about
Biologics, colchicine, corticosteroids, immunosuppressants and interferon-alpha for Neuro-Behçet's SyndromeZebrafish as a Model to Investigate Dynamin 2-Related Diseases.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.Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.Congenital myopathies: Natural history of a large pediatric cohort.Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortNovel findings associated with MTM1 suggest a higher number of female symptomatic carriers.A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophyMarked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.Treatment of myasthenia gravis: focus on pyridostigmine.The thymus in myasthenia gravis: Site of "innate autoimmunity"?Development of the MG-DIS: an ICF-based disability assessment instrument for myasthenia gravis.Inflammation and epstein-barr virus infection are common features of myasthenia gravis thymus: possible roles in pathogenesis.Muscle MRI in neutral lipid storage disease (NLSD).Percutaneous vertebroplasty in a series of myasthenic patients with steroid-induced symptomatic vertebral fractures.Increased expression of Toll-like receptors 7 and 9 in myasthenia gravis thymus characterized by active Epstein-Barr virus infection.ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathiesCentronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.LMNA-associated myopathies: the Italian experience in a large cohort of patients.Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.Complete stable remission and autoantibody specificity in myasthenia gravis.Epstein-Barr virus in tumor-infiltrating B cells of myasthenia gravis thymoma: an innocent bystander or an autoimmunity mediator?Epstein-Barr virus persistence and reactivation in myasthenia gravis thymus.Validity, reliability, and sensitivity to change of the myasthenia gravis activities of daily living profile in a sample of Italian myasthenic patients.Toll-like receptors 7 and 9 in myasthenia gravis thymus: amplifiers of autoimmunity?Validation of the italian version of the 15-item Myasthenia Gravis Quality-of-Life questionnaire.Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).MRI in sarcoglycanopathies: a large international cohort study.Validation of the Besta Neurological Institute rating scale for myasthenia gravis.New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene.The relationship between health, disability and quality of life in myasthenia gravis: results from an Italian study.Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.Validation of the MG-DIS: a disability assessment for myasthenia gravis.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Lorenzo Maggi
@ast
Lorenzo Maggi
@en
Lorenzo Maggi
@es
Lorenzo Maggi
@nl
Lorenzo Maggi
@sl
type
label
Lorenzo Maggi
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Lorenzo Maggi
@en
Lorenzo Maggi
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Lorenzo Maggi
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Lorenzo Maggi
@sl
prefLabel
Lorenzo Maggi
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Lorenzo Maggi
@en
Lorenzo Maggi
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Lorenzo Maggi
@nl
Lorenzo Maggi
@sl
P1053
K-3578-2018
P106
P1153
57192340873
P21
P2798
P31
P496
0000-0002-0932-5173