability assessment instrument for myasthenia gravis

scientific article published on 19 June 2013
Validation of the MG-DIS: a disability assessment for myasthenia gravis

scientific article published in March 2016
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

scientific article
Muscle MRI in neutral lipid storage disease (NLSD).

scientific article published on 13 May 2017
New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

scientific article
C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

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

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

scientific article published on 30 March 2013
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

scientific article published on 9 October 2017
Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy

scientific article published on 23 January 2020
Italian recommendations for diagnosis and management of congenital myasthenic syndromes

scientific article published on 15 December 2018

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